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<meta name="keywords" content="C4554406, brca1, disease or syndrome, fanconi anemia, complementation group s, fancs, 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="Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Fanconi anemia, complementation group S (Concept Id: C4554406)
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<!--
UID=1632414
ConceptID=C4554406
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fanconi anemia, complementation group S<span class="h1sub">(FANCS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632414</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)&#10;Click for more information."><span class="highlight" style="background-color:">C4554406</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>FANCS</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="BRCA1 - ID: 672 - NCBI Gene" href="/gene/672" class="medgenPMinfo">BRCA1</a> (17q21.31)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0054748" target="_blank">MONDO:0054748</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/617883" target="_blank">617883</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/NBK1401" target="_blank">Fanconi Anemia</a></div><div>Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [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/NBK1401#fa.Summary" target="NBK1401">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Diagnosis" target="NBK1401">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Clinical_Characteristics" target="NBK1401">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Genetically_Related_Allelic_Disorders" target="NBK1401">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Differential_Diagnosis" target="NBK1401">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Management" target="NBK1401">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Genetic_Counseling" target="NBK1401">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Resources" target="NBK1401">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Molecular_Genetics" target="NBK1401">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.Chapter_Notes" target="NBK1401">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1401#fa.References" target="NBK1401">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Parinda A Mehta  |  Christen Ebens   <a href="/books/NBK1401" target="NBK1401" title="NCBI Bookshelf: Fanconi Anemia">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_description">Additional description</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 />Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).&#13;
For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.  <a target="_blank" href="http://www.omim.org/entry/617883">http://www.omim.org/entry/617883</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_181539"><div><strong>Ovarian neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181539</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)&#10;Click for more information.">C0919267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the ovary.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/181539">Feature record</a> | <a href="/medgen?term=%22Ovarian%20neoplasm%22%5BClinical%20Features%5D%20OR%20181539%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1648335"><div><strong>Ovarian carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648335</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)&#10;Click for more information.">C4721610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A malignant neoplasm originating from the surface ovarian epithelium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648335">Feature record</a> | <a href="/medgen?term=%22Ovarian%20carcinoma%22%5BClinical%20Features%5D%20OR%201648335%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356033"><div><strong>Proximal placement of thumb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356033</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)&#10;Click for more information.">C1865572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Proximal mislocalization of the thumb.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356033">Feature record</a> | <a href="/medgen?term=%22Proximal%20placement%20of%20thumb%22%5BClinical%20Features%5D%20OR%20356033%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1644094"><div><strong>Clinodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644094</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)&#10;Click for more information.">C4551485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644094">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%22%5BClinical%20Features%5D%20OR%201644094%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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)&#10;Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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)&#10;Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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)&#10;Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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)&#10;Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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)&#10;Click for more information.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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)&#10;Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2670"><div><strong>Blepharophimosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2670</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)&#10;Click for more information.">C0005744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2670">Feature record</a> | <a href="/medgen?term=%22Blepharophimosis%22%5BClinical%20Features%5D%20OR%202670%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9869"><div><strong>Dental malocclusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9869</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)&#10;Click for more information.">C0024636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9869">Feature record</a> | <a href="/medgen?term=%22Dental%20malocclusion%22%5BClinical%20Features%5D%20OR%209869%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82729"><div><strong>Macrodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82729</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)&#10;Click for more information.">C0266036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82729">Feature record</a> | <a href="/medgen?term=%22Macrodontia%22%5BClinical%20Features%5D%20OR%2082729%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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)&#10;Click for more information.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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)&#10;Click for more information.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_278045"><div><strong>Narrow palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>278045</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)&#10;Click for more information.">C1398312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/278045">Feature record</a> | <a href="/medgen?term=%22Narrow%20palate%22%5BClinical%20Features%5D%20OR%20278045%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322332"><div><strong>Underdeveloped nasal alae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322332</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)&#10;Click for more information.">C1834055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Thinned, deficient, or excessively arched ala nasi.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322332">Feature record</a> | <a href="/medgen?term=%22Underdeveloped%20nasal%20alae%22%5BClinical%20Features%5D%20OR%20322332%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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)&#10;Click for more information.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_331280"><div><strong>Low anterior hairline</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331280</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)&#10;Click for more information.">C1842366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331280">Feature record</a> | <a href="/medgen?term=%22Low%20anterior%20hairline%22%5BClinical%20Features%5D%20OR%20331280%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</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)&#10;Click for more information.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_339521"><div><strong>Thick upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339521</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)&#10;Click for more information.">C1846423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339521">Feature record</a> | <a href="/medgen?term=%22Thick%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20339521%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343051"><div><strong>Prominent nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343051</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)&#10;Click for more information.">C1854113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Anterior positioning of the nasal root in comparison to the usual positioning for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343051">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20343051%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342955"><div><strong>Long eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342955</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)&#10;Click for more information.">C1853738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Mid upper eyelash length &gt;10 mm or increased length of the eyelashes (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342955">Feature record</a> | <a href="/medgen?term=%22Long%20eyelashes%22%5BClinical%20Features%5D%20OR%20342955%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1790211"><div><strong>Sparse hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790211</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)&#10;Click for more information.">C5551005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced density of hairs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1790211">Feature record</a> | <a href="/medgen?term=%22Sparse%20hair%22%5BClinical%20Features%5D%20OR%201790211%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_146260"><div><strong>Breast carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146260</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)&#10;Click for more information.">C0678222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/146260">Feature record</a> | <a href="/medgen?term=%22Breast%20carcinoma%22%5BClinical%20Features%5D%20OR%20146260%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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)&#10;Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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)&#10;Click for more information.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_91280"><div><strong>Chromosome breakage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91280</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)&#10;Click for more information.">C0376628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91280">Feature record</a> | <a href="/medgen?term=%22Chromosome%20breakage%22%5BClinical%20Features%5D%20OR%2091280%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome breakage</a></span></li></ul></li><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental malocclusion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low anterior hairline</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrodontia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_278045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow palate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick upper lip vermilion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Underdeveloped nasal alae</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal placement of thumb</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast carcinoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long eyelashes</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse hair</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian carcinoma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian neoplasm</a></span></li></ul></li></ul></div></div>
</div>
<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/35806485">Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimura A,
Imoto I,
Iwata H</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Jul 5;23(13)
doi: 10.3390/ijms23137481.
<span class="bold">PMID: </span><a href="/pubmed/35806485" target="_blank">35806485</a><a href="/pmc/articles/PMC9267387" 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/31669147">Genetic and Genomic Advances in Breast Cancer Diagnosis and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walker-Smith TL,
Peck J</span><br />
<span class="medgenPMjournal">Nurs Womens Health</span>
2019 Dec;23(6):518-525.
Epub 2019 Oct 25
doi: 10.1016/j.nwh.2019.09.003.
<span class="bold">PMID: </span><a href="/pubmed/31669147" target="_blank">31669147</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fanconi%20anemia%2C%20complementation%20group%20s)%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 (1109)</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/26187060">Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kwong A,
Shin VY,
Ho JC,
Kang E,
Nakamura S,
Teo SH,
Lee AS,
Sng JH,
Ginsburg OM,
Kurian AW,
Weitzel JN,
Siu MT,
Law FB,
Chan TL,
Narod SA,
Ford JM,
Ma ES,
Kim SW</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2016 Jan;53(1):15-23.
Epub 2015 Jul 17
doi: 10.1136/jmedgenet-2015-103132.
<span class="bold">PMID: </span><a href="/pubmed/26187060" target="_blank">26187060</a><a href="/pmc/articles/PMC4681590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25329591">BRCA1 as target for breast cancer prevention and therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romagnolo AP,
Romagnolo DF,
Selmin OI</span><br />
<span class="medgenPMjournal">Anticancer Agents Med Chem</span>
2015;15(1):4-14.
doi: 10.2174/1871520614666141020153543.
<span class="bold">PMID: </span><a href="/pubmed/25329591" target="_blank">25329591</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23747889">Breast cancer genes: beyond BRCA1 and BRCA2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Filippini SE,
Vega A</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2013 Jun 1;18(4):1358-72.
doi: 10.2741/4185.
<span class="bold">PMID: </span><a href="/pubmed/23747889" target="_blank">23747889</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22356477">Familial breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lalloo F,
Evans DG</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2012 Aug;82(2):105-14.
Epub 2012 Apr 13
doi: 10.1111/j.1399-0004.2012.01859.x.
<span class="bold">PMID: </span><a href="/pubmed/22356477" target="_blank">22356477</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16397213">BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elstrodt F,
Hollestelle A,
Nagel JH,
Gorin M,
Wasielewski M,
van den Ouweland A,
Merajver SD,
Ethier SP,
Schutte M</span><br />
<span class="medgenPMjournal">Cancer Res</span>
2006 Jan 1;66(1):41-5.
doi: 10.1158/0008-5472.CAN-05-2853.
<span class="bold">PMID: </span><a href="/pubmed/16397213" target="_blank">16397213</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (6049)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34855071">Decision thresholds with genetic testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Felder S</span><br />
<span class="medgenPMjournal">Eur J Health Econ</span>
2022 Aug;23(6):1071-1078.
Epub 2021 Dec 2
doi: 10.1007/s10198-021-01410-0.
<span class="bold">PMID: </span><a href="/pubmed/34855071" target="_blank">34855071</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32459988">Biomarker-Guided Development of DNA Repair Inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cleary JM,
Aguirre AJ,
Shapiro GI,
D'Andrea AD</span><br />
<span class="medgenPMjournal">Mol Cell</span>
2020 Jun 18;78(6):1070-1085.
Epub 2020 May 26
doi: 10.1016/j.molcel.2020.04.035.
<span class="bold">PMID: </span><a href="/pubmed/32459988" target="_blank">32459988</a><a href="/pmc/articles/PMC7316088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29687286">The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem M,
Ghazali MB,
Wahab MAMA,
Yusoff NM,
Mahsin H,
Seng CE,
Khalid IA,
Rahman MNG,
Yahaya BH</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2020;1292:1-12.
doi: 10.1007/5584_2018_147.
<span class="bold">PMID: </span><a href="/pubmed/29687286" target="_blank">29687286</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27899185">Genetic predisposition in gynecologic cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daniels MS,
Lu KH</span><br />
<span class="medgenPMjournal">Semin Oncol</span>
2016 Oct;43(5):543-547.
Epub 2016 Sep 20
doi: 10.1053/j.seminoncol.2016.08.005.
<span class="bold">PMID: </span><a href="/pubmed/27899185" target="_blank">27899185</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22356477">Familial breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lalloo F,
Evans DG</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2012 Aug;82(2):105-14.
Epub 2012 Apr 13
doi: 10.1111/j.1399-0004.2012.01859.x.
<span class="bold">PMID: </span><a href="/pubmed/22356477" target="_blank">22356477</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (4042)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32459988">Biomarker-Guided Development of DNA Repair Inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cleary JM,
Aguirre AJ,
Shapiro GI,
D'Andrea AD</span><br />
<span class="medgenPMjournal">Mol Cell</span>
2020 Jun 18;78(6):1070-1085.
Epub 2020 May 26
doi: 10.1016/j.molcel.2020.04.035.
<span class="bold">PMID: </span><a href="/pubmed/32459988" target="_blank">32459988</a><a href="/pmc/articles/PMC7316088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30110579">Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Litton JK,
Rugo HS,
Ettl J,
Hurvitz SA,
Gonçalves A,
Lee KH,
Fehrenbacher L,
Yerushalmi R,
Mina LA,
Martin M,
Roché H,
Im YH,
Quek RGW,
Markova D,
Tudor IC,
Hannah AL,
Eiermann W,
Blum JL</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2018 Aug 23;379(8):753-763.
Epub 2018 Aug 15
doi: 10.1056/NEJMoa1802905.
<span class="bold">PMID: </span><a href="/pubmed/30110579" target="_blank">30110579</a><a href="/pmc/articles/PMC10600918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29897847">Breast Cancer in Men.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giordano SH</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2018 Jun 14;378(24):2311-2320.
doi: 10.1056/NEJMra1707939.
<span class="bold">PMID: </span><a href="/pubmed/29897847" target="_blank">29897847</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25329591">BRCA1 as target for breast cancer prevention and therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romagnolo AP,
Romagnolo DF,
Selmin OI</span><br />
<span class="medgenPMjournal">Anticancer Agents Med Chem</span>
2015;15(1):4-14.
doi: 10.2174/1871520614666141020153543.
<span class="bold">PMID: </span><a href="/pubmed/25329591" target="_blank">25329591</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21067385">Triple-negative breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foulkes WD,
Smith IE,
Reis-Filho JS</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2010 Nov 11;363(20):1938-48.
doi: 10.1056/NEJMra1001389.
<span class="bold">PMID: </span><a href="/pubmed/21067385" target="_blank">21067385</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (1622)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32459988">Biomarker-Guided Development of DNA Repair Inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cleary JM,
Aguirre AJ,
Shapiro GI,
D'Andrea AD</span><br />
<span class="medgenPMjournal">Mol Cell</span>
2020 Jun 18;78(6):1070-1085.
Epub 2020 May 26
doi: 10.1016/j.molcel.2020.04.035.
<span class="bold">PMID: </span><a href="/pubmed/32459988" target="_blank">32459988</a><a href="/pmc/articles/PMC7316088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30689231">Whole genome sequencing of breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rossing M,
Sørensen CS,
Ejlertsen B,
Nielsen FC</span><br />
<span class="medgenPMjournal">APMIS</span>
2019 May;127(5):303-315.
Epub 2019 Jan 28
doi: 10.1111/apm.12920.
<span class="bold">PMID: </span><a href="/pubmed/30689231" target="_blank">30689231</a><a href="/pmc/articles/PMC6850492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23276941">Ovarian cancer as a genetic disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lech A,
Daneva T,
Pashova S,
Gagov H,
Crayton R,
Kukwa W,
Czarnecka AM,
Szczylik C</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2013 Jan 1;18(2):543-63.
doi: 10.2741/4119.
<span class="bold">PMID: </span><a href="/pubmed/23276941" target="_blank">23276941</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21067385">Triple-negative breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foulkes WD,
Smith IE,
Reis-Filho JS</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2010 Nov 11;363(20):1938-48.
doi: 10.1056/NEJMra1001389.
<span class="bold">PMID: </span><a href="/pubmed/21067385" target="_blank">21067385</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14576434">Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">King MC,
Marks JH,
Mandell JB;
New York Breast Cancer Study Group</span><br />
<span class="medgenPMjournal">Science</span>
2003 Oct 24;302(5645):643-6.
doi: 10.1126/science.1088759.
<span class="bold">PMID: </span><a href="/pubmed/14576434" target="_blank">14576434</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (2871)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32459988">Biomarker-Guided Development of DNA Repair Inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cleary JM,
Aguirre AJ,
Shapiro GI,
D'Andrea AD</span><br />
<span class="medgenPMjournal">Mol Cell</span>
2020 Jun 18;78(6):1070-1085.
Epub 2020 May 26
doi: 10.1016/j.molcel.2020.04.035.
<span class="bold">PMID: </span><a href="/pubmed/32459988" target="_blank">32459988</a><a href="/pmc/articles/PMC7316088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29687286">The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem M,
Ghazali MB,
Wahab MAMA,
Yusoff NM,
Mahsin H,
Seng CE,
Khalid IA,
Rahman MNG,
Yahaya BH</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2020;1292:1-12.
doi: 10.1007/5584_2018_147.
<span class="bold">PMID: </span><a href="/pubmed/29687286" target="_blank">29687286</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24389207">The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paul A,
Paul S</span><br />
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
2014 Jan 1;19(4):605-18.
doi: 10.2741/4230.
<span class="bold">PMID: </span><a href="/pubmed/24389207" target="_blank">24389207</a><a href="/pmc/articles/PMC4307936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22608084">Mutational processes molding the genomes of 21 breast cancers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nik-Zainal S,
Alexandrov LB,
Wedge DC,
Van Loo P,
Greenman CD,
Raine K,
Jones D,
Hinton J,
Marshall J,
Stebbings LA,
Menzies A,
Martin S,
Leung K,
Chen L,
Leroy C,
Ramakrishna M,
Rance R,
Lau KW,
Mudie LJ,
Varela I,
McBride DJ,
Bignell GR,
Cooke SL,
Shlien A,
Gamble J,
Whitmore I,
Maddison M,
Tarpey PS,
Davies HR,
Papaemmanuil E,
Stephens PJ,
McLaren S,
Butler AP,
Teague JW,
Jönsson G,
Garber JE,
Silver D,
Miron P,
Fatima A,
Boyault S,
Langerød A,
Tutt A,
Martens JW,
Aparicio SA,
Borg Å,
Salomon AV,
Thomas G,
Børresen-Dale AL,
Richardson AL,
Neuberger MS,
Futreal PA,
Campbell PJ,
Stratton MR;
Breast Cancer Working Group of the International Cancer Genome Consortium</span><br />
<span class="medgenPMjournal">Cell</span>
2012 May 25;149(5):979-93.
Epub 2012 May 17
doi: 10.1016/j.cell.2012.04.024.
<span class="bold">PMID: </span><a href="/pubmed/22608084" target="_blank">22608084</a><a href="/pmc/articles/PMC3414841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11823860">Gene expression profiling predicts clinical outcome of breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van 't Veer LJ,
Dai H,
van de Vijver MJ,
He YD,
Hart AA,
Mao M,
Peterse HL,
van der Kooy K,
Marton MJ,
Witteveen AT,
Schreiber GJ,
Kerkhoven RM,
Roberts C,
Linsley PS,
Bernards R,
Friend SH</span><br />
<span class="medgenPMjournal">Nature</span>
2002 Jan 31;415(6871):530-6.
doi: 10.1038/415530a.
<span class="bold">PMID: </span><a href="/pubmed/11823860" target="_blank">11823860</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (3317)</a></div></div>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38175972">Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bedrosian I,
Somerfield MR,
Achatz MI,
Boughey JC,
Curigliano G,
Friedman S,
Kohlmann WK,
Kurian AW,
Laronga C,
Lynce F,
Norquist BS,
Plichta JK,
Rodriguez P,
Shah PD,
Tischkowitz M,
Wood M,
Yadav S,
Yao K,
Robson ME</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2024 Feb 10;42(5):584-604.
Epub 2024 Jan 4
doi: 10.1200/JCO.23.02225.
<span class="bold">PMID: </span><a href="/pubmed/38175972" target="_blank">38175972</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34577828">BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee YC,
Lee YL,
Li CY</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2021 Aug 30;57(9)
doi: 10.3390/medicina57090905.
<span class="bold">PMID: </span><a href="/pubmed/34577828" target="_blank">34577828</a><a href="/pmc/articles/PMC8464901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32790492">PARP Inhibitors in the Management of Ovarian Cancer: ASCO Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tew WP,
Lacchetti C,
Ellis A,
Maxian K,
Banerjee S,
Bookman M,
Jones MB,
Lee JM,
Lheureux S,
Liu JF,
Moore KN,
Muller C,
Rodriguez P,
Walsh C,
Westin SN,
Kohn EC</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2020 Oct 20;38(30):3468-3493.
Epub 2020 Aug 13
doi: 10.1200/JCO.20.01924.
<span class="bold">PMID: </span><a href="/pubmed/32790492" target="_blank">32790492</a><a href="/pmc/articles/PMC8942301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31986064">Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinopoulos PA,
Norquist B,
Lacchetti C,
Armstrong D,
Grisham RN,
Goodfellow PJ,
Kohn EC,
Levine DA,
Liu JF,
Lu KH,
Sparacio D,
Annunziata CM</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2020 Apr 10;38(11):1222-1245.
Epub 2020 Jan 27
doi: 10.1200/JCO.19.02960.
<span class="bold">PMID: </span><a href="/pubmed/31986064" target="_blank">31986064</a><a href="/pmc/articles/PMC8842911" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27749552">Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baretta Z,
Mocellin S,
Goldin E,
Olopade OI,
Huo D</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2016 Oct;95(40):e4975.
doi: 10.1097/MD.0000000000004975.
<span class="bold">PMID: </span><a href="/pubmed/27749552" target="_blank">27749552</a><a href="/pmc/articles/PMC5059054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fanconi%20anemia%2C%20complementation%20group%20S%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 (99)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4554406%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
<li><a href="/gtr/tests?term=C4554406%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
<li><a href="/gtr/tests?term=C4554406%5bDISCUI%5d&amp;filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
<li><a href="/gtr/tests?term=C4554406%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
<li><a href="/gtr/tests?term=C4554406%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4554406%5bDISCUI%5d" target="_blank">See all (47)</a></total></li>
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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=(fanconi%20anemia%2C%20complementation%20group%20s)%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(%22Fanconi%20anemia%2C%20complementation%20group%20S%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="https://www.malacards.org/card/fanconi_anemia_complementation_group_s" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Fanconi%20anemia,%20complementation%20group%20S" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16264/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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