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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=78554
|
||
ConceptID=C0265326
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1488/bin/phts-Image001.gif" src-large="/books/NBK1488/bin/phts-Image001.jpg" /></a><br /><a href="/books/NBK1488/figure/phts.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1488/bin/phts-Image002.gif" src-large="/books/NBK1488/bin/phts-Image002.jpg" /></a><br /><a href="/books/NBK1488/figure/phts.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Bannayan-Riley-Ruvalcaba syndrome<span class="h1sub">(BRRS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78554</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.">C0265326</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>Bannayan-Zonana syndrome; BRRS; Macrocephaly multiple lipomas and hemangiomata; Macrocephaly pseudopapilledema and multiple hemangiomas; Riley-Smith syndrome; Ruvalcaba -Myhre-Smith syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bannayan syndrome (234138005); Bannayan-Zonana syndrome (234138005); Bannayan-Riley-Ruvalcaba syndrome (234138005); Macrocephaly with multiple lipomas and hemangiomas (234138005); Ruvalcaba Myhre Smith syndrome (234138005); Riley Smith syndrome (234138005)</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>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007924" target="_blank">MONDO:0007924</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=109">ORPHA109</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1488" target="_blank">PTEN Hamartoma Tumor Syndrome</a></div><div>The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [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/NBK1488#phts.Summary" target="NBK1488">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.GeneReview_Scope" target="NBK1488">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Diagnosis" target="NBK1488">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Clinical_Characteristics" target="NBK1488">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Genetically_Related_Allelic_Disorde" target="NBK1488">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Differential_Diagnosis" target="NBK1488">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Management" target="NBK1488">Management</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Genetic_Counseling" target="NBK1488">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Resources" target="NBK1488">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Molecular_Genetics" target="NBK1488">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.Chapter_Notes" target="NBK1488">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1488#phts.References" target="NBK1488">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lamis Yehia | Charis Eng <a href="/books/NBK1488" target="NBK1488" title="NCBI Bookshelf: PTEN Hamartoma Tumor Syndrome">view full author information</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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<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>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Blumenthal and Dennis (2008) provided a detailed review of PTEN-related tumor syndromes. <a target="_blank" href="http://www.omim.org/entry/153480">http://www.omim.org/entry/153480</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.<br /><br />At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age.<br /><br />About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition.<br /><br />Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, and seizures. Some affected individuals have thyroid problems, such as an enlargement of the thyroid gland, known as multinodular goiter, or a condition called Hashimoto thyroiditis. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum).<br /><br />The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. <a target="_blank" href="https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome">https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome</a></div></div>
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<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>
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<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="TLclosed"><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"><a href="/medgen/88399" ref="tree=GTR&ncbi_uid=88399&link_uid=88399" title="View MedGen record for 'Li-Fraumeni syndrome'">Li-Fraumeni 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=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/1826056" ref="tree=MeSH" title="MedGen record for Complex vascular malformation with associated anomalies">Complex vascular malformation with associated anomalies</a></span><ul><li><span class="matched_ds">Bannayan-Riley-Ruvalcaba syndrome</span></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=1473&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bannayan-Riley-Ruvalcaba syndrome</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35487791">Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boland CR,
|
||
Idos GE,
|
||
Durno C,
|
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Giardiello FM,
|
||
Anderson JC,
|
||
Burke CA,
|
||
Dominitz JA,
|
||
Gross S,
|
||
Gupta S,
|
||
Jacobson BC,
|
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Patel SG,
|
||
Shaukat A,
|
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Syngal S,
|
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Robertson DJ</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2022 Jun;162(7):2063-2085.
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Epub 2022 Apr 26
|
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doi: 10.1053/j.gastro.2022.02.021.
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<span class="bold">PMID: </span><a href="/pubmed/35487791" target="_blank">35487791</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35487765">Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boland CR,
|
||
Idos GE,
|
||
Durno C,
|
||
Giardiello FM,
|
||
Anderson JC,
|
||
Burke CA,
|
||
Dominitz JA,
|
||
Gross S,
|
||
Gupta S,
|
||
Jacobson BC,
|
||
Patel SG,
|
||
Shaukat A,
|
||
Syngal S,
|
||
Robertson DJ</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2022 Jun;95(6):1025-1047.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1016/j.gie.2022.02.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35487765" target="_blank">35487765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35471415">Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boland CR,
|
||
Idos GE,
|
||
Durno C,
|
||
Giardiello FM,
|
||
Anderson JC,
|
||
Burke CA,
|
||
Dominitz JA,
|
||
Gross S,
|
||
Gupta S,
|
||
Jacobson BC,
|
||
Patel SG,
|
||
Shaukat A,
|
||
Syngal S,
|
||
Robertson DJ</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2022 Jun 1;117(6):846-864.
|
||
Epub 2022 Apr 26
|
||
doi: 10.14309/ajg.0000000000001755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35471415" target="_blank">35471415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bannayan-riley-ruvalcaba%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 (6)</a></div></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_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/31433956">The Clinical Spectrum of PTEN Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yehia L,
|
||
Keel E,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2020 Jan 27;71:103-116.
|
||
Epub 2019 Aug 21
|
||
doi: 10.1146/annurev-med-052218-125823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31433956" target="_blank">31433956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29684080">Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yehia L,
|
||
Ni Y,
|
||
Sesock K,
|
||
Niazi F,
|
||
Fletcher B,
|
||
Chen HJL,
|
||
LaFramboise T,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2018 Apr;14(4):e1007352.
|
||
Epub 2018 Apr 23
|
||
doi: 10.1371/journal.pgen.1007352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29684080" target="_blank">29684080</a><a href="/pmc/articles/PMC5933810" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28677221">Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HJ,
|
||
Romigh T,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 Oct;38(10):1372-1377.
|
||
Epub 2017 Jul 17
|
||
doi: 10.1002/humu.23288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28677221" target="_blank">28677221</a><a href="/pmc/articles/PMC5599331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21194675">A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan MH,
|
||
Mester J,
|
||
Peterson C,
|
||
Yang Y,
|
||
Chen JL,
|
||
Rybicki LA,
|
||
Milas K,
|
||
Pederson H,
|
||
Remzi B,
|
||
Orloff MS,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Jan 7;88(1):42-56.
|
||
Epub 2010 Dec 30
|
||
doi: 10.1016/j.ajhg.2010.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21194675" target="_blank">21194675</a><a href="/pmc/articles/PMC3014373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17920899">Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gustafson S,
|
||
Zbuk KM,
|
||
Scacheri C,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2007 Oct;34(5):428-34.
|
||
doi: 10.1053/j.seminoncol.2007.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17920899" target="_blank">17920899</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (56)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39256443">A systematic review of Bannayan - Riley - Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapačinskaitė M,
|
||
Stratica N,
|
||
Adomaitienė I,
|
||
Rascon J,
|
||
Vaišnytė B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Sep 10;14(1):21119.
|
||
doi: 10.1038/s41598-024-71991-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39256443" target="_blank">39256443</a><a href="/pmc/articles/PMC11387762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31433956">The Clinical Spectrum of PTEN Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yehia L,
|
||
Keel E,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2020 Jan 27;71:103-116.
|
||
Epub 2019 Aug 21
|
||
doi: 10.1146/annurev-med-052218-125823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31433956" target="_blank">31433956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28677221">Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HJ,
|
||
Romigh T,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 Oct;38(10):1372-1377.
|
||
Epub 2017 Jul 17
|
||
doi: 10.1002/humu.23288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28677221" target="_blank">28677221</a><a href="/pmc/articles/PMC5599331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26228616">A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iskandarli M,
|
||
Yaman B,
|
||
Aslan A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2016 Sep;55(9):1040-3.
|
||
Epub 2015 Jul 30
|
||
doi: 10.1111/ijd.13013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26228616" target="_blank">26228616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23783019">Bannayan-Riley-Ruvalcaba syndrome: an uncommon case of hematochezia in a 3-year-old boy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poropat F,
|
||
Maschio M,
|
||
Martelossi S,
|
||
Ventura A,
|
||
Taddio A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2015 Jun;60(6):e48.
|
||
doi: 10.1097/MPG.0b013e31829ef86f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23783019" target="_blank">23783019</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (75)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36082652">Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Şahin GE,
|
||
Hoşnut FÖ,
|
||
Yeşil Ş,
|
||
Lafcı NG,
|
||
Gül AE,
|
||
Şahin G</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2022;64(4):766-774.
|
||
doi: 10.24953/turkjped.2021.5330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36082652" target="_blank">36082652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31124053">Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bevacqua M,
|
||
Baldo F,
|
||
Pastore S,
|
||
Valencic E,
|
||
Tommasini A,
|
||
Maestro A,
|
||
Rabusin M,
|
||
Arbo A,
|
||
Barbi E</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2019 Jun;21(3):185-193.
|
||
doi: 10.1007/s40272-019-00337-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31124053" target="_blank">31124053</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23662932">Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moon K,
|
||
Ducruet AF,
|
||
Crowley RW,
|
||
Klas K,
|
||
Bristol R,
|
||
Albuquerque FC</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2013 Jul;12(1):87-92.
|
||
Epub 2013 May 10
|
||
doi: 10.3171/2013.3.PEDS12551.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23662932" target="_blank">23662932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10599735">Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faisal Ahmed S,
|
||
Marsh DJ,
|
||
Weremowicz S,
|
||
Morton CC,
|
||
Williams DM,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1999 Dec;84(12):4665-70.
|
||
doi: 10.1210/jcem.84.12.6178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10599735" target="_blank">10599735</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39256443">A systematic review of Bannayan - Riley - Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapačinskaitė M,
|
||
Stratica N,
|
||
Adomaitienė I,
|
||
Rascon J,
|
||
Vaišnytė B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Sep 10;14(1):21119.
|
||
doi: 10.1038/s41598-024-71991-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39256443" target="_blank">39256443</a><a href="/pmc/articles/PMC11387762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31433956">The Clinical Spectrum of PTEN Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yehia L,
|
||
Keel E,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2020 Jan 27;71:103-116.
|
||
Epub 2019 Aug 21
|
||
doi: 10.1146/annurev-med-052218-125823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31433956" target="_blank">31433956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26700035">Breast cancer risk and clinical implications for germline PTEN mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ngeow J,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Breast Cancer Res Treat</span>
|
||
2017 Aug;165(1):1-8.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1007/s10549-015-3665-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26700035" target="_blank">26700035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21194675">A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan MH,
|
||
Mester J,
|
||
Peterson C,
|
||
Yang Y,
|
||
Chen JL,
|
||
Rybicki LA,
|
||
Milas K,
|
||
Pederson H,
|
||
Remzi B,
|
||
Orloff MS,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Jan 7;88(1):42-56.
|
||
Epub 2010 Dec 30
|
||
doi: 10.1016/j.ajhg.2010.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21194675" target="_blank">21194675</a><a href="/pmc/articles/PMC3014373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10640930">An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perriard J,
|
||
Saurat JH,
|
||
Harms M</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2000 Feb;42(2 Pt 2):348-50.
|
||
doi: 10.1016/s0190-9622(00)90109-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10640930" target="_blank">10640930</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29444762">Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghusayni R,
|
||
Sachdev M,
|
||
Gallentine W,
|
||
Mikati MA,
|
||
McDonald MT</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2018 Feb 1;20(1):30-34.
|
||
doi: 10.1684/epd.2018.0954.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29444762" target="_blank">29444762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28677221">Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HJ,
|
||
Romigh T,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 Oct;38(10):1372-1377.
|
||
Epub 2017 Jul 17
|
||
doi: 10.1002/humu.23288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28677221" target="_blank">28677221</a><a href="/pmc/articles/PMC5599331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26700035">Breast cancer risk and clinical implications for germline PTEN mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ngeow J,
|
||
Sesock K,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Breast Cancer Res Treat</span>
|
||
2017 Aug;165(1):1-8.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1007/s10549-015-3665-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26700035" target="_blank">26700035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21194675">A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan MH,
|
||
Mester J,
|
||
Peterson C,
|
||
Yang Y,
|
||
Chen JL,
|
||
Rybicki LA,
|
||
Milas K,
|
||
Pederson H,
|
||
Remzi B,
|
||
Orloff MS,
|
||
Eng C</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Jan 7;88(1):42-56.
|
||
Epub 2010 Dec 30
|
||
doi: 10.1016/j.ajhg.2010.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21194675" target="_blank">21194675</a><a href="/pmc/articles/PMC3014373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17526800">Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lachlan KL,
|
||
Lucassen AM,
|
||
Bunyan D,
|
||
Temple IK</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2007 Sep;44(9):579-85.
|
||
Epub 2007 May 25
|
||
doi: 10.1136/jmg.2007.049981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17526800" target="_blank">17526800</a><a href="/pmc/articles/PMC2597943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (23)</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/39256443">A systematic review of Bannayan - Riley - Ruvalcaba syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapačinskaitė M,
|
||
Stratica N,
|
||
Adomaitienė I,
|
||
Rascon J,
|
||
Vaišnytė B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Sep 10;14(1):21119.
|
||
doi: 10.1038/s41598-024-71991-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39256443" target="_blank">39256443</a><a href="/pmc/articles/PMC11387762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24587660">Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanich PP,
|
||
Pilarski R,
|
||
Rock J,
|
||
Frankel WL,
|
||
El-Dika S,
|
||
Meyer MM</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Feb 21;20(7):1833-8.
|
||
doi: 10.3748/wjg.v20.i7.1833.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24587660" target="_blank">24587660</a><a href="/pmc/articles/PMC3930981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bannayan-Riley-Ruvalcaba%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 (2)</a></div></div>
|
||
</div>
|
||
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|
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|
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|
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<div class=" bottom">
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|
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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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 id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C0265326%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (88)</a></li>
|
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<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
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<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (84)</a></li>
|
||
<li><a href="/gtr/tests?term=C0265326%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265326%5bDISCUI%5d" target="_blank">See all (102)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=109" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Bannayan-Riley-Ruvalcaba%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22bannayan-riley-ruvalcaba%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(%22Bannayan-Riley-Ruvalcaba%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></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Bannayan-Riley-Ruvalcaba+Syndrome/716" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Bannayan-Riley-Ruvalcaba%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5887/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/20301661" 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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<a href="/pubmed/clinical?term=Bannayan-Riley-Ruvalcaba%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Bannayan-Riley-Ruvalcaba%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265326[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0265326[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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