{"orpha":145,"name":"Hereditary breast and/or ovarian cancer syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-145/","orphanet_url":"https://www.orpha.net/en/disease/detail/145","names":{"fr":{"name":"Syndrome héréditaire de prédisposition au cancer du sein et/ou de l'ovaire","definition":"Maladie génétique rare caractérisée par une susceptibilité héréditaire au cancer du sein et/ou de l'ovaire. Elle peut être définie à l'aide de critères reposant sur des antécédents familiaux ou par l'identification de variants germinaux pathogènes (VGP) dans les gènes <i>HBOC</i> validés cliniquement. Cependant, la base génétique d'environ la moitié des cas cliniques de la maladie est actuellement inconnue ou inexpliquée par des formes monogéniques, et environ la moitié des individus qui présentent des variants pathogènes des gènes <i>HBOC</i> n'ont pas d'antécédents familiaux évocateurs."},"de":{"name":"Brust- und/oder Ovarialkrebssyndrom, hereditäres","definition":"Eine genetische Erkrankung, die durch eine erbliche Anfälligkeit für Brust- und/oder Eierstockkrebs gekennzeichnet ist. Sie kann anhand von Kriterien der Familienanamnese oder durch die Identifizierung von pathogenen Varianten in der Keimbahn (GPVs) in klinisch validierten HBOC-Genen definiert werden. Die genetische Grundlage von etwa der Hälfte der klinischen HBOC ist jedoch derzeit unbekannt oder kann nicht durch Einzelgenvarianten erklärt werden, und etwa die Hälfte der Personen, die PVs in HBOC-Genen beherbergen, haben keine entsprechende Familienanamnese."},"es":{"name":"Síndrome de cáncer hereditario de mama y/o de ovario","definition":"Es un trastorno genético caracterizado por susceptibilidad hereditaria al cáncer de mama y/o de ovario. Se puede definir utilizando criterios de antecedentes familiares o mediante la identificación de variantes patogénicas de línea germinal (VPG) en genes asociados al CHMO clínicamente validados. Sin embargo, la base genética de aproximadamente el 50% de los casos clínicos de CHMO es desconocida en la actualidad o no se explica por variantes de un solo gen, y aproximadamente la mitad de las pacientes que albergan VP en genes asociados al CHMO no presentan antecedentes familiares sugestivos."},"it":{"name":"Sindrome del cancro ereditario della mammella e/o dell'ovaio"},"nl":{"name":"Erfelijk syndroom van borst- en/of ovariumkanker","definition":"Een genetische aandoening, gekenmerkt door erfelijke susceptibiliteit voor borst- en/of eierstokkanker. Het kan gedefinieerd worden met criteria van familiegeschiedenis, of door identificatie van pathogene kiembaan varianten in klinisch gevalideerde HBOC-genen. In ongeveer de helft van de gevallen van klinische HBOC is de genetische basis momenteel echter niet gekend of niet te verklaren door varianten van een enkel gen, en ongeveer de helft van de individuen met pathogene varianten in HBOC-genen hebben geen suggestieve familiegeschiedenis."},"pt":{"name":"Síndrome de cancro da mama e/ou ovário hereditário","definition":"Patologia genética caracterizada por suscetibilidade hereditária para cancro da mama e/ou do ovário. Pode ser definida utilizando critérios de história familiar ou através da identificação de variantes patogénicas germinativas (VPGs) em genes clinicamente validados para CMOH. No entanto, a base genética de cerca de metade dos casos de CMOH clínico é atualmente desconhecida ou inexplicada por variantes em gene único e aproximadamente metade dos indivíduos que têm VPs em genes de CMOH não têm antecedentes familiares sugestivos."},"pl":{"name":"Dziedziczny rak piersi i jajnika","synonyms":["Dziedziczny zespół raka piersi i/lub jajnika"]},"cs":{"name":"Dědičná forma rakoviny prsu a vaječníků"},"uk":{"name":"Спадковий синдром раку молочної залози та/або яєчників","definition":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history."},"zh":{"name":"遗传性乳腺癌-卵巢癌综合征"},"tr":{"name":"Kalıtsal meme ve over kanseri sendromu"}},"xrefs":[{"source":"OMIM","code":"114480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604370","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612555","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613399","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614291","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C50.9","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C56","qualifier":"ND","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C65","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1258896144"},{"source":"MONDO","code":"0003582","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D061325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0677776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":213524,"name":"Hereditary site-specific ovarian cancer syndrome","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":183731,"name":"Rare genetic gynecological and obstetrical diseases","classifications":[156]},{"orpha":180257,"name":"Rare malignant breast tumor","classifications":[202,205]}],"children":[],"genes":[{"symbol":"BARD1","name":"BRCA1 associated RING domain 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15342711[PMID]","hgnc":"952","ensembl":"ENSG00000138376","omim":"601593","loci":["2q35"]},{"symbol":"BRIP1","name":"BRCA1 interacting DNA helicase 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17033622[PMID]","hgnc":"20473","ensembl":"ENSG00000136492","omim":"605882","loci":["17q23.2"]},{"symbol":"CHEK2","name":"checkpoint kinase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21562711[PMID]","hgnc":"16627","ensembl":"ENSG00000183765","omim":"604373","loci":["22q12.1"]},{"symbol":"MRE11","name":"MRE11 double strand break repair nuclease","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22006311[PMID]_14684699[PMID]","hgnc":"7230","ensembl":"ENSG00000020922","omim":"600814","loci":["11q21"]},{"symbol":"NBN","name":"nibrin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22006311[PMID]_14684699[PMID]","hgnc":"7652","ensembl":"ENSG00000104320","omim":"602667","loci":["8q21.3"]},{"symbol":"PALB2","name":"partner and localizer of BRCA2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23779253[PMID]","hgnc":"26144","ensembl":"ENSG00000083093","omim":"610355","loci":["16p12.2"]},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23779253[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]},{"symbol":"RAD50","name":"RAD50 double strand break repair protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22006311[PMID]_14684699[PMID]","hgnc":"9816","ensembl":"ENSG00000113522","omim":"604040","loci":["5q31.1"]},{"symbol":"RAD51","name":"RAD51 recombinase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10807537[PMID]_24114315[PMID]","hgnc":"9817","ensembl":"ENSG00000051180","omim":"179617","loci":["15q15.1"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24884479[PMID]_23779253[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"BRCA1","name":"BRCA1 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16112002[PMID]_20301425[PMID]","hgnc":"1100","ensembl":"ENSG00000012048","omim":"113705","loci":["17q21.31"]},{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16112002[PMID]_20301425[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"RAD51C","name":"RAD51 paralog C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20400964[PMID]_21990120[PMID]","hgnc":"9820","ensembl":"ENSG00000108384","omim":"602774","loci":["17q22"]},{"symbol":"RAD51D","name":"RAD51 paralog D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21822267[PMID]","hgnc":"9823","ensembl":"ENSG00000185379","omim":"602954","loci":["17q12"]},{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"33471991[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"28632866[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-24","source":"20301425[PMID]","terms":[{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030406","label":"Primary peritoneal carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Occasional (29-5%)","criteria":null}]}}