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<meta name="citation_keywords" content="Ovarian Neoplasms">
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<meta name="citation_keywords" content="Genetic Predisposition to Disease">
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id="_NBK604391_"><span itemprop="name">Populations with high prevalence</span></h1><div class="subtitle">Ovarian cancer: identifying and managing familial and genetic risk</div><p><b>Evidence review H</b></p><p><i>NICE Guideline, No. 241</i></p><div class="half_rhythm">London: <a href="http://www.nap.edu/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=publisher"><span itemprop="publisher">National Institute for Health and Care Excellence (NICE)</span></a>; <span itemprop="datePublished">2024 Mar</span>.<div class="small">ISBN-13: <span itemprop="isbn">978-1-4731-5828-3</span></div></div><div><a href="/books/about/copyright/">Copyright</a> © NICE 2024.</div></div><div class="bkr_clear"></div></div><div id="niceng241er8.s1"><h2 id="_niceng241er8_s1_">Populations with high prevalence</h2><div id="niceng241er8.s1.1"><h3>Review question</h3><p>Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</p><div id="niceng241er8.s1.1.1"><h4>Introduction</h4><p>The number of people who have a pathogenic variant that puts them at an increased risk of familial ovarian cancer is not the same across populations. For example, Ashkenazim have a higher incidence of pathogenic variants in <i>BRCA1</i> and <i>BRCA2</i> genes. As we discover more pathogenic variants that are associated with ovarian cancer, we may also identify new populations in which these variants are common. If the pathogenic variant is common enough within a population, those within the population may be at sufficient risk to be offered genetic testing.</p><p>The review investigates which populations are associated with pathogenic variants. Furthermore, the review describes the level of risk seen within these populations and investigates if that risk meets the threshold for genetic testing.</p></div><div id="niceng241er8.s1.1.2"><h4>Summary of the protocol</h4><p>See <a href="/books/NBK604391/table/niceng241er8.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er8tab1">Table 1</a> for a summary of the Population, Intervention, Comparison and Outcome (PICO) characteristics of this review.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er8tab1"><a href="/books/NBK604391/table/niceng241er8.tab1/?report=objectonly" target="object" title="Table 1" class="img_link icnblk_img" rid-ob="figobniceng241er8tab1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er8.tab1"><a href="/books/NBK604391/table/niceng241er8.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er8tab1">Table 1</a></h4><p class="float-caption no_bottom_margin">Summary of the protocol (PICO table). </p></div></div><p>For further details see the review protocol in <a href="#niceng241er8.appa">appendix A</a>.</p></div><div id="niceng241er8.s1.1.3"><h4>Methods and process</h4><p>This evidence review was developed using the methods and process described in <a href="https://www.nice.org.uk/process/pmg20/chapter/introduction-and-overview" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Developing NICE guidelines: the manual</a>. Methods specific to this review question are described in the review protocol in <a href="#niceng241er8.appa">appendix A</a> and the <a href="/books/NBK604391/bin/NG241-Supplement1-Methods.pdf">methods</a> document (supplementary document 1). Further to these, the committee wanted to see more evidence in other populations such as Polish and Icelandic people which was sparsely available or not available from the included cross-sectional studies, therefore they suggested to include data from case-control studies reporting prevalence of pathogenic variants in relevant populations. Some additional data in the populations of interest was identified and data from the control group (where sample reflected a general population) was reported (matched case-controls were not considered).</p><p>Declarations of interest were recorded according to <a href="https://www.nice.org.uk/about/who-we-are/policies-and-procedures" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NICE’s conflicts of interest policy</a>.</p></div><div id="niceng241er8.s1.1.4"><h4>Effectiveness evidence</h4><div id="niceng241er8.s1.1.4.1"><h5>Included studies</h5><p>Overall 29 studies were included in this review. These are divided into populations with increased risk of high prevalence of pathogenic variants for familial ovarian cancer.</p><p>Twenty studies were cross-sectional (<a class="bibr" href="#niceng241er8.ref1" rid="niceng241er8.ref1">Abul-Husn 2019</a>, <a class="bibr" href="#niceng241er8.ref3" rid="niceng241er8.ref3">Anisimenko 2013</a>, <a class="bibr" href="#niceng241er8.ref4" rid="niceng241er8.ref4">Bar-Sade 1997</a>, <a class="bibr" href="#niceng241er8.ref5" rid="niceng241er8.ref5">Bar-Sade 1998</a>, <a class="bibr" href="#niceng241er8.ref6" rid="niceng241er8.ref6">Castillo 2022</a>, <a class="bibr" href="#niceng241er8.ref8" rid="niceng241er8.ref8">Gabai-Kapara 2014</a>, <a class="bibr" href="#niceng241er8.ref9" rid="niceng241er8.ref9">Harboe 2009</a>, <a class="bibr" href="#niceng241er8.ref10" rid="niceng241er8.ref10">Hartge 1999</a>, <a class="bibr" href="#niceng241er8.ref12" rid="niceng241er8.ref12">Kerr 2023</a>, <a class="bibr" href="#niceng241er8.ref14" rid="niceng241er8.ref14">Lieberman 2017</a>, Metcalfe 2020, <a class="bibr" href="#niceng241er8.ref18" rid="niceng241er8.ref18">Pavlovica 2022</a>, <a class="bibr" href="#niceng241er8.ref20" rid="niceng241er8.ref20">Quintana-Murci 2005</a>, <a class="bibr" href="#niceng241er8.ref21" rid="niceng241er8.ref21">Roa 1996</a>, <a class="bibr" href="#niceng241er8.ref22" rid="niceng241er8.ref22">Shiri-Sverdlov 2001</a>, <a class="bibr" href="#niceng241er8.ref23" rid="niceng241er8.ref23">Struewing 1995</a>, <a class="bibr" href="#niceng241er8.ref25" rid="niceng241er8.ref25">Thorlacius 1997</a>, <a class="bibr" href="#niceng241er8.ref26" rid="niceng241er8.ref26">Tiller 2022</a>, <a class="bibr" href="#niceng241er8.ref27" rid="niceng241er8.ref27">Trottier 2016</a>, <a class="bibr" href="#niceng241er8.ref29" rid="niceng241er8.ref29">Zhang 2022</a>), 8 case-control (control arm data used) (<a class="bibr" href="#niceng241er8.ref2" rid="niceng241er8.ref2">Ahearn 2022</a>, <a class="bibr" href="#niceng241er8.ref7" rid="niceng241er8.ref7">Cybulski 2019</a>, <a class="bibr" href="#niceng241er8.ref11" rid="niceng241er8.ref11">Johannesdottir 1996</a>, <a class="bibr" href="#niceng241er8.ref13" rid="niceng241er8.ref13">Lener 2016</a>, <a class="bibr" href="#niceng241er8.ref17" rid="niceng241er8.ref17">Noskowicz 2014</a>, <a class="bibr" href="#niceng241er8.ref19" rid="niceng241er8.ref19">Pelttari 2012</a>, <a class="bibr" href="#niceng241er8.ref24" rid="niceng241er8.ref24">Teodorczyk 2013</a>, <a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>) and 1 randomized controlled trial (<a class="bibr" href="#niceng241er8.ref15" rid="niceng241er8.ref15">Manchanda 2020</a>). As there was only a sparce or absent evidence on such populations like Polish and Icelandic people from the included crosssectional studies, data from case-control studies reporting prevalence of pathogenic variants in these populations were included (where sample reflected a general population, matched case-controls were not considered).</p><p>The included studies are summarised in <a href="/books/NBK604391/table/niceng241er8.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er8tab2">Table 2</a>.</p><p>The included studies typically reported the prevalence of <i>BRCA1/2</i> pathogenic variants, 5 studies reported the prevalence of <i>CHEK2</i> (<a class="bibr" href="#niceng241er8.ref7" rid="niceng241er8.ref7">Cybulski 2019</a>, <a class="bibr" href="#niceng241er8.ref13" rid="niceng241er8.ref13">Lener 2016</a>, <a class="bibr" href="#niceng241er8.ref18" rid="niceng241er8.ref18">Pavlovica 2022</a>, <a class="bibr" href="#niceng241er8.ref24" rid="niceng241er8.ref24">Teodorczyk 2013</a>, <a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>), 3 studies reported the prevalence of <i>PALB2</i> (<a class="bibr" href="#niceng241er8.ref7" rid="niceng241er8.ref7">Cybulski 2019</a>, <a class="bibr" href="#niceng241er8.ref13" rid="niceng241er8.ref13">Lener 2016</a>, <a class="bibr" href="#niceng241er8.ref17" rid="niceng241er8.ref17">Noskowicz 2014</a>), 2 studies reported the prevalence of <i>MSH2/6</i> (<a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>, <a class="bibr" href="#niceng241er8.ref29" rid="niceng241er8.ref29">Zhang 2022</a>), 1 study reported the prevalence of <i>RAD51D</i> (<a class="bibr" href="#niceng241er8.ref19" rid="niceng241er8.ref19">Pelttari 2012</a>), one study reported the prevalence of <i>ATM</i> (<a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>) and 1 study reported the prevalence of <i>MLH1 and PMS2</i> (<a class="bibr" href="#niceng241er8.ref29" rid="niceng241er8.ref29">Zhang 2022</a>) pathogenic variants.</p><p>Most studies were conducted in Israel, the US and Poland, and most included various Jewish populations: Ashkenazi Jews (<a class="bibr" href="#niceng241er8.ref1" rid="niceng241er8.ref1">Abul-Husn 2019</a>, <a class="bibr" href="#niceng241er8.ref6" rid="niceng241er8.ref6">Castillo 2022</a>, <a class="bibr" href="#niceng241er8.ref8" rid="niceng241er8.ref8">Gabai-Kapara 2014</a>, <a class="bibr" href="#niceng241er8.ref10" rid="niceng241er8.ref10">Hartge 1999</a>, <a class="bibr" href="#niceng241er8.ref14" rid="niceng241er8.ref14">Lieberman 2017</a>, <a class="bibr" href="#niceng241er8.ref15" rid="niceng241er8.ref15">Manchanda 2020</a>, Metcalfe 2020, <a class="bibr" href="#niceng241er8.ref21" rid="niceng241er8.ref21">Roa 1996</a>, <a class="bibr" href="#niceng241er8.ref23" rid="niceng241er8.ref23">Struewing 1995</a>, <a class="bibr" href="#niceng241er8.ref26" rid="niceng241er8.ref26">Tiller 2022</a>), Iraqi Jews (<a class="bibr" href="#niceng241er8.ref4" rid="niceng241er8.ref4">Bar-Sade 1997</a>, <a class="bibr" href="#niceng241er8.ref22" rid="niceng241er8.ref22">Shiri-Sverdlov 2001</a>) and non-Ashkenazi Israeli Jews (<a class="bibr" href="#niceng241er8.ref5" rid="niceng241er8.ref5">Bar-Sade 1998</a>). Other studies reported the prevalence of <i>BRCA1/2</i> pathogenic variants in African Americans (<a class="bibr" href="#niceng241er8.ref1" rid="niceng241er8.ref1">Abul-Husn 2019</a>), Polish people (<a class="bibr" href="#niceng241er8.ref7" rid="niceng241er8.ref7">Cybulski 2019</a>, <a class="bibr" href="#niceng241er8.ref13" rid="niceng241er8.ref13">Lener 2016</a>, <a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>), Russians (<a class="bibr" href="#niceng241er8.ref3" rid="niceng241er8.ref3">Anisimenko 2013</a>), Greenlanders (<a class="bibr" href="#niceng241er8.ref9" rid="niceng241er8.ref9">Harboe 2009</a>), Icelanders (<a class="bibr" href="#niceng241er8.ref11" rid="niceng241er8.ref11">Johannesdottir 1996</a>, Thorlacius 1007), Orcadians (<a class="bibr" href="#niceng241er8.ref12" rid="niceng241er8.ref12">Kerr 2023</a>), Ghanaians (<a class="bibr" href="#niceng241er8.ref2" rid="niceng241er8.ref2">Ahearn 2022</a>) and Bahamians (<a class="bibr" href="#niceng241er8.ref27" rid="niceng241er8.ref27">Trottier 2016</a>).</p><p>See the literature search strategy in <a href="#niceng241er8.appb">appendix B</a> and study selection flow chart in <a href="#niceng241er8.appc">appendix C</a>.</p></div><div id="niceng241er8.s1.1.4.2"><h5>Excluded studies</h5><p>Studies not included in this review are listed, and reasons for their exclusion are provided in <a href="#niceng241er8.appj">appendix J</a>.</p></div></div><div id="niceng241er8.s1.1.5"><h4>Summary of included studies</h4><p>Summaries of the studies that were included in this review are presented in <a href="/books/NBK604391/table/niceng241er8.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er8tab2">Table 2</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er8tab2"><a href="/books/NBK604391/table/niceng241er8.tab2/?report=objectonly" target="object" title="Table 2" class="img_link icnblk_img" rid-ob="figobniceng241er8tab2"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er8.tab2"><a href="/books/NBK604391/table/niceng241er8.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er8tab2">Table 2</a></h4><p class="float-caption no_bottom_margin">Summary of included studies. </p></div></div><p>See the full evidence tables in <a href="#niceng241er8.appd">appendix D</a> and forest plots in <a href="#niceng241er8.appe">Appendix E</a>.</p></div><div id="niceng241er8.s1.1.6"><h4>Summary of the evidence</h4><div id="niceng241er8.s1.1.6.1"><h5>Prevalence of <i>ATM</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.1.1"><h5>Polish population</h5><p>There was moderate quality evidence that the <i>ATM</i> prevalence in Polish people in Poland was 0% (0% to 1.30%).</p></div><div id="niceng241er8.s1.1.6.1.2"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>ATM</i> prevalence in Ghanaians from Ghana was 0.32% (0.14% to 0.75%).</p></div></div><div id="niceng241er8.s1.1.6.2"><h5>Prevalence <i>of BRAC1</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.2.1"><h5>Ashkenazi Jewish population</h5><p>Most of the evidence was in Ashkenazi Jewish people. There was moderate quality evidence that the overall <i>BRCA1</i> prevalence in Ashkenazi Jewish people was 1.15% (0.93% to 1.40%).</p></div><div id="niceng241er8.s1.1.6.2.2"><h5>Ashkenazi/Sephardic Jewish population</h5><p>There was high quality evidence that the <i>BRCA1</i> prevalence in Ashkenazi/Sephardic Jewish people in Canada was 0.48% (0.23% to 0.88%).</p></div><div id="niceng241er8.s1.1.6.2.3"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>BRCA1</i> prevalence in Ghanaians from Ghana was 0.19% (0.04% to 0.56%).</p></div><div id="niceng241er8.s1.1.6.2.4"><h5>Greenlandic women and Greenlandic people of Inuit family background</h5><p>There was moderate quality evidence that the <i>BRCA1</i> prevalence in pregnant women in Greenland was 1.61% (1.08% to 2.31%) and people from Greenland of Inuit family background was 9.71% (8.00% to 11.64%).</p></div><div id="niceng241er8.s1.1.6.2.5"><h5>Iranian non-Jewish population</h5><p>There was moderate quality evidence that the <i>BRCA1</i> prevalence in Iranian non-Jewish people in Israel was 0% (0% to 0.83%).</p></div><div id="niceng241er8.s1.1.6.2.6"><h5>Iraqi Jewish population</h5><p>There was moderate quality evidence that the <i>BRCA1</i> prevalence in Iraqi Jewish people in Israel was 0.70% (0.31% to 1.54%).</p></div><div id="niceng241er8.s1.1.6.2.7"><h5>Non-Ashkenazi Jewish population</h5><p>There was very low to low quality evidence that the <i>BRCA1</i> prevalence in non-Ashkenazi Jewish people of Iranian origin in Israel was 0% (0% to 2.43%), Moroccan origin was 1.13% (0.31% to 2.87%) and Yemenite origin was 0% (0% to 1.83%).</p></div><div id="niceng241er8.s1.1.6.2.8"><h5>Orcadians</h5><p>There was high quality evidence that the <i>BRCA1</i> prevalence in Orcadians from the Northern Isles of Scotland was 0.96% (0.59% to 1.48%).</p></div><div id="niceng241er8.s1.1.6.2.9"><h5>Polish population</h5><p>There was moderate quality evidence that the overall <i>BRCA1</i> prevalence in Polish people in Poland was 0.45% (0.33% to 0.62%).</p></div><div id="niceng241er8.s1.1.6.2.10"><h5>Russian population</h5><p>There was moderate quality evidence that the <i>BRCA1</i> prevalence in Russians in Russia was 0.30% (0.19% to 0.45%).</p></div></div><div id="niceng241er8.s1.1.6.3"><h5>Prevalence <i>of BRAC2</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.3.1"><h5>Ashkenazi Jewish population</h5><p>There was low quality evidence that the overall <i>BRCA2</i> prevalence in Ashkenazi Jewish people in Israel and the US was 1.42% (0.49% to 4.07%).</p></div><div id="niceng241er8.s1.1.6.3.2"><h5>Ashkenazi/Sephardic Jewish population</h5><p>There was high quality evidence that the <i>BRCA2</i> prevalence in Ashkenazi/Sephardic Jewish people in Canada was 0.58% (0.30% to 1.01%).</p></div><div id="niceng241er8.s1.1.6.3.3"><h5>Ghana population</h5><p>There was moderate quality evidence that the <i>BRCA2</i> prevalence in Ghanaians from Ghana was 0.51% (0.22% to 1.01%).</p></div><div id="niceng241er8.s1.1.6.3.4"><h5>Icelandic population</h5><p>There was moderate quality evidence that the overall <i>BRCA2</i> prevalence in Icelanders in Iceland was 0.50% (0.05% to 4.67%).</p></div><div id="niceng241er8.s1.1.6.3.5"><h5>Polish population</h5><p>There was moderate quality evidence that the <i>BRCA2</i> prevalence in Polish people in Poland was 0% (0% to 1.19%).</p></div></div><div id="niceng241er8.s1.1.6.4"><h5>Prevalence <i>of BRAC1/2</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.4.1"><h5>African American or African population</h5><p>There was high quality evidence that the <i>BRCA1/2</i> prevalence in African Americans or Africans in the US was 0.45% (0.31% to 0.64%).</p></div><div id="niceng241er8.s1.1.6.4.2"><h5>Ashkenazi Jewish population</h5><p>There was high quality evidence that the overall <i>BRCA1/2</i> prevalence in Ashkenazi Jewish people in Israel, the UK and the US was 2.19% (1.99% to 2.40%).</p></div><div id="niceng241er8.s1.1.6.4.3"><h5>Ashkenazi/Sephardic Jewish population</h5><p>There was high quality evidence that the <i>BRCA1/2</i> prevalence in Ashkenazi/Sephardic Jewish people in Canada and Australia was 1.18% (0.90% to 1.56%).</p></div><div id="niceng241er8.s1.1.6.4.4"><h5>Bahamian population</h5><p>There was high quality evidence that the <i>BRCA1/2</i> prevalence in Bahamians in the Bahamas was 0.09% (0% to 0.51%).</p></div></div><div id="niceng241er8.s1.1.6.5"><h5>Prevalence of <i>BRIP1</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.5.1"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>BRIP1</i> prevalence in Ghanaians from Ghana was 0.13% (0.14% to 0.47%).</p></div></div><div id="niceng241er8.s1.1.6.6"><h5>Prevalence of <i>CHEK2</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.6.1"><h5>Estonian population</h5><p>There was moderate quality evidence that the <i>CHEK2</i> prevalence in Estonians in Estonia was 9.32% (8.51% to 10.18%).</p></div><div id="niceng241er8.s1.1.6.6.2"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>CHEK2</i> prevalence in Ghanaians from Ghana was 0.06% (0% to 0.36%).</p></div><div id="niceng241er8.s1.1.6.6.3"><h5>Polish population</h5><p>There was very low quality evidence that the overall <i>CHEK2</i> prevalence in Polish people in Poland was 3.37% (0.77% to 13.63%).</p></div></div><div id="niceng241er8.s1.1.6.7"><h5>Prevalence of <i>PALB2</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.7.1"><h5>Polish population</h5><p>There was moderate quality evidence that the overall <i>PALB2</i> prevalence in Polish people in Poland was 0.21% (0.13% to 0.33%).</p></div><div id="niceng241er8.s1.1.6.7.2"><h5>Belarusian population</h5><p>There was moderate quality evidence that the <i>PALB2</i> prevalence in Belarusians in Belarus was 0% (0% to 0.30%).</p></div><div id="niceng241er8.s1.1.6.7.3"><h5>German population</h5><p>There was moderate quality evidence that the <i>PALB2</i> prevalence in Germans in Germany was 0% (0% to 0.40%).</p></div><div id="niceng241er8.s1.1.6.7.4"><h5>Russian population</h5><p>There was moderate quality evidence that the <i>PALB2</i> prevalence in Russians in Russia was 0% (0% to 0.70%).</p></div><div id="niceng241er8.s1.1.6.7.5"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>PALB2</i> prevalence in Ghanaians from Ghana was 0.06% (0.01% to 0.35%).</p></div></div><div id="niceng241er8.s1.1.6.8"><h5>Prevalence of <i>MLH1, MSH2/6, PMS2</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.8.1"><h5>Chinese population</h5><p>There was moderate quality evidence that the <i>MLH1, MSH2/6, PMS2</i> prevalence in ethnic Chinese in mainland China, Macau and Singapore was 0.20% (0.19% to 0.20%).</p></div><div id="niceng241er8.s1.1.6.8.2"><h5>Polish population</h5><p>There was moderate quality evidence that the <i>MSH2</i> and <i>MSH6</i> prevalence in Polish people in Poland was 0% (0% to 1.30%).</p></div><div id="niceng241er8.s1.1.6.8.3"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>MLH1</i> prevalence in Ghanaians in Ghana was 0% (0% to 0.30%), <i>MSH2</i> prevalence was 0.06% (0.01% to 0.35%), <i>MSH6</i> prevalence was 0.19% (0.06% to 0.56%) and <i>PMS2</i> prevalence was 0% (0% to 0.002%).</p></div></div><div id="niceng241er8.s1.1.6.9"><h5>Prevalence of <i>RAD51C</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.9.1"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>RAD51C</i> prevalence in Ghanaians from Ghana was 0.06% (0.01% to 0.35%).</p></div></div><div id="niceng241er8.s1.1.6.10"><h5>Prevalence of <i>RAD51D</i> pathogenic variants</h5><div id="niceng241er8.s1.1.6.10.1"><h5>Finish population</h5><p>There was moderate quality evidence that the <i>RAD51D</i> prevalence in Finns in Finland was 0.05% (0% to 0.30%).</p></div><div id="niceng241er8.s1.1.6.10.2"><h5>Ghanaian population</h5><p>There was high quality evidence that the <i>RAD51D</i> prevalence in Ghanaians from Ghana was 0% (0% to 0.30%).</p><p>See <a href="#niceng241er8.appf">appendix F</a> for full GRADE tables.</p></div></div></div><div id="niceng241er8.s1.1.7"><h4>Economic evidence</h4><div id="niceng241er8.s1.1.7.1"><h5>Included studies</h5><p>Four economic studies were identified which were relevant to this review (<a class="bibr" href="#niceng241er8.ref30" rid="niceng241er8.ref30">Manchanda 2015</a>, <a class="bibr" href="#niceng241er8.ref31" rid="niceng241er8.ref31">Manchanda 2017</a>, <a class="bibr" href="#niceng241er8.ref32" rid="niceng241er8.ref32">Michaelson-Cohen 2022</a>, <a class="bibr" href="#niceng241er8.ref33" rid="niceng241er8.ref33">Patel 2018</a>).</p><p>A single economic search was undertaken for all topics included in the scope of this guideline. See <a href="/books/NBK604391/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">supplementary material 2</a> for details.</p></div><div id="niceng241er8.s1.1.7.2"><h5>Excluded studies</h5><p>Economic studies not included in this review are listed, and reasons for their exclusion are provided in <a href="#niceng241er8.appj">appendix J</a>.</p></div></div><div id="niceng241er8.s1.1.8"><h4>Summary of included economic evidence</h4><p>The systematic search of the economic literature undertaken for the guideline identified the following studies:
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<ul><li class="half_rhythm"><div>One UK cost-utility analysis on population <i>BRCA1/BRAC2</i> testing in Sephardi Jewish women (<a class="bibr" href="#niceng241er8.ref33" rid="niceng241er8.ref33">Patel 2018</a>);</div></li><li class="half_rhythm"><div>One UK cost-utility analysis on <i>BRCA1/BRCA2</i> testing in Ashkenazi Jewish women with one to four Ashkenazi Jewish grandparents (<a class="bibr" href="#niceng241er8.ref31" rid="niceng241er8.ref31">Manchanda 2017</a>);</div></li><li class="half_rhythm"><div>One UK cost-utility analysis on population <i>BRCA1/BRCA2</i> testing in Ashkenazi Jewish women (<a class="bibr" href="#niceng241er8.ref30" rid="niceng241er8.ref30">Manchanda 2015</a>);</div></li><li class="half_rhythm"><div>One Israeli cost-utility analysis on population <i>BRCA1/BRAC2</i> testing in Ashkenazi Jewish women (<a class="bibr" href="#niceng241er8.ref32" rid="niceng241er8.ref32">Michaelson-Cohen 2022</a>).</div></li></ul></p><p>See the economic evidence tables in <a href="#niceng241er8.apph">appendix H</a>. See <a href="/books/NBK604391/table/niceng241er8.tab3/?report=objectonly" target="object" rid-ob="figobniceng241er8tab3">Table 3</a> for the economic evidence profiles of the included studies.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er8tab3"><a href="/books/NBK604391/table/niceng241er8.tab3/?report=objectonly" target="object" title="Table 3" class="img_link icnblk_img" rid-ob="figobniceng241er8tab3"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er8.tab3"><a href="/books/NBK604391/table/niceng241er8.tab3/?report=objectonly" target="object" rid-ob="figobniceng241er8tab3">Table 3</a></h4><p class="float-caption no_bottom_margin">Economic evidence profiles for <i>BRCA1/BRAC2</i> genetic testing (versus clinical or family history-based genetic testing) for Jewish women unaffected by cancer: </p></div></div></div><div id="niceng241er8.s1.1.9"><h4>Economic model</h4><p>No economic modelling was undertaken for this review because the committee agreed that other topics were higher priorities for economic evaluation.</p></div><div id="niceng241er8.s1.1.10"><h4>Evidence statements</h4><div id="niceng241er8.s1.1.10.1"><h5>Economic</h5><ul><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er8.ref33" rid="niceng241er8.ref33">Patel 2018</a>) suggests that <i>BRCA</i> genetic testing is likely to be cost effective compared with clinical criteria/family history-based <i>BRCA</i> genetic testing in adult Sephardi Jewish women in the UK. The study is directly applicable to NICE’s decision making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er8.ref31" rid="niceng241er8.ref31">Manchanda 2017</a>) suggests that <i>BRCA</i> genetic testing is likely to be cost effective compared with clinical criteria/family history-based <i>BRCA</i> genetic testing in adult Ashkenazi Jewish women with varying degrees of Ashkenazi Jewish ancestry (ranging from four to one Ashkenazi Jewish grandparents) in the UK. The study is directly applicable to NICE’s decision making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er8.ref30" rid="niceng241er8.ref30">Manchanda 2015</a>) suggests that <i>BRCA</i> genetic testing is likely to be cost effective compared with clinical criteria/family history-based <i>BRCA</i> genetic testing in adult Ashkenazi Jewish women in the UK. The study is directly applicable to NICE’s decision making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er8.ref32" rid="niceng241er8.ref32">Michaelson-Cohen 2022</a>) suggests that <i>BRCA</i> genetic testing is unlikely to be cost effective compared with clinical criteria/family history-based <i>BRCA</i> genetic testing and cascade testing in adult Ashkenazi Jewish women in Israel. The study is partially applicable to NICE’s decision making context and has potentially serious limitations.</div></li></ul></div></div><div id="niceng241er8.s1.1.11"><h4>The committee’s discussion of the evidence</h4><div id="niceng241er8.s1.1.11.1"><h5>The outcomes that matter most</h5><p>The committee were interested in the prevalence of various pathogenic variants associated with familial ovarian cancer and choose them as critical outcomes.</p></div><div id="niceng241er8.s1.1.11.2"><h5>The quality of the evidence</h5><p>The quality of the evidence from the included studies was assessed with GRADE and ranged from very low to high, with most of the evidence being of a moderate quality. This was predominately due to serious overall risk of bias in some outcomes; imprecision around the effect estimate in a few outcomes and the presence of serious or very serious heterogeneity in a few outcomes, which was unresolved by subgroup analysis.</p><p>There was no evidence identified for the prevalence of pathogenic variants in <i>DICER1</i> and <i>SMARCA4</i> in specific populations.</p></div><div id="niceng241er8.s1.1.11.3"><h5>Benefits and harms</h5><div id="niceng241er8.s1.1.11.3.1"><h5>At-risk populations</h5><p>Based on the evidence, the committee decided to recommend genetic counselling and genetic testing for people from Ashkenazi Jewish and Greenlandic populations because these populations had the highest prevalence rates for <i>BRCA1</i> and <i>BRCA2</i> pathogenic variants. Of all the pathogenic variants in the protocol <i>BRCA1</i> and <i>BRCA2</i> also carry the highest risk associated with ovarian cancer. Greenlanders, even though a very small minority in the UK, have a high prevalence rate as well and the committee agreed to include them in the recommendation to make healthcare professionals aware of their increased risk. The clinical evidence was less clear about people with a Jewish Sephardi family background. The evidence usually combined them with the Ashkenazi group which makes it somewhat unclear which prevalence applied to them as an individual group, but the rates were generally lower. Even though prevalence seemed to have been lower than in Ashkenazi or Greenlandic populations, the committee referred to economic studies (see below) which showed genetic counselling and genetic testing of Ashkenazi and Sephardi Jewish populations to be cost effective. They decided based on this to extend the offer of genetic counselling and genetic testing to the Jewish Sephardi population. They noted that this eligibility for testing should be recognised by healthcare professionals and awareness should be raised so that people can come forward for testing.</p><p>The committee discussed that studies reporting the prevalence of pathogenic variants in Jewish populations usually do not undertake the whole genome sequencing as they target specific founder variants. A founder genetic variant is an alteration observed with high frequency in a group that is or was geographically or culturally isolated, in which 1 or more of the ancestors was a carrier of the altered gene. Testing for only the founder variant is more efficient and less costly than testing the whole genome.</p><p>In the protocol for this evidence review the committee intentionally kept the list of pathogenic variants broad. They therefore agreed that this needs to be considered in line with which pathogenic variant should be captured on a genetic test panel (evidence review J). In relation to other genes and other population, based on evidence review J they noted that ATM and CHEK2 did not appear to be closely associated with ovarian cancer and they are currently also not listed in <a href="https://www.england.nhs.uk/publication/national-genomic-test-directories/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">the UK national genomic test directory</a> in relation to ovarian cancer. They therefore did not recommend testing of the populations that were listed for these two variants.</p><p>Whilst there were other populations with <i>BRCA1</i> or <i>BRCA2</i> pathogenic variants the committee discussed that for many of them the point estimate of the prevalence was quite low even if there was some overlap in confidence intervals (suggesting that potentially the number of cases within the sample was low leading to wide confidence intervals). This combined with the fact that there was no supporting economic evidence meant that the committee was not confident enough to comment on these population given also that it would potentially result in some resource implications. Whilst other reported genes are associated with ovarian cancer in line with evidence report J (<i>BRIP1, PALB2, RAD51C, RAD51D MLH1, MSH2 and MSH6</i>) <i>PMS2</i> is associated with endometrial cancer alone therefore not relevant in the context of ovarian cancer. The committee discussed that evidence needs to be considered in relation to lifetime risk associated with a particular pathogenic variant. The committee noted that the lifetime risk associated with <i>BRIP1, PALB2, RAD51C, RAD51D MLH1, MSH2</i> and <i>MSH6</i> pathogenic variants is lower than for <i>BRCA1</i> and <i>BRCA2</i>. They noted that this information was available from the <a href="https://www.ukcgg.org/information-education/ukcgg-leaflets-and-guidelines/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UK cancer genetics group</a>. Having a lower lifetime risk would mean that a considerable larger prevalence would be needed to make this an effective or cost effective strategy. Without such data the committee did not feel confident to suggest thresholds for testing related to these pathogenic variants.</p></div><div id="niceng241er8.s1.1.11.3.2"><h5>Information provision</h5><p>The committee noted that people from these populations may not be aware that they may have an increased risk of having a pathogenic variant when they visit healthcare professionals. They emphasised that information needs to be given to them so that they know why there is this risk and what the next steps may be so that they can make an informed decision about genetic counselling and genetic testing.</p></div><div id="niceng241er8.s1.1.11.3.3"><h5>Referral criteria</h5><p>Based on the evidence they listed being a person from an at-risk population as one of the criteria that healthcare professionals in primary care and secondary care should use for referral for genetic counselling and genetic testing.</p></div><div id="niceng241er8.s1.1.11.3.4"><h5>Cost effectiveness and resource use</h5><p>The committee explained that the ovarian cancer risk associated with a pathogenic variant would be similar in, for example, Jewish and non-Jewish carriers. That is, any excess risk of ovarian cancer in Jewish women with a family history of ovarian cancer would be largely attributable to mutations in <i>BRCA</i>.</p><p>The committee explained that the prevalence of pathogenic variants in Ashkenazi/Sephardi Jewish and Greenlandic populations aligned with the carrier probability identified by de-novo modelling undertaken for this guideline, at which offering genetic testing to people with a family history of cancer suggestive of pathogenic variants in ovarian cancer predisposition genes was found to be cost-effective (for methods and results, please see evidence review F on carrier probability for genetic testing in unaffected individuals).</p><p>For example, the de-novo modelling found that in females aged 30-49, offering genetic counselling and testing was found to be cost-effective if the probability of having a pathogenic variant was 2% or higher. In those aged 50-59, the threshold was 3% or higher, in those aged 60-69, it was 6% or higher, and in those aged 70 or over it was 10% or higher.</p><p>The committee explained that the majority of eligible people for testing would be aged under 60 and that the cost-effective carrier probabilities in these age groups align with the prevalence of ovarian cancer in, for example, Ashkenazi Jewish population, where the prevalence is approximately 3%.</p><p>There was also existing economic evidence from three studies conducted in the UK. The committee noted that all studies found <i>BRCA</i> genetic testing of all Sephardi or Ashkenazi Jewish women was cost-effective, compared to clinical or family history-based criteria. The committee discussed some of the limitations associated with the existing economic evidence. For example, genetic counselling in one of the studies was done using the DVD format followed by shorter face-to-face counselling. This may not represent current practice for all services. It was also noted that some of the model inputs may be outdated due to the studies being a few years old and none of the modelling studies considered treatment with PARP inhibitors.</p><p>Also, the committee highlighted that all UK studies were conducted by the same academic group and used similar assumptions. They expressed concerns about the generalisability of these findings. Despite the above limitations associated with the existing economic evidence the incremental cost-effectiveness ratios in all included UK economic studies were substantially below the lower NICE cost-effectiveness threshold of £20,000 per quality-adjusted life year (QALY) gained. Large changes in costs would be required to reverse the conclusions from these studies.</p><p>An additional Israeli study on genetic testing for all Ashkenazi Jewish women exceeded NICE’s upper cost-effectiveness threshold of £30,000 per QALY gained. However, the committee noted that this study was only partially applicable to NICE’s decision-making context and that it had potentially serious limitations, such as an unclear time horizon and the fact that the study included genetic testing uptake in the index population, which is not relevant to the decision problem.</p><p>The committee acknowledged that more people from at-risk populations may be coming forward for genetic counselling and testing, so there will be resource implications. They noted that this may initially be challenging to implement due to many more people accessing genetic services, which are already overstretched. This will become easier after the first wave because numbers would decrease naturally, easing the pressure on services. However, this will also potentially increase demand on existing support services, such as psychological and menopause services.</p><p>The committee noted that despite these challenges, offering genetic counselling and testing for at-risk populations, based only on the family background criteria for genetic testing, would identify more individuals for risk management, which is a cost-effective strategy. The committee noted that there is an NHS initiative to test Jewish people for the pathogenic founder variant (<a href="https://jewishbrca.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NHS Jewish BRCA testing programme</a>), and linking up with these projects could facilitate implementation, making the process easier, because some of the pathways into the services would already be established.</p><p>The committee concluded that the combined evidence from the existing UK economic studies, de-novo modelling undertaken for this guideline regarding threshold carrier probabilities for genetic testing and the NHS programme for the Jewish community provided sufficient support for raising awareness and improving access to genetic counselling and testing in Ashkenazi/Sephardi Jewish and Greenlandic populations.</p></div><div id="niceng241er8.s1.1.11.3.5"><h5>Other factors the committee took into account</h5><p>The committee discussed the range of different populations for which evidence was found. They noted, based on expertise, that the Polish population is sometimes referred to as an at-risk population in the literature they knew of. However, the evidence did not show this and they therefore did not include this population in their recommendation. It is also noteworthy that it has been reported that the population from Orkney in Scotland has a high prevalence of <i>BRCA1 (</i><a href="https://www.bbc.co.uk/news/uk-scotland-highlands-islands-64951429" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Breast cancer gene linked to Orkney islands - BBC News</a>). However, they discussed that this is based on a single study which found a prevalence of 0.96% [95% confidence interval of 0.59% to 1.48%]. This risk is substantially lower than the risks observed in other high-risk populations and is below the threshold for cost-effective genetic testing (see evidence review F). Therefore, the committee has decided not to include this population in their recommendation at this point in time.</p></div></div></div><div id="niceng241er8.s1.1.12"><h4>Recommendations supported by this evidence review</h4><p>This evidence review supports recommendation 1.4.5 and bullet point 2 in <a href="/books/NBK604391/table/niceng241er8.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er8tab1">Table 1</a> in the NICE guideline.</p></div></div><div id="niceng241er8.rl.r1"><h3>References</h3><ul class="simple-list"><div id="niceng241er8.rl.r1.1"><h4>Effectiveness</h4><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref1"><p id="p-407">
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<strong>Ahearn 2022</strong>
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PP, Derkach A et al. Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations. Cancer Epidemiol Biomarkers Prev
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<strong>Castillo 2022</strong>
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[<a href="/pmc/articles/PMC9184654/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9184654</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35332707" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35332707</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref7"><p id="p-413">
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<strong>Gabai-Kapara 2014</strong>
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[<a href="https://pubmed.ncbi.nlm.nih.gov/31507061" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31507061</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref16"><p id="p-422">
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<strong>Metcalfe 2010</strong>
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</p>Metcalfe
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<strong>Noskowicz 2014</strong>
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</p>Noskowicz, Monika, Bogdanova, Natalia, Bermisheva, Marina
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<strong>Pavlovica 2022</strong>
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</p>Pavlovica, K., Irmejs, A., Noukas, M.
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[<a href="https://pubmed.ncbi.nlm.nih.gov/35314380" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35314380</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref19"><p id="p-425">
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<strong>Pelttari 2012</strong>
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</p>Pelttari, Liisa M, Kiiski, Johanna, Nurminen, Riikka
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[<a href="/pmc/articles/PMC5426530/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5426530</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22652533" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22652533</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref20"><p id="p-426">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/8841191" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8841191</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref22"><p id="p-428">
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<strong>Shiri-Sverdlov 2001</strong>
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</p>Shiri-Sverdlov
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R, Gershoni-Baruch
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R, Ichezkel-Hirsch
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G
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[<a href="https://pubmed.ncbi.nlm.nih.gov/11493753" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11493753</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref23"><p id="p-429">
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<strong>Struewing 1995</strong>
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</p>Struewing
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JP, Abeliovich
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D, Peretz
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12(3): 473–8, 2013
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<strong>Thorlacius 1997</strong>
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</p>Thorlacius, S., Sigurdsson, S., Bjarnadottir, H.
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<strong>Tiller 2022</strong>
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</p>Tiller
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JM, Cousens
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NE, Kaur
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June
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2022. [<a href="https://pubmed.ncbi.nlm.nih.gov/36763037" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36763037</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref27"><p id="p-433">
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<strong>Trottier 2016</strong>
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</p>Trottier, M, Lunn, J, Butler, R
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et al. Prevalence of founder mutations in the <em>BRCA1</em> and <em>BRCA2</em> genes among unaffected women from the Bahamas. Clinical genetics
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[<a href="https://pubmed.ncbi.nlm.nih.gov/25920394" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25920394</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref28"><p id="p-434">
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<strong>Wokolorczyk 2020</strong>
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</p>Wokolorczyk, Dominika, Kluzniak, Wojciech, Huzarski, Tomasz
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et al. Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland. International journal of cancer
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147(10): 2793–2800, 2020
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[<a href="https://pubmed.ncbi.nlm.nih.gov/32875559" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32875559</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref29"><p id="p-435">
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<strong>Zhang 2022</strong>
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</p>Zhang, L., Qin, Z., Huang, T.
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et al. Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population. Journal of Medical Genetics
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59(7): 652–661, 2022
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[<a href="/pmc/articles/PMC9252855/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9252855</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34172528" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34172528</span></a>]</div></p></li></ul></div><div id="niceng241er8.rl.r1.2"><h4>Economic</h4><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref30"><p id="p-436">
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<strong>Manchanda 2015</strong>
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</p>Manchanda, R., Legood, R., Burnell, M., McGuire, A., Raikou, M., Loggenberg, K., et al., Cost-effectiveness of population screening for <em>BRCA</em> mutations in Ashkenazi Jewish women compared with family history–based testing, JNCI: Journal of the National Cancer Institute, 107, 2015 [<a href="/pmc/articles/PMC4301704/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4301704</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25435542" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25435542</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref31"><p id="p-437">
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<strong>Manchanda 2017</strong>
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</p>Manchanda, R., Patel, S., Antoniou, A.C., Levy-Lahad, E., Turnbull, C., Evans, D.G., et al., Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry, American journal of obstetrics and gynecology, 217, 578–e1, 2017 [<a href="https://pubmed.ncbi.nlm.nih.gov/28690137" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28690137</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref32"><p id="p-438">
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<strong>Michaelson-Cohen 2022</strong>
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</p>Michaelson-Cohen, R., Cohen, M.J., Cohen, C., Greenberg, D., Shmueli, A., Lieberman, S., et al., Real world cost-effectiveness analysis of population screening for BRCA variants among Ashkenazi Jews compared with family history-based strategies, Cancers, 14, 1–16, 2022 [<a href="/pmc/articles/PMC9776581/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9776581</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36551598" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36551598</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er8.ref33"><p id="p-439">
|
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<strong>Patel 2018</strong>
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</p>Patel, S., Legood, R., Evans, D.G., Turnbull, C., Antoniou, A.C., Menon, U., et al., Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women, American journal of obstetrics and gynecology, 218, 431–e1, 2018 [<a href="https://pubmed.ncbi.nlm.nih.gov/29288066" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29288066</span></a>]</div></p></li></ul></div></ul></div></div><div id="appendixesappgroup1"><h2 id="_appendixesappgroup1_">Appendices</h2><div id="niceng241er8.appa"><h3>Appendix A. Review protocol</h3><p id="niceng241er8.appa.et1"><a href="/books/NBK604391/bin/niceng241er8-appa-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Review protocol for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 231K)</span></p></div><div id="niceng241er8.appb"><h3>Appendix B. Literature search strategies</h3><p id="niceng241er8.appb.et1"><a href="/books/NBK604391/bin/niceng241er8-appb-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Literature search strategies for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 222K)</span></p></div><div id="niceng241er8.appc"><h3>Appendix C. Effectiveness evidence study selection</h3><p id="niceng241er8.appc.et1"><a href="/books/NBK604391/bin/niceng241er8-appc-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Study selection for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 210K)</span></p></div><div id="niceng241er8.appd"><h3>Appendix D. Evidence tables</h3><p id="niceng241er8.appd.et1"><a href="/books/NBK604391/bin/niceng241er8-appd-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Evidence tables for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 673K)</span></p></div><div id="niceng241er8.appe"><h3>Appendix E. Forest plots</h3><p id="niceng241er8.appe.et1"><a href="/books/NBK604391/bin/niceng241er8-appe-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Forest plots for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 1.0M)</span></p></div><div id="niceng241er8.appf"><h3>Appendix F. GRADE tables</h3><p id="niceng241er8.appf.et1"><a href="/books/NBK604391/bin/niceng241er8-appf-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">GRADE tables for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 251K)</span></p></div><div id="niceng241er8.appg"><h3>Appendix G. Economic evidence study selection</h3><div id="niceng241er8.appg.s1"><h4>Study selection for: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</h4><p>One global search was undertaken – please see <a href="/books/NBK604391/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">Supplement 2</a> for details on study selection.</p></div></div><div id="niceng241er8.apph"><h3>Appendix H. Economic evidence tables</h3><p id="niceng241er8.apph.et1"><a href="/books/NBK604391/bin/niceng241er8-apph-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Economic evidence tables for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</a><span class="small"> (PDF, 226K)</span></p></div><div id="niceng241er8.appi"><h3>Appendix I. Economic model</h3><div id="niceng241er8.appi.s1"><h4>Economic model for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</h4><p>No economic analysis was conducted for this review question.</p></div></div><div id="niceng241er8.appj"><h3>Appendix J. Excluded studies</h3><div id="niceng241er8.appj.s1"><h4>Excluded studies for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</h4><div id="niceng241er8.appj.s1.1"><h5>Excluded effectiveness studies</h5><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er8appjtab1"><a href="/books/NBK604391/table/niceng241er8.appj.tab1/?report=objectonly" target="object" title="Table 16" class="img_link icnblk_img" rid-ob="figobniceng241er8appjtab1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er8.appj.tab1"><a href="/books/NBK604391/table/niceng241er8.appj.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er8appjtab1">Table 16</a></h4><p class="float-caption no_bottom_margin">Excluded studies and reasons for their exclusion. </p></div></div></div><div id="niceng241er8.appj.s1.2"><h5>Excluded economic studies</h5><p>See <a href="/books/NBK604391/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">Supplement 2</a> for the list of excluded studies across all reviews.</p></div></div></div><div id="niceng241er8.appk"><h3>Appendix K. Research recommendations</h3><div id="niceng241er8.appk.s1"><h4>Research recommendations for review question: Which populations with a high prevalence of pathogenic variants for familial ovarian cancer would meet the risk threshold for genetic testing?</h4><p>No research recommendations were made for this review question.</p></div></div></div></div><div class="fm-sec"><div><p>Final</p></div><div><p>Evidence reviews underpinning recommendations 1.3.1, 1.4.5 and bullet point 2 in table 1 in the NICE guideline</p><p>These evidence reviews were developed by NICE</p></div><div><p><b>Disclaimer</b>: The recommendations in this guideline represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take this guideline fully into account, alongside the individual needs, preferences and values of their patients or service users. The recommendations in this guideline are not mandatory and the guideline does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.</p><p>Local commissioners and/or providers have a responsibility to enable the guideline to be applied when individual health professionals and their patients or service users wish to use it. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this guideline should be interpreted in a way that would be inconsistent with compliance with those duties.</p><p>NICE guidelines cover health and care in England. Decisions on how they apply in other UK countries are made by ministers in the <a href="https://www.gov.wales/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Welsh Government</a>, <a href="http://www.scotland.gov.uk/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Scottish Government</a>, and <a href="http://www.northernireland.gov.uk/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Northern Ireland Executive</a>. All NICE guidance is subject to regular review and may be updated or withdrawn.</p></div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © NICE 2024.</div><div class="small"><span class="label">Bookshelf ID: NBK604391</span><span class="label">PMID: <a href="https://pubmed.ncbi.nlm.nih.gov/38900918" title="PubMed record of this title" ref="pagearea=meta&targetsite=entrez&targetcat=link&targettype=pubmed">38900918</a></span></div></div><div class="small-screen-prev"></div><div class="small-screen-next"></div></article><article data-type="table-wrap" id="figobniceng241er8tab1"><div id="niceng241er8.tab1" class="table"><h3><span class="label">Table 1</span><span class="title">Summary of the protocol (PICO table)</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604391/table/niceng241er8.tab1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er8.tab1_lrgtbl__"><table><tbody><tr><th id="hd_b_niceng241er8.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Population</th><td headers="hd_b_niceng241er8.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">All people, but subgrouped according to self-reported ancestry. Population groups with high prevalence of pathogenic variants for familial ovarian cancer are of particular interest</td></tr><tr><th id="hd_b_niceng241er8.tab1_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Test</th><td headers="hd_b_niceng241er8.tab1_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Germline pathogenic variant analysis</td></tr><tr><th id="hd_b_niceng241er8.tab1_1_1_3_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Comparator</th><td headers="hd_b_niceng241er8.tab1_1_1_3_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Not applicable</td></tr><tr><th id="hd_b_niceng241er8.tab1_1_1_4_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Outcomes</th><td headers="hd_b_niceng241er8.tab1_1_1_4_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><p><b>Critical</b></p><p>Prevalence of pathogenic variants associated with familial ovarian cancer, such as:
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<ul><li class="half_rhythm"><div><i>ATM</i></div></li><li class="half_rhythm"><div><i>BRCA1</i></div></li><li class="half_rhythm"><div><i>BRCA2</i></div></li><li class="half_rhythm"><div><i>BRIP1</i></div></li><li class="half_rhythm"><div><i>CHEK2</i></div></li><li class="half_rhythm"><div><i>PALB2</i></div></li><li class="half_rhythm"><div><i>MLH1</i></div></li><li class="half_rhythm"><div><i>MSH2</i></div></li><li class="half_rhythm"><div><i>MSH6</i></div></li><li class="half_rhythm"><div><i>RAD51C</i></div></li><li class="half_rhythm"><div><i>RAD51D</i></div></li><li class="half_rhythm"><div><i>PMS2</i></div></li><li class="half_rhythm"><div><i>DICER1</i></div></li><li class="half_rhythm"><div><i>SMARCA4</i></div></li></ul></p>
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<p><b>Important</b></p><p>None</p></td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobniceng241er8tab2"><div id="niceng241er8.tab2" class="table"><h3><span class="label">Table 2</span><span class="title">Summary of included studies</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604391/table/niceng241er8.tab2/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er8.tab2_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Study</th><th id="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Population</th><th id="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Outcomes</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref1" rid="niceng241er8.ref1">Abul-Husn 2019</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>USA</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=6874 African American</p>
|
|
<p>N=3889 Ashkenazi Jews</p>
|
|
<p>Age (median (range), years): 59 (45-70)</p>
|
|
<p>Gender: women 59.3%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref2" rid="niceng241er8.ref2">Ahearn 2022</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Ghana</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1563 Ghanaians in Ghana</p>
|
|
<p>Age (mean (SD), years): 45.8 (12.7)</p>
|
|
<p>Gender: women</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of:
|
|
<ul class="circle"><li class="half_rhythm"><div><i>ATM</i></div></li><li class="half_rhythm"><div><i>BRCA1/2</i></div></li><li class="half_rhythm"><div><i>BRIP1</i></div></li><li class="half_rhythm"><div><i>CHEK2</i></div></li><li class="half_rhythm"><div><i>PALB2</i></div></li><li class="half_rhythm"><div><i>MLH1</i></div></li><li class="half_rhythm"><div><i>MLH2</i></div></li><li class="half_rhythm"><div><i>MSH2</i></div></li><li class="half_rhythm"><div><i>MSH6</i></div></li><li class="half_rhythm"><div><i>RAD51C</i></div></li><li class="half_rhythm"><div><i>RAD51D</i></div></li><li class="half_rhythm"><div><i>PMS2</i> pathogenic variants</div></li></ul></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref3" rid="niceng241er8.ref3">Anisimenko 2013</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Russia</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=7920 Russians in Russia</p>
|
|
<p>Age (mean (SD), years): 53.8 (7), range 4669</p>
|
|
<p>Gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref4" rid="niceng241er8.ref4">Bar-Sade 1997</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=639 Iraqi-Jewish population (Iraqi-born) in Israel</p>
|
|
<p>Age (years, range): 32-93</p>
|
|
<p>Gender: women 51.5%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref5" rid="niceng241er8.ref5">Bar-Sade 1998</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=704 non-Ashkenazi Israeli Jews of:</p>
|
|
<p>n=354 Moroccan origin</p>
|
|
<p>n=200 Yemenite origin</p>
|
|
<p>n=150 Iranian origin</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref6" rid="niceng241er8.ref6">Castillo 2022</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Uruguay</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=327 Ashkenazi Jews in Uruguay</p>
|
|
<p>Age categories (years, n): <40=86 (26.3%), >=40 to <60=174 (53.2%), >=60=67 (20.5%)</p>
|
|
<p>Gender: women 95.4%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref7" rid="niceng241er8.ref7">Cybulski 2019</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Poland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=2036 Polish people in Poland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of:
|
|
<ul class="circle"><li class="half_rhythm"><div><i>BRCA1</i></div></li><li class="half_rhythm"><div><i>CHEK2</i></div></li><li class="half_rhythm"><div><i>PALB2</i> pathogenic variants</div></li></ul></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref8" rid="niceng241er8.ref8">Gabai-Kapara 2014</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=8195 Ashkenazi Jews in Israel</p>
|
|
<p>Age: NR</p>
|
|
<p>Gender: men 100%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref9" rid="niceng241er8.ref9">Harboe 2009</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Greenland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1071 Greenlandic Inuit origin population in Greenland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref10" rid="niceng241er8.ref10">Hartge 1999</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>USA</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=5318 Ashkenazi Jews in the US</p>
|
|
<p>Age categories (in those without cancer, years (n)): 21-39=915, 40-59=2684, >=60=1363</p>
|
|
<p>Gender: women 70.4%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref11" rid="niceng241er8.ref11">Johannesdottir 1996</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Iceland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=499 Icelanders in Iceland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref12" rid="niceng241er8.ref12">Kerr 2023</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>UK</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=2088 Orcadians in the Northern Isles of Scotland, UK</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref13" rid="niceng241er8.ref13">Lener 2016</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Poland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=4000 Polish people in Poland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of:
|
|
<ul class="circle"><li class="half_rhythm"><div><i>BRCA1</i></div></li><li class="half_rhythm"><div><i>CHEK2</i></div></li><li class="half_rhythm"><div><i>PALB2</i> pathogenic variants</div></li></ul></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref14" rid="niceng241er8.ref14">Lieberman 2017</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1771 Ashkenazi Jews in Israel</p>
|
|
<p>Age (mean (SD), years): 52 (13)</p>
|
|
<p>Gender: women 79%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref15" rid="niceng241er8.ref15">Manchanda 2020</a>
|
|
</p>
|
|
<p>RCT (data were analysed as observational and not as randomised data)</p>
|
|
<p>UK</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1034 Ashkenazi Jews in the UK</p>
|
|
<p>Age (mean (SD), years): family history group n=54.3 (14.31), population screening group n=54.3 (14.99)</p>
|
|
<p>Gender: women 66.8%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Metcalfe 2020</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Canada</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=2080 Ashkenazi/Sephardic Jews in Canada</p>
|
|
<p>Age (mean (range), years): 49.3 (24-79)</p>
|
|
<p>Gender: women 100%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref17" rid="niceng241er8.ref17">Noskowicz 2014</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Belarus, Germany and Russia</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1242 Belarusians in Belarus</p>
|
|
<p>N=989 Germans in Germany</p>
|
|
<p>N=596 Russians in Russia</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>PALB2</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref18" rid="niceng241er8.ref18">Pavlovica 2022</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Estonia</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=4776 Estonians in Estonia</p>
|
|
<p>Age (mean, years): 49.3 (24-79)</p>
|
|
<p>Gender: women 47%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>CHEK2</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref19" rid="niceng241er8.ref19">Pelttari 2012</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Finland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=2102 Finns in Finland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>RAD51D</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref20" rid="niceng241er8.ref20">Quintana-Murci 2005</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=442 Iranian non-Jews in Israel</p>
|
|
<p>Age: NR</p>
|
|
<p>Gender: men 100%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref21" rid="niceng241er8.ref21">Roa 1996</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel, USA</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=between 398 and 403 Ashkenazi Jews in Israel</p>
|
|
<p>N=between 2687 and 2717 Ashkenazi Jews in the US*</p>
|
|
<p>*sample size differs for different <i>BRCA1</i> mutations tested</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref22" rid="niceng241er8.ref22">Shiri-Sverdlov 2001</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=289 Iraqi Jews in Israel</p>
|
|
<p>Age: NR</p>
|
|
<p>Gender: women 66.8%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref23" rid="niceng241er8.ref23">Struewing 1995</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Israel, USA</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=858 Ashkenazi Jews in Israel and the US</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref24" rid="niceng241er8.ref24">Teodorczyk 2013</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Poland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=8302 Polish people in Poland</p>
|
|
<p>Age (mean (SD), years): men 61.2 (23-90), women 52.2 (19-91)</p>
|
|
<p>Gender: 52%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>CHEK2</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref25" rid="niceng241er8.ref25">Thorlacius 1997</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Iceland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=520 Icelanders in Iceland</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA2</i> pathogenic variant</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref26" rid="niceng241er8.ref26">Tiller 2022</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Australia</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=2167 (tested, overall N=2274) Jews in Australia of which 94.5% Ashkenazi, 7.8% Sephardic</p>
|
|
<p>Age (mean (SD), years): 48 (14)</p>
|
|
<p>Gender: women 25.3%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref27" rid="niceng241er8.ref27">Trottier 2016</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>Bahamas</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=1089 Bahamians in Bahamas</p>
|
|
<p>Age: NR</p>
|
|
<p>Gender: women 100%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of <i>BRCA1/2</i> pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref28" rid="niceng241er8.ref28">Wokolorczyk 2020</a>
|
|
</p>
|
|
<p>Case-control</p>
|
|
<p>Poland</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=308 Polish people in Poland</p>
|
|
<p>Age (mean (range), years): women: 56.9 (40-84); men: 62.1 (45-89)</p>
|
|
<p>Gender: women 52%</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of:
|
|
<ul class="circle"><li class="half_rhythm"><div><i>ATM</i></div></li><li class="half_rhythm"><div><i>BRCA1/2</i></div></li><li class="half_rhythm"><div><i>CHEK2</i></div></li><li class="half_rhythm"><div><i>MSH2</i></div></li><li class="half_rhythm"><div><i>MSH6</i> pathogenic variants</div></li></ul></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref29" rid="niceng241er8.ref29">Zhang 2022</a>
|
|
</p>
|
|
<p>Cross-sectional</p>
|
|
<p>China, Macau, Singapore</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=18844 Ethnic Chinese population of which 61.8% mainland Chinese, 23.6% Macau Chinese, 14.6% Singapore Chinese</p>
|
|
<p>Age and gender: NR</p>
|
|
</td><td headers="hd_h_niceng241er8.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Prevalence of:
|
|
<ul class="circle"><li class="half_rhythm"><div><i>MLH1</i></div></li><li class="half_rhythm"><div><i>MSH2/6</i></div></li><li class="half_rhythm"><div><i>PMS2</i> pathogenic variants</div></li></ul></div></li></ul>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">NR: not reported; SD: standard deviation</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobniceng241er8tab3"><div id="niceng241er8.tab3" class="table"><h3><span class="label">Table 3</span><span class="title">Economic evidence profiles for <i>BRCA1/BRAC2</i> genetic testing (versus clinical or family history-based genetic testing) for Jewish women unaffected by cancer:</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604391/table/niceng241er8.tab3/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er8.tab3_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er8.tab3_1_1_1_1" rowspan="2" colspan="1" headers="hd_h_niceng241er8.tab3_1_1_1_1" style="text-align:left;vertical-align:bottom;">Study</th><th id="hd_h_niceng241er8.tab3_1_1_1_2" rowspan="2" colspan="1" headers="hd_h_niceng241er8.tab3_1_1_1_2" style="text-align:left;vertical-align:bottom;">Limitations</th><th id="hd_h_niceng241er8.tab3_1_1_1_3" rowspan="2" colspan="1" headers="hd_h_niceng241er8.tab3_1_1_1_3" style="text-align:left;vertical-align:bottom;">Applicability</th><th id="hd_h_niceng241er8.tab3_1_1_1_4" rowspan="2" colspan="1" headers="hd_h_niceng241er8.tab3_1_1_1_4" style="text-align:left;vertical-align:bottom;">Other comments</th><th id="hd_h_niceng241er8.tab3_1_1_1_5" colspan="3" rowspan="1" style="text-align:left;vertical-align:bottom;">Incremental</th><th id="hd_h_niceng241er8.tab3_1_1_1_6" rowspan="2" colspan="1" headers="hd_h_niceng241er8.tab3_1_1_1_6" style="text-align:left;vertical-align:bottom;">Uncertainty</th></tr><tr><th headers="hd_h_niceng241er8.tab3_1_1_1_5" id="hd_h_niceng241er8.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">Costs <sup>[1]</sup></th><th headers="hd_h_niceng241er8.tab3_1_1_1_5" id="hd_h_niceng241er8.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">QALYs</th><th headers="hd_h_niceng241er8.tab3_1_1_1_5" id="hd_h_niceng241er8.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">Cost effectiveness (Cost/QALY)</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er8.tab3_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref33" rid="niceng241er8.ref33">Patel 2018</a>
|
|
</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[2]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[3]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Markov)</p>
|
|
<p>Population: Sephardi Jewish women aged ≥30 years</p>
|
|
<p>Time horizon: Lifetime (extending to 83 years)</p>
|
|
<p>Outcome: QALYs</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£67.04</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">1.0006</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£67.04</td><td headers="hd_h_niceng241er8.tab3_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Probability of being cost-effective: 100% at the £20k/QALY gained.</p>
|
|
<p>- The model was most sensitive to <i>BRCA1</i> mutation prevalence estimates in the Sephardi population and family history positive individuals. However, the conclusions were unchanged and the ICER of genetic testing remained below £20k/QALY gained.</p>
|
|
<p>- The conclusions were unchanged in scenario analyses where no benefit in breast cancer risk reduction from undergoing a risk-reducing oophorectomy (RRSO) was modelled, no HRT was offered or a lower risk-reducing mastectomy (RRM) rate of 13% (base case: 0.60) and RRSO rate of 49% (base-case: 0.66) was modelled.</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab3_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref31" rid="niceng241er8.ref31">Manchanda 2017</a>
|
|
</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[4]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[5]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Markov)</p>
|
|
<p>Population: Ashkenazi Jewish (AJ) women ≥30 years with four to one AJ grandparents.</p>
|
|
<p>Time horizon: Lifetime (extending till the age of 83 years)</p>
|
|
<p>Outcome: QALYs</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Grandparents:</p>
|
|
<p>Four</p>
|
|
<p>-£94</p>
|
|
<p>Three</p>
|
|
<p>-£62</p>
|
|
<p>Two</p>
|
|
<p>-£26</p>
|
|
<p>One</p>
|
|
<p>£13</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Grandparents:</p>
|
|
<p>Four</p>
|
|
<p>0.032</p>
|
|
<p>Three</p>
|
|
<p>0.027</p>
|
|
<p>Two</p>
|
|
<p>0.021</p>
|
|
<p>One</p>
|
|
<p>0.015</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Dominant in women with four to two AJ grandparents £863/QALY in women with one AJ grandparent</td><td headers="hd_h_niceng241er8.tab3_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- For populations with four, three, two or one AJ grandparent(s) the probability of genetic testing being cost-effective was ≥95% at the £20k/QALY gained threshold.</p>
|
|
<p>- The conclusions remained unchanged in scenario analyses where no benefit with premenopausal RRSO on reduction in breast cancer risk (base case: 0.49) was modelled, a lower RRM rate of 13% (base case: 0.52) as reported in Israeli women was used or assuming 20% risk-reducing surgery uptake (base case: RRSO=0.55, RRM=0.52).</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab3_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref30" rid="niceng241er8.ref30">Manchanda 2015</a>
|
|
</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[6]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[7]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Markov)</p>
|
|
<p>Population: AJ women aged ≥30 years</p>
|
|
<p>Time horizon: Lifetime</p>
|
|
<p>Outcome: QALYs</p>
|
|
</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">-£64</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">0.031</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Dominant</td><td headers="hd_h_niceng241er8.tab3_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>-Probability of being cost-effective was 94% at £20k/QALY gained threshold.</p>
|
|
<p>- The conclusions were robust to changes in utility values, costs, penetrance estimates and rate of uptake of preventive/risk-reducing surgery.</p>
|
|
<p>- The model was highly sensitive to the overall <i>BRCA</i> prevalence and <i>BRCA</i> prevalence in family history negative women. However, the conclusions remained unchanged and the genetic testing remained either dominant or resulted in an ICER < £20k/QALY gained.</p>
|
|
<p>- The genetic testing remained dominant when modelling breast cancer prophylaxis with SERMs (tamoxifen/raloxifene) in <i>BRCA</i> carriers.</p>
|
|
<p>- Conclusions were unchanged in a scenario where women opt for genetic testing at age 50 (average age of menopause) with a median age for RRSO and RRM at 54 years (just below the weighted average age of ovarian cancer onset in <i>BRCA1/BRCA2</i> carriers).</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er8.tab3_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er8.ref32" rid="niceng241er8.ref32">Michaelson-Cohen 2022</a>
|
|
</p>
|
|
<p>Israel</p>
|
|
<p>Cost-utility analysis</p>
|
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</td><td headers="hd_h_niceng241er8.tab3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Potentially serious <sup>[8]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Partially <sup>[9]</sup></td><td headers="hd_h_niceng241er8.tab3_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<p>Modelling study (Decision tree)</p>
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<p>Population: AJ women aged 30 years</p>
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<p>Time horizon: Lifetime</p>
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<p>Outcome: QALYs</p>
|
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</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£187</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">0.006</td><td headers="hd_h_niceng241er8.tab3_1_1_1_5 hd_h_niceng241er8.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£31,167</td><td headers="hd_h_niceng241er8.tab3_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<p>-Probability of genetic testing being cost-effective was 0.50 at WTP of £30,963/QALY.</p>
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<p>- The ICER of genetic testing was sensitive to the carrier prevalence in AJ population and testing rates (resulted in ICERs > £137,612/QALY). Also sensitive to BC reduction post RRSO, OC risk in carriers and OC risk reduction post RRSO with ICERs approaching £68,806/QALY.</p>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Abbreviations: AJ: Ashkenazi Jewish; HRT: Hormone replacement therapy; ICER: Incremental cost-effectiveness ratio; k: Thousand; QALY: Quality-adjusted life-years; RRM: Risk reducing mastectomy; RRSO: Risk reducing salpingo-oophorectomy; SERM: Selective Estrogen Receptor Modulators; UK: United Kingdom</p></div></dd></dl><dl class="bkr_refwrap"><dt>[1]</dt><dd><div id="niceng241er8.tab3_1"><p class="no_margin">Costs were converted to UK pounds using OECD purchasing power parities (PPPs)</p></div></dd></dl><dl class="bkr_refwrap"><dt>[2]</dt><dd><div id="niceng241er8.tab3_2"><p class="no_margin">Well conducted study and no notable limitations</p></div></dd></dl><dl class="bkr_refwrap"><dt>[3]</dt><dd><div id="niceng241er8.tab3_3"><p class="no_margin">UK study, QALYs</p></div></dd></dl><dl class="bkr_refwrap"><dt>[4]</dt><dd><div id="niceng241er8.tab3_4"><p class="no_margin">Overall well conducted study, limited deterministic sensitivity analyses</p></div></dd></dl><dl class="bkr_refwrap"><dt>[5]</dt><dd><div id="niceng241er8.tab3_5"><p class="no_margin">UK study, QALYs</p></div></dd></dl><dl class="bkr_refwrap"><dt>[6]</dt><dd><div id="niceng241er8.tab3_6"><p class="no_margin">Well conducted study and no notable limitations</p></div></dd></dl><dl class="bkr_refwrap"><dt>[7]</dt><dd><div id="niceng241er8.tab3_7"><p class="no_margin">UK study, QALYs</p></div></dd></dl><dl class="bkr_refwrap"><dt>[8]</dt><dd><div id="niceng241er8.tab3_8"><p class="no_margin">Unclear reporting, for example, presentation of incremental analysis was unclear making the interpretation of sensitivity analyses difficult; included uptake rates in an index population; unclear time horizon of the analysis</p></div></dd></dl><dl class="bkr_refwrap"><dt>[9]</dt><dd><div id="niceng241er8.tab3_9"><p class="no_margin">Israeli study</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobniceng241er8appjtab1"><div id="niceng241er8.appj.tab1" class="table"><h3><span class="label">Table 16</span><span class="title">Excluded studies and reasons for their exclusion</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604391/table/niceng241er8.appj.tab1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er8.appj.tab1_lrgtbl__"><table><thead><tr><th id="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Study</th><th id="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Reason for exclusion</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Alemar, B., Herzog, J., Brinckmann Oliveira Netto, C.
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et al. (2016) Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genetics
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209(9): 417–422
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|
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[<a href="https://pubmed.ncbi.nlm.nih.gov/27425403" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27425403</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Astiazaran-Symonds, E., Kim, J., Haley, J.S.
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et al. (2022) A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes. Cancers
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14(13): 3257
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[<a href="/pmc/articles/PMC9265005/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9265005</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35805029" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35805029</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Bahar, A Y, Taylor, P J, Andrews, L
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et al. (2001) The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer
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92(2): 440–5
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[<a href="https://pubmed.ncbi.nlm.nih.gov/11466700" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11466700</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Behl, Supriya, Hamel, Nancy, de Ladurantaye, Manon
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et al. (2020) Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. Scientific reports
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10(1): 6491
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[<a href="/pmc/articles/PMC7162921/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7162921</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32300229" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32300229</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Bisgin, A, Boga, I, Yalav, O
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et al. (2019) BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history. The breast journal
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25(5): 1029–1033
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[<a href="https://pubmed.ncbi.nlm.nih.gov/31228304" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31228304</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Bjorge, T., Lie, A.K., Hovig, E.
|
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et al. (2004) BRCA1 mutations in ovarian cancer and borderline tumours in Norway: A nested case-control study. British Journal of Cancer
|
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91(10): 1829–1834
|
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[<a href="/pmc/articles/PMC2410048/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2410048</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15477862" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15477862</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Bogdanova, N., Togo, A.V., Ratajska, M.
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et al. (2015) Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. Familial Cancer
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14(1): 145–149
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[<a href="https://pubmed.ncbi.nlm.nih.gov/25182961" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25182961</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Bretsky, P., Haiman, C.A., Gilad, S.
|
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et al. (2003) The relationship between twenty missense ATM variants and breast cancer risk: The multiethnic cohort. Cancer Epidemiology Biomarkers and Prevention
|
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12(8): 733–738 [<a href="https://pubmed.ncbi.nlm.nih.gov/12917204" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12917204</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Casolino, R., Paiella, S., Azzolina, D.
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et al. (2021) Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis. Journal of Clinical Oncology
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39(23): 2617–2631
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[<a href="/pmc/articles/PMC8331063/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8331063</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34197182" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34197182</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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CHEK2 Breast Cancer Case-Control, Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. American journal of human genetics
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74(6): 1175–82
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[<a href="/pmc/articles/PMC1182081/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1182081</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15122511" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15122511</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Ciuro, J., Beyer, A., Fritzler, J.
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et al. (2021) Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans. Clinical Breast Cancer
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21(3): e220–e227
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[<a href="https://pubmed.ncbi.nlm.nih.gov/33168447" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33168447</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Claus, E.B.; Stowe, M.; Carter, D. (2003) Family history of breast and ovarian cancer and the risk of breast carcinoma in situ. Breast Cancer Research and Treatment
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78(1): 7–15
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[<a href="https://pubmed.ncbi.nlm.nih.gov/12611452" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12611452</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Cybulski, C, Gorski, B, Huzarski, T
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et al. (2009) Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. Journal of medical genetics
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46(2): 132–5
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[<a href="https://pubmed.ncbi.nlm.nih.gov/18930998" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18930998</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Dansonka-Mieszkowska, Agnieszka, Kluska, Anna, Moes, Joanna
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et al. (2010) A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC medical genetics
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11: 20
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[<a href="/pmc/articles/PMC2829009/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2829009</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20122277" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20122277</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Dutil, Julie, Golubeva, Volha A, Pacheco-Torres, Alba L
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et al. (2015) The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective. Breast cancer research and treatment
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154(3): 441–53
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[<a href="/pmc/articles/PMC4661195/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4661195</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26564481" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26564481</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Narrative review</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Esai Selvan, Myvizhi, Zauderer, Marjorie G, Rudin, Charles M
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et al. (2020) Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk. Journal of thoracic oncology: official publication of the International Association for the Study of Lung Cancer
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15(12): 1871–1879
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[<a href="/pmc/articles/PMC8496202/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8496202</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32866655" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32866655</span></a>]
|
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Felix, G.E.S., Guindalini, R.S.C., Zheng, Y.
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et al. (2022) Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil. Breast Cancer Research and Treatment
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193(2): 485–494
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[<a href="/pmc/articles/PMC9090684/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9090684</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35353237" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35353237</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Ferla, R, Calo, V, Cascio, S
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et al. (2007) Founder mutations in BRCA1 and BRCA2 genes. Annals of oncology: official journal of the European Society for Medical Oncology
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18suppl6: vi93–8
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[<a href="https://pubmed.ncbi.nlm.nih.gov/17591843" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17591843</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Systematic review used as source of primary studies</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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FitzGerald, M G, Bean, J M, Hegde, S R
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et al. (1997) Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nature genetics
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15(3): 307–10
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[<a href="https://pubmed.ncbi.nlm.nih.gov/9054948" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9054948</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Foglietta, J, Ludovini, V, Bianconi, F
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et al. (2020) Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. Genes
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11(8) [<a href="/pmc/articles/PMC7464094/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7464094</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32806537" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32806537</span></a>]
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Frey, M.K., Kopparam, R.V., Ni Zhou, Z.
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et al. (2019) Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center. Cancer
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125(5): 690–697
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/30480775" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30480775</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Gal, Inabr, Kimmel, Gad, Gershoni-Baruch, Ruth
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et al. (2006) A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women. European journal of cancer (Oxford, England: 1990)
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42(8): 1129–34
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16624550" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16624550</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Gifoni, A.C.L.V.C., Gifoni, M.A.C., Wotroba, C.M.
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et al. (2022) Hereditary Breast Cancer in the Brazilian State of Ceara (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants. Frontiers in Oncology
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12: 932957
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|
[<a href="/pmc/articles/PMC9361024/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9361024</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35957908" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35957908</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Girard, Elodie, Eon-Marchais, Severine, Olaso, Robert
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et al. (2019) Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer
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144(8): 1962–1974
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[<a href="/pmc/articles/PMC6587727/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6587727</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30303537" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30303537</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Goldgar, David E, Healey, Sue, Dowty, James G
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et al. (2011) Rare variants in the ATM gene and risk of breast cancer. Breast cancer research: BCR
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13(4): r73
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[<a href="/pmc/articles/PMC3236337/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3236337</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21787400" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21787400</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Gomaa Mogahed, Salwa H, Hamed, Yasser S, Ibrahim Moursy, Yassmin E
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et al. (2020) Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique. Asian Pacific journal of cancer prevention: APJCP
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21(2): 431–438
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[<a href="/pmc/articles/PMC7332123/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7332123</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32102521" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32102521</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Grana, B., Fachal, L., Darder, E.
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et al. (2011) Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. Breast Cancer Research and Treatment
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128(2): 573–579
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[<a href="https://pubmed.ncbi.nlm.nih.gov/21445571" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21445571</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Gronwald, J, Huzarski, T, Byrski, T
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et al. (2006) Direct-to-patient BRCA1 testing: the Twoj Styl experience. Breast cancer research and treatment
|
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100(3): 239–45
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[<a href="https://pubmed.ncbi.nlm.nih.gov/16807675" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16807675</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Hall, Michael J, Reid, Julia E, Burbidge, Lynn A
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|
et al. (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer
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|
115(10): 2222–33
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[<a href="/pmc/articles/PMC2771545/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2771545</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19241424" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19241424</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Hansen
|
|
TV, Ejlertsen
|
|
B, Albrechtsen
|
|
A
|
|
et al. (2009) A common Greenlandic Inuit BRCA1 RING domain founder mutation. Breast cancer research and treatment
|
|
115(1): 69–76
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/18500671" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18500671</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Hartge, P., Chatterjee, N., Wacholder, S.
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|
et al. (2002) Breast cancer risk in Ashkenazi BRCA1/2 mutation carriers: Effects of reproductive history. Epidemiology
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|
13(3): 255–261
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/11964925" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11964925</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Hedau, Suresh, Jain, Neeraj, Husain, Syed A
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|
et al. (2004) Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast cancer research and treatment
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88(2): 177–86
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[<a href="https://pubmed.ncbi.nlm.nih.gov/15564800" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15564800</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Heise, M., Jarzemski, P., Nowak, D.
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et al. (2022) Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men. Cancer Control
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29 [<a href="/pmc/articles/PMC9160909/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9160909</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35638715" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35638715</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Hilz, P., Heinrihsone, R., Patzold, L.A.
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et al. (2019) Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population. Hereditary Cancer in Clinical Practice
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17(1): 17
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[<a href="/pmc/articles/PMC6610821/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6610821</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31312277" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31312277</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Jakubowska, Anna, Cybulski, Cezary, Szymanska, Anna
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et al. (2008) BARD1 and breast cancer in Poland. Breast cancer research and treatment
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|
107(1): 119–22
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[<a href="https://pubmed.ncbi.nlm.nih.gov/17333333" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17333333</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Janezic, S A, Ziogas, A, Krumroy, L M
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et al. (1999) Germline BRCA1 alterations in a population-based series of ovarian cancer cases. Human molecular genetics
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8(5): 889–97
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[<a href="https://pubmed.ncbi.nlm.nih.gov/10196379" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10196379</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
John
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EM, Miron
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A, Gong
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G
|
|
et al. (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA
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298(24): 2869–2876
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[<a href="https://pubmed.ncbi.nlm.nih.gov/18159056" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18159056</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Kronn
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D, Oddoux
|
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C, Phillips
|
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J
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|
et al. (1995) Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. American journal of human genetics
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57(5): 1250–1252
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[<a href="/pmc/articles/PMC1801394/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1801394</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/7485179" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7485179</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Kurian, Allison W (2010) BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications. Current opinion in obstetrics & gynecology
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22(1): 72–8
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[<a href="https://pubmed.ncbi.nlm.nih.gov/19841585" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19841585</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Narrative review</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Laitman, Y., Nielsen, S.M., Hatchell, K.E.
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et al. (2022) Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant. Familial Cancer
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[<a href="https://pubmed.ncbi.nlm.nih.gov/34622392" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34622392</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Lang, Guan-Tian, Shi, Jin-Xiu, Hu, Xin
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et al. (2017) The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. International journal of cancer
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141(1): 129–142
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[<a href="https://pubmed.ncbi.nlm.nih.gov/28294317" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28294317</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Lawniczak, M., Jakubowska, A., Biaek, A.
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et al. (2015) Possible association of the BRCA2 gene C5972T variant with gastric cancer: A study on Polish population. Polskie Archiwum Medycyny Wewnetrznej
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125(12): 39–45
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[<a href="https://pubmed.ncbi.nlm.nih.gov/25533971" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25533971</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Li, Ang, Xie, Rong, Zhi, Qihuan
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|
et al. (2018) BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. Gynecologic oncology
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|
151(1): 145–152
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[<a href="https://pubmed.ncbi.nlm.nih.gov/30078507" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30078507</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Lieberman, S., Chen-Shtoyerman, R., Levi, Z.
|
|
et al. (2022) Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews. Breast Cancer Research and Treatment
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|
193(1): 217–224
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[<a href="https://pubmed.ncbi.nlm.nih.gov/35278150" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35278150</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Lieberman, Sari, Lahad, Amnon, Tomer, Ariela
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|
et al. (2017) Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience. Genetics in medicine: official journal of the American College of Medical Genetics
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|
19(6): 628–634
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/27906198" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27906198</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Liede, Alexander, Malik, Imtiaz A, Aziz, Zeba
|
|
et al. (2002) Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. American journal of human genetics
|
|
71(3): 595–606
|
|
[<a href="/pmc/articles/PMC379195/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC379195</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12181777" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12181777</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Liede, Alexander and Narod, Steven A (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Human mutation
|
|
20(6): 413–24
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12442265" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12442265</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Liu, Yin, Liao, Ji, Xu, Ye
|
|
et al. (2011) A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. Human mutation
|
|
32(9): 1000–3
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/21618645" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21618645</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Lu, K H, Cramer, D W, Muto, M G
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|
et al. (1999) A population-based study of BRCA1 and BRCA2 mutations in Jewish women with epithelial ovarian cancer. Obstetrics and gynecology
|
|
93(1): 34–7
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[<a href="https://pubmed.ncbi.nlm.nih.gov/9916952" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9916952</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Makriyianni
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I, Hamel
|
|
N, Ward
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S
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et al. (2005) BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder. Journal of medical genetics
|
|
42(5): e27
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|
[<a href="/pmc/articles/PMC1736052/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1736052</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15863659" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15863659</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Malone, K.E., Daling, J.R., Doody, D.R.
|
|
et al. (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in White and Black American women ages 35 to 64 years. Cancer Research
|
|
66(16): 8297–8308
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/16912212" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16912212</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Manchanda
|
|
R, Loggenberg
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|
K, Sanderson
|
|
S
|
|
et al. (2015) Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. Journal of the National Cancer Institute
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107(1): 379
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|
[<a href="/pmc/articles/PMC4301703/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4301703</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25435541" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25435541</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- A newer study by the same author included</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Manchanda, R. and Gaba, F. (2018) Population based testing for primary prevention: A systematic review. Cancers
|
|
10(11): 424
|
|
[<a href="/pmc/articles/PMC6266041/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6266041</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30400647" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30400647</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Systematic review used as source of primary studies</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Mehta, A., Diwan, H., Gupta, G.
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|
et al. (2022) Founder BRCA1 mutations in Nepalese population. Journal of Pathology and Translational Medicine
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|
56(4): 212–216
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[<a href="/pmc/articles/PMC9288895/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9288895</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35698740" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35698740</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Metcalfe, Kelly A, Mian, Nida, Enmore, Melissa
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|
et al. (2012) Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening. Breast cancer research and treatment
|
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133(2): 735–40
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[<a href="https://pubmed.ncbi.nlm.nih.gov/22240989" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22240989</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Miron, A., Schildkraut, J.M., Rimer, B.K.
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|
et al. (2000) Testing for hereditary breast and ovarian cancer in the southeastern United States. Annals of Surgery
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231(5): 624–634
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[<a href="/pmc/articles/PMC1421049/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1421049</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/10767783" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10767783</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Modan, B., Hartge, P., Hirsh-Yechezkel, G.
|
|
et al. (2001) Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. New England Journal of Medicine
|
|
345(4): 235–240
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/11474660" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11474660</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Modan, B, Gak, E, Sade-Bruchim, R B
|
|
et al. (1996) High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. National Israel Study of Ovarian Cancer. JAMA
|
|
276(22): 1823–5
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8946903" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8946903</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Mohamad, S., Isa, N.M., Muhammad, R.
|
|
et al. (2015) Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia. PLoS ONE
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|
10(1): e0117104
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|
[<a href="/pmc/articles/PMC4309602/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4309602</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25629968" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25629968</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Mullineaux, L.G., Castellano, T.M., Shaw, J.
|
|
et al. (2003) Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer
|
|
98(3): 597–602
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12879478" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12879478</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Muto, M.G., Cramer, D.W., Tangir, J.
|
|
et al. (1996) Frequency of the BRCA1 185delAG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Research
|
|
56(6): 1250–1252
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8640808" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8640808</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Newman, B., Mu, H., Butler, L.M.
|
|
et al. (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA
|
|
279(12): 915–921
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/9544765" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9544765</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Oddoux, C, Struewing, J P, Clayton, C M
|
|
et al. (1996) The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature genetics
|
|
14(2): 188–90
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/8841192" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8841192</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Offit, K., Gilad, S., Paglin, S.
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|
et al. (2002) Rare variants of ATM and risk for Hodgkin’s disease and radiation-associated breast cancers. Clinical Cancer Research
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|
8(12): 3813–3819
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/12473594" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12473594</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Offit, K., Pierce, H., Kirchhoff, T.
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|
et al. (2003) Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics
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4: 1
|
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[<a href="/pmc/articles/PMC149355/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC149355</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12529183" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12529183</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Ossa, C.A. and Torres, D. (2016) Founder and recurrent mutations in BRCA1 and BRCA2 genes in Latin American Countries: State of the art and literature review. Oncologist
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21(7): 832–839
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[<a href="/pmc/articles/PMC4943386/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4943386</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27286788" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27286788</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Narrative review</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Palmer, Julie R, Polley, Eric C, Hu, Chunling
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|
et al. (2020) Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. Journal of the National Cancer Institute
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112(12): 1213–1221
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[<a href="/pmc/articles/PMC7735769/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7735769</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32427313" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32427313</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Park, K.-S., Lee, W.-C., Seong, M.-W.
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et al. (2021) A population-based analysis of brca1/2 genes and associated breast and ovarian cancer risk in Korean patients: A multicenter cohort study. Cancers
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13(9): 2192
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[<a href="/pmc/articles/PMC8125125/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8125125</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34063308" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34063308</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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|
Phuah, Sze Yee, Lee, Sheau Yee, Kang, Peter
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|
et al. (2013) Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. PloS one
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|
8(8): e73638
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|
[<a href="/pmc/articles/PMC3748013/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3748013</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23977390" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23977390</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Pölsler
|
|
L, Fiegl
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|
H, Wimmer
|
|
K
|
|
et al. (2016) High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. European journal of human genetics: EJHG
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|
24(2): 258–262
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|
[<a href="/pmc/articles/PMC4717197/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4717197</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26014432" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26014432</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Ramus, S.J., Song, H., Dicks, E.
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|
et al. (2015) Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. Journal of the National Cancer Institute
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107(11) [<a href="/pmc/articles/PMC4643629/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4643629</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26315354" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26315354</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Raskin, L., Schwenter, F., Freytsis, M.
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|
et al. (2011) Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clinical Genetics
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79(6): 512–522
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[<a href="/pmc/articles/PMC4541773/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4541773</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21155762" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21155762</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Rebbeck, Timothy R, Friebel, Tara M, Friedman, Eitan
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et al. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human mutation
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39(5): 593–620
|
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[<a href="/pmc/articles/PMC5903938/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5903938</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29446198" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29446198</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Rivera-Herrera, A.-L., Cifuentes-C, L., Gil-Vera, J.A.
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et al. (2018) Absence of the CHEK2 c.1100delc mutation in familial breast and ovarian cancer in Colombia: A case-control study. F1000Research
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7: 1032
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</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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28(1): 226–235
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[<a href="/pmc/articles/PMC7796867/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7796867</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32888145" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32888145</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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149(1): 223–7
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[<a href="https://pubmed.ncbi.nlm.nih.gov/25476495" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25476495</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Salo-Mullen, E.E., Maio, A., Mukherjee, S.
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et al. (2021) Prevalence and characterization of biallelic and monoallelic nthl1 and msh3 variant carriers from a pan-cancer patient population. JCO Precision Oncology
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5: 455–465 [<a href="/pmc/articles/PMC8232072/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8232072</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34250384" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34250384</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/12473589" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12473589</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/26656232" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26656232</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/29452958" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29452958</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Narrative review</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/9362443" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9362443</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="/pmc/articles/PMC4554751/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4554751</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26261251" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26261251</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/9145676" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9145676</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Data not reported in an extractable format or a format that can be analysed</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/20862552" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20862552</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="/pmc/articles/PMC8406897/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8406897</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34461861" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34461861</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/17925560" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17925560</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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10(9): 955–60 [<a href="https://pubmed.ncbi.nlm.nih.gov/11535547" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11535547</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/10413426" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10413426</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="https://pubmed.ncbi.nlm.nih.gov/14555511" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14555511</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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13(12): 2078–2083 [<a href="https://pubmed.ncbi.nlm.nih.gov/15598764" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15598764</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Population in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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et al. (2015) Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in north western China. Genetics and molecular research: GMR
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[<a href="https://pubmed.ncbi.nlm.nih.gov/26535628" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26535628</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="/pmc/articles/PMC6647062/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6647062</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31331294" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31331294</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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[<a href="/pmc/articles/PMC3275522/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3275522</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22136435" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22136435</span></a>]
|
|
</td><td headers="hd_h_niceng241er8.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Study design does not match that specified in this review protocol</td></tr></tbody></table></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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