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<meta name="keywords" content="C0085390, disease or syndrome, lfs, lfs1, lfs3, li fraumeni syndrome, li-fraumeni familial cancer susceptibility syndrome, li-fraumeni familiar cancer susceptibility syndrome, li-fraumeni syndrome, li-fraumeni syndrome caused by mutation in tp53, li-fraumeni syndrome, tp53-associated, li-fraumeni-like syndrome, sarcoma family syndrome of 51 and fraumeni, sarcoma family syndrome of li and fraumeni, sarcoma, breast, leukaemia and adrenal gland syndrome, sarcoma, breast, leukemia and adrenal gland syndrome, sbla syndrome, sbla syndrome (sarcoma, breast, leukemia, and adrenal gland), tp53, tp53 li-fraumeni syndrome, tp53-associated li-fraumeni syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. Other cancers associated with LFS include leukemia, colorectal cancer, stomach cancer, lung cancer, melanoma, pediatric head and neck cancers, pancreatic cancer, and prostate cancer. Cancer survivors are at increased risk for developing additional primary cancers and treatment-related secondary cancers. The lifetime risks of cancer for women and men with classic LFS are 90% and 70%, respectively, and 50% of cancers occur prior to age 40 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=88399
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ConceptID=C0085390
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Li-Fraumeni syndrome<span class="h1sub">(LFS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085390</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LFS; Sarcoma family syndrome of Li and Fraumeni</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Li-Fraumeni syndrome (428850001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TP53 - ID: 7157 - NCBI Gene" href="/gene/7157" class="medgenPMinfo">TP53</a> (17p13.1)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/11200">CHEK2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018875" target="_blank">MONDO:0018875</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/151623" target="_blank">151623</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS151623" target="_blank">PS151623</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=524">ORPHA524</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1311" target="_blank">Li-Fraumeni Syndrome</a></div><div>Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. Other cancers associated with LFS include leukemia, colorectal cancer, stomach cancer, lung cancer, melanoma, pediatric head and neck cancers, pancreatic cancer, and prostate cancer. Cancer survivors are at increased risk for developing additional primary cancers and treatment-related secondary cancers. The lifetime risks of cancer for women and men with classic LFS are 90% and 70%, respectively, and 50% of cancers occur prior to age 40 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Summary" target="NBK1311">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Diagnosis" target="NBK1311">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Clinical_Characteristics" target="NBK1311">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Genetically_Related_Allelic" target="NBK1311">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Differential_Diagnosis" target="NBK1311">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Management" target="NBK1311">Management</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Genetic_Counseling" target="NBK1311">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Resources" target="NBK1311">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Molecular_Genetics" target="NBK1311">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.Chapter_Notes" target="NBK1311">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1311#li-fraumeni.References" target="NBK1311">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Katherine Schneider | Kristin Zelley | Kim E Nichols<i>, et. al.</i> <a href="/books/NBK1311" target="NBK1311" title="NCBI Bookshelf: Li-Fraumeni Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age (Li et al., 1988). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years (Birch et al., 1994). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age (Eeles, 1995). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 (Bachinski et al., 2005). <a target="_blank" href="http://www.omim.org/entry/151623">http://www.omim.org/entry/151623</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.<br /><br />A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.<br /><br />The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome">https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Clinical" ref="ncbi_uid=264172">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=264172">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=264172" ref="ncbi_uid=264172">V</a></span></span><span class="TLline"><a href="/medgen/264172" ref="tree=GTR&ncbi_uid=264172&link_uid=264172" title="View MedGen record for 'Breast neoplasm'">Breast neoplasm</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0858252[DISCUI]&test_type=Clinical" ref="ncbi_uid=167809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=167809" ref="ncbi_uid=167809">V</a></span></span><span class="TLline"><a href="/medgen/167809" ref="tree=GTR&ncbi_uid=167809&link_uid=167809" title="View MedGen record for 'Breast adenocarcinoma'">Breast adenocarcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0006142[DISCUI]&test_type=Clinical" ref="ncbi_uid=651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=651" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=651" ref="ncbi_uid=651">V</a></span></span><span class="TLline"><a href="/medgen/651" ref="tree=GTR&ncbi_uid=651&link_uid=651" title="View MedGen record for 'Malignant tumor of breast'">Malignant tumor of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346153[DISCUI]&test_type=Clinical" ref="ncbi_uid=87542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87542" target="_blank" href="/omim/114480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=87542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87542" ref="ncbi_uid=87542">V</a></span></span><span class="TLline"><a href="/medgen/87542" ref="tree=GTR&ncbi_uid=87542&link_uid=87542" title="View MedGen record for 'Familial cancer of breast'">Familial cancer of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004135[DISCUI]&test_type=Clinical" ref="ncbi_uid=439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=439" target="_blank" href="/omim/208900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK26468)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=439">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=439" ref="ncbi_uid=439">V</a></span></span><span class="TLline"><a href="/medgen/439" ref="tree=GTR&ncbi_uid=439&link_uid=439" title="View MedGen record for 'Ataxia-telangiectasia syndrome'">Ataxia-telangiectasia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Clinical" ref="ncbi_uid=865388">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=865388">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=865388" target="_blank" href="/omim/605882">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=865388" ref="ncbi_uid=865388">V</a></span></span><span class="TLline"><a href="/medgen/865388" ref="tree=GTR&ncbi_uid=865388&link_uid=865388" title="View MedGen record for 'Breast cancer, early-onset'">Breast cancer, early-onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Clinical" ref="ncbi_uid=350535">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=350535">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350535" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350535" ref="tree=GTR&ncbi_uid=350535&link_uid=350535" title="View MedGen record for 'Breast cancer, familial male'">Breast cancer, familial male</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Clinical" ref="ncbi_uid=854012">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=854012">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854012" target="_blank" href="/omim/176705">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854012" ref="ncbi_uid=854012">V</a></span></span><span class="TLline"><a href="/medgen/854012" ref="tree=GTR&ncbi_uid=854012&link_uid=854012" title="View MedGen record for 'Breast cancer, susceptibility to'">Breast cancer, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836860[DISCUI]&test_type=Clinical" ref="ncbi_uid=323015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323015" target="_blank" href="/omim/605882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323015" ref="ncbi_uid=323015">V</a></span></span><span class="TLline"><a href="/medgen/323015" ref="tree=GTR&ncbi_uid=323015&link_uid=323015" title="View MedGen record for 'Fanconi anemia complementation group J'">Fanconi anemia complementation group J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835817[DISCUI]&test_type=Clinical" ref="ncbi_uid=372133">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372133" target="_blank" href="/omim/610355">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=372133">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372133" ref="ncbi_uid=372133">V</a></span></span><span class="TLline"><a href="/medgen/372133" ref="tree=GTR&ncbi_uid=372133&link_uid=372133" title="View MedGen record for 'Fanconi anemia complementation group N'">Fanconi anemia complementation group N</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0677776[DISCUI]&test_type=Clinical" ref="ncbi_uid=151793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=151793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151793" ref="ncbi_uid=151793">V</a></span></span><span class="TLline"><a href="/medgen/151793" ref="tree=GTR&ncbi_uid=151793&link_uid=151793" title="View MedGen record for 'Hereditary breast ovarian cancer syndrome'">Hereditary breast ovarian cancer syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085390[DISCUI]&test_type=Clinical" ref="ncbi_uid=88399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88399" target="_blank" href="/omim/151623">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1311/" ref="ncbi_uid=88399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88399" ref="ncbi_uid=88399">V</a></span></span><span class="TLline">Li-Fraumeni syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031269[DISCUI]&test_type=Clinical" ref="ncbi_uid=18404">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18404" target="_blank" href="/omim/175200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1266/" ref="ncbi_uid=18404">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18404" ref="ncbi_uid=18404">V</a></span></span><span class="TLline"><a href="/medgen/18404" ref="tree=GTR&ncbi_uid=18404&link_uid=18404" title="View MedGen record for 'Peutz-Jeghers syndrome'">Peutz-Jeghers syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1959582[DISCUI]&test_type=Clinical" ref="ncbi_uid=368366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=368366" target="_blank" href="/omim/158350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1488/" ref="ncbi_uid=368366">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=368366" ref="ncbi_uid=368366">V</a></span></span><span class="TLline"><a href="/medgen/368366" ref="tree=GTR&ncbi_uid=368366&link_uid=368366" title="View MedGen record for 'PTEN hamartoma tumor syndrome'">PTEN hamartoma tumor syndrome</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842530" ref="tree=MeSH" title="MedGen record for Disease with Cushing syndrome as a major feature">Disease with Cushing syndrome as a major feature</a></span><ul><li><span class="matched_ds">Li-Fraumeni syndrome</span><ul><li><span class="TLline"><a href="/medgen/322930" ref="tree=MeSH" title="MedGen record for CHEK2-Associated Li-Fraumeni-Like Syndrome">CHEK2-Associated Li-Fraumeni-Like Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322656" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 1">Li-Fraumeni syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1849727" ref="tree=MeSH" title="MedGen record for Li-Fraumeni syndrome 2">Li-Fraumeni syndrome 2</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=196&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Li-Fraumeni syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37856201">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Maxwell KN,
|
||
Churpek J,
|
||
Kohlmann W,
|
||
AlHilli Z,
|
||
Arun B,
|
||
Buys SS,
|
||
Cheng H,
|
||
Domchek SM,
|
||
Friedman S,
|
||
Giri V,
|
||
Goggins M,
|
||
Hagemann A,
|
||
Hendrix A,
|
||
Hutton ML,
|
||
Karlan BY,
|
||
Kassem N,
|
||
Khan S,
|
||
Khoury K,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Mak JS,
|
||
Mansour J,
|
||
McDonnell K,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Rash D,
|
||
Reiser G,
|
||
Senter-Jamieson L,
|
||
Shannon KM,
|
||
Visvanathan K,
|
||
Welborn J,
|
||
Wick MJ,
|
||
Wood M,
|
||
Yurgelun MB,
|
||
Dwyer MA,
|
||
Darlow SD</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2023 Oct;21(10):1000-1010.
|
||
doi: 10.6004/jnccn.2023.0051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856201" target="_blank">37856201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768460">Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rebuzzi F,
|
||
Ulivi P,
|
||
Tedaldi G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 21;24(3)
|
||
doi: 10.3390/ijms24032137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768460" target="_blank">36768460</a><a href="/pmc/articles/PMC9916931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22li-fraumeni%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (67)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg164" target="_blank">UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389210">Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389210" target="_blank">26389210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35272929">Cancer genetics and breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber-Keener KJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2022 Jun;82:3-11.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1016/j.bpobgyn.2022.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35272929" target="_blank">35272929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33926690">Imaging of Tumor Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batchala PP,
|
||
Eluvathingal Muttikkal TJ,
|
||
Mukherjee S</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
2021 May;59(3):471-500.
|
||
doi: 10.1016/j.rcl.2021.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33926690" target="_blank">33926690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32457520">Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frebourg T,
|
||
Bajalica Lagercrantz S,
|
||
Oliveira C,
|
||
Magenheim R,
|
||
Evans DG;
|
||
European Reference Network GENTURIS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2020 Oct;28(10):1379-1386.
|
||
Epub 2020 May 26
|
||
doi: 10.1038/s41431-020-0638-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32457520" target="_blank">32457520</a><a href="/pmc/articles/PMC7609280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30709875">Hematologic malignancies and Li-Fraumeni syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swaminathan M,
|
||
Bannon SA,
|
||
Routbort M,
|
||
Naqvi K,
|
||
Kadia TM,
|
||
Takahashi K,
|
||
Alvarado Y,
|
||
Ravandi-Kashani F,
|
||
Patel KP,
|
||
Champlin R,
|
||
Kantarjian H,
|
||
Strong L,
|
||
DiNardo CD</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2019 Feb;5(1)
|
||
Epub 2019 Feb 1
|
||
doi: 10.1101/mcs.a003210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30709875" target="_blank">30709875</a><a href="/pmc/articles/PMC6371746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (596)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36387865">Pediatric adrenocortical carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilanchezhian M,
|
||
Varghese DG,
|
||
Glod JW,
|
||
Reilly KM,
|
||
Widemann BC,
|
||
Pommier Y,
|
||
Kaplan RN,
|
||
Del Rivero J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:961650.
|
||
Epub 2022 Oct 31
|
||
doi: 10.3389/fendo.2022.961650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36387865" target="_blank">36387865</a><a href="/pmc/articles/PMC9659577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30709875">Hematologic malignancies and Li-Fraumeni syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swaminathan M,
|
||
Bannon SA,
|
||
Routbort M,
|
||
Naqvi K,
|
||
Kadia TM,
|
||
Takahashi K,
|
||
Alvarado Y,
|
||
Ravandi-Kashani F,
|
||
Patel KP,
|
||
Champlin R,
|
||
Kantarjian H,
|
||
Strong L,
|
||
DiNardo CD</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2019 Feb;5(1)
|
||
Epub 2019 Feb 1
|
||
doi: 10.1101/mcs.a003210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30709875" target="_blank">30709875</a><a href="/pmc/articles/PMC6371746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30709544">Li Fraumeni syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz Gómez F,
|
||
de Miguel Ibañez R,
|
||
Moreno Serrano A,
|
||
Pérez Dominguez T,
|
||
Palomo Sánchez JC</span><br />
|
||
<span class="medgenPMjournal">Cir Esp (Engl Ed)</span>
|
||
2019 Dec;97(10):600-602.
|
||
Epub 2019 Jan 29
|
||
doi: 10.1016/j.ciresp.2018.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30709544" target="_blank">30709544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7863100">Li-Fraumeni syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponz de Leon M</span><br />
|
||
<span class="medgenPMjournal">Recent Results Cancer Res</span>
|
||
1994;136:275-86.
|
||
doi: 10.1007/978-3-642-85076-9_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7863100" target="_blank">7863100</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (589)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39026485">Adrenal cortical carcinoma: Paediatric aspects - literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dasiewicz P,
|
||
Moszczyńska E,
|
||
Grajkowska W</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Diabetes Metab</span>
|
||
2024;30(2):81-90.
|
||
doi: 10.5114/pedm.2024.139271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39026485" target="_blank">39026485</a><a href="/pmc/articles/PMC11249794" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36387865">Pediatric adrenocortical carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ilanchezhian M,
|
||
Varghese DG,
|
||
Glod JW,
|
||
Reilly KM,
|
||
Widemann BC,
|
||
Pommier Y,
|
||
Kaplan RN,
|
||
Del Rivero J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:961650.
|
||
Epub 2022 Oct 31
|
||
doi: 10.3389/fendo.2022.961650.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36387865" target="_blank">36387865</a><a href="/pmc/articles/PMC9659577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34281219">The Enigmatic Role of TP53 in Germ Cell Tumours: Are We Missing Something?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ottaviano M,
|
||
Giunta EF,
|
||
Rescigno P,
|
||
Pereira Mestre R,
|
||
Marandino L,
|
||
Tortora M,
|
||
Riccio V,
|
||
Parola S,
|
||
Casula M,
|
||
Paliogiannis P,
|
||
Cossu A,
|
||
Vogl UM,
|
||
Bosso D,
|
||
Rosanova M,
|
||
Mazzola B,
|
||
Daniele B,
|
||
Palmieri G,
|
||
Palmieri G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Jul 2;22(13)
|
||
doi: 10.3390/ijms22137160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34281219" target="_blank">34281219</a><a href="/pmc/articles/PMC8267694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26970132">Hereditary cancer syndromes as model systems for chemopreventive agent development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walcott FL,
|
||
Patel J,
|
||
Lubet R,
|
||
Rodriguez L,
|
||
Calzone KA</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2016 Feb;43(1):134-145.
|
||
Epub 2015 Sep 7
|
||
doi: 10.1053/j.seminoncol.2015.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26970132" target="_blank">26970132</a><a href="/pmc/articles/PMC10433689" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17379929">Adrenocortical carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Ditzhuijsen CI,
|
||
van de Weijer R,
|
||
Haak HR</span><br />
|
||
<span class="medgenPMjournal">Neth J Med</span>
|
||
2007 Feb;65(2):55-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17379929" target="_blank">17379929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (113)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36387865">Pediatric adrenocortical carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ilanchezhian M,
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Varghese DG,
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Reilly KM,
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Kaplan RN,
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Del Rivero J</span><br />
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2022;13:961650.
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<span class="bold">PMID: </span><a href="/pubmed/36387865" target="_blank">36387865</a><a href="/pmc/articles/PMC9659577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/32457520">Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Frebourg T,
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Bajalica Lagercrantz S,
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Oliveira C,
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Magenheim R,
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Evans DG;
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<span class="bold">PMID: </span><a href="/pubmed/32457520" target="_blank">32457520</a><a href="/pmc/articles/PMC7609280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28270529">Inherited TP53 Mutations and the Li-Fraumeni Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guha T,
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Malkin D</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
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|
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<div class="nl"><a target="_blank" href="/pubmed/24842956">The epidemiology of glioma in adults: a "state of the science" review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ostrom QT,
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Bauchet L,
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Davis FG,
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Deltour I,
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Fisher JL,
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Langer CE,
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Pekmezci M,
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<span class="medgenPMjournal">Neuro Oncol</span>
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2014 Jul;16(7):896-913.
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doi: 10.1093/neuonc/nou087.
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<span class="bold">PMID: </span><a href="/pubmed/24842956" target="_blank">24842956</a><a href="/pmc/articles/PMC4057143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20182602">TP53 mutations in human cancers: origins, consequences, and clinical use.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olivier M,
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Hollstein M,
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Hainaut P</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Perspect Biol</span>
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2010 Jan;2(1):a001008.
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<span class="bold">PMID: </span><a href="/pubmed/20182602" target="_blank">20182602</a><a href="/pmc/articles/PMC2827900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (277)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35988963">Familial and hereditary gastric cancer, an overview.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carneiro F</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
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2022 Jun-Aug;58-59:101800.
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doi: 10.1016/j.bpg.2022.101800.
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<span class="bold">PMID: </span><a href="/pubmed/35988963" target="_blank">35988963</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32457520">Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frebourg T,
|
||
Bajalica Lagercrantz S,
|
||
Oliveira C,
|
||
Magenheim R,
|
||
Evans DG;
|
||
European Reference Network GENTURIS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2020 Oct;28(10):1379-1386.
|
||
Epub 2020 May 26
|
||
doi: 10.1038/s41431-020-0638-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32457520" target="_blank">32457520</a><a href="/pmc/articles/PMC7609280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28270529">Inherited TP53 Mutations and the Li-Fraumeni Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guha T,
|
||
Malkin D</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
|
||
2017 Apr 3;7(4)
|
||
doi: 10.1101/cshperspect.a026187.
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||
<span class="bold">PMID: </span><a href="/pubmed/28270529" target="_blank">28270529</a><a href="/pmc/articles/PMC5378014" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26014290">Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bougeard G,
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Renaux-Petel M,
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Flaman JM,
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Charbonnier C,
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Fermey P,
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Belotti M,
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Gauthier-Villars M,
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Stoppa-Lyonnet D,
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Consolino E,
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Brugières L,
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Caron O,
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Benusiglio PR,
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Bressac-de Paillerets B,
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Bonadona V,
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Bonaïti-Pellié C,
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Tinat J,
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Baert-Desurmont S,
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Frebourg T</span><br />
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<span class="medgenPMjournal">J Clin Oncol</span>
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2015 Jul 20;33(21):2345-52.
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Epub 2015 May 26
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doi: 10.1200/JCO.2014.59.5728.
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||
<span class="bold">PMID: </span><a href="/pubmed/26014290" target="_blank">26014290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20182602">TP53 mutations in human cancers: origins, consequences, and clinical use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olivier M,
|
||
Hollstein M,
|
||
Hainaut P</span><br />
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||
<span class="medgenPMjournal">Cold Spring Harb Perspect Biol</span>
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||
2010 Jan;2(1):a001008.
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||
doi: 10.1101/cshperspect.a001008.
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||
<span class="bold">PMID: </span><a href="/pubmed/20182602" target="_blank">20182602</a><a href="/pmc/articles/PMC2827900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (316)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39984867">Bone tumors: a systematic review of prevalence, risk determinants, and survival patterns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseini H,
|
||
Heydari S,
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||
Hushmandi K,
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||
Daneshi S,
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||
Raesi R</span><br />
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<span class="medgenPMjournal">BMC Cancer</span>
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||
2025 Feb 21;25(1):321.
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||
doi: 10.1186/s12885-025-13720-0.
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||
<span class="bold">PMID: </span><a href="/pubmed/39984867" target="_blank">39984867</a><a href="/pmc/articles/PMC11846205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39075300">Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dacoregio MI,
|
||
Abrahão Reis PC,
|
||
Gonçalves Celso DS,
|
||
Romero LE,
|
||
Altmayer S,
|
||
Vilbert M,
|
||
Moraes FY,
|
||
Gomy I</span><br />
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||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
2025 Feb;35(2):643-651.
|
||
Epub 2024 Jul 29
|
||
doi: 10.1007/s00330-024-10983-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39075300" target="_blank">39075300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34478609">In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo Piccolo L,
|
||
Jantrapirom S,
|
||
Moonmuang S,
|
||
Teeyakasem P,
|
||
Pasena A,
|
||
Suksakit P,
|
||
Charoenkwan P,
|
||
Pruksakorn D,
|
||
Koonrungsesomboon N</span><br />
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||
<span class="medgenPMjournal">Trop Med Int Health</span>
|
||
2021 Nov;26(11):1401-1410.
|
||
Epub 2021 Oct 4
|
||
doi: 10.1111/tmi.13673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34478609" target="_blank">34478609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30191952">Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warby M,
|
||
Wakefield CE,
|
||
Vetsch J,
|
||
Tucker KM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Jan;95(1):140-150.
|
||
Epub 2018 Oct 10
|
||
doi: 10.1111/cge.13442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30191952" target="_blank">30191952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30004834">A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forbes Shepherd R,
|
||
Lewis A,
|
||
Keogh LA,
|
||
Werner-Lin A,
|
||
Delatycki MB,
|
||
Forrest LE</span><br />
|
||
<span class="medgenPMjournal">J Adolesc Young Adult Oncol</span>
|
||
2018 Oct;7(5):525-545.
|
||
Epub 2018 Jul 13
|
||
doi: 10.1089/jayao.2018.0028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30004834" target="_blank">30004834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Li-Fraumeni%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
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|
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0085390%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (75)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085390%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085390%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085390%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (101)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085390%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0085390%5bDISCUI%5d" target="_blank">See all (106)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS151623" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=524" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Li-Fraumeni%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22li-fraumeni%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Li-Fraumeni%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/cg164">NICE, 2023</a><div>UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023</div></li></ul></div>
|
||
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||
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||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=191170" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7157[geneid]" target="_blank">View TP53 variations in ClinVar</a></li><li><a href="/nuccore/293651587" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/li_fraumeni_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Li-Fraumeni%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6902/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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|
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<a href="/pubmed/20301488" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
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|
||
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|
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|
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|
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<a href="/pubmed?term=Li-Fraumeni%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
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|
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||
<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=88399" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=88399" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d30155cde49f3df7347314">Li-Fraumeni syndrome</a>
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