{"orpha":319462,"name":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319462/","orphanet_url":"https://www.orpha.net/en/disease/detail/319462","names":{"fr":{"name":"Syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2","definition":"Un syndrome rare de prédisposition au cancer associé à une anémie de Fanconi de sous-groupe D1. Il se caractérise par une insuffisance médullaire progressive, des anomalies cardiaques, cérébrales, intestinales ou squelettiques, et une prédisposition à divers cancers. La suppression de la moelle osseuse et l'incidence des anomalies du développement sont plus rares que dans d'autres anémies de Fanconi, mais le risque de cancer est très élevé. Le spectre des cancers infantiles inclut la tumeur de Wilms, la tumeur cérébrale (souvent un médulloblastome) et la leucémie aigüe lymphoblastique (LAL)/leucémie aigüe myéloblastique (LAM)."},"de":{"name":"Vererbtes Krebsprädispositionssyndrom durch biallelische BRCA2-Genmutationen","definition":"Ein seltenes krebsprädisponierendes Syndrom, das mit der D1-Untergruppe der Fanconi-Anämie (FA) assoziiert ist und durch fortschreitende Knochenmarkinsuffizienz, Herz-, Hirn-, Darm- oder Skelettanomalien und Prädisposition für verschiedene Malignome gekennzeichnet ist. Die Knochenmarksuppression und das Auftreten von Entwicklungsanomalien sind weniger häufig als bei anderen FA, aber das Krebsrisiko ist sehr hoch. Das Spektrum der Krebserkrankungen im Kindesalter umfasst Wilms-Tumor, Hirntumor (häufig Medulloblastom) und akute lymphatische Leukämie (ALL)/akute myeloblastische Leukämie (AML)."},"es":{"name":"Síndrome de predisposición hereditaria al cáncer por mutaciones bialélicas en el gen BRCA2","definition":"Es un síndrome poco frecuente de predisposición al cáncer asociado con el subgrupo D1 de la anemia de Fanconi (AF). Está caracterizado por fallo medular progresivo, anomalías cardíacas, cerebrales, intestinales o esqueléticas y predisposición a diversas neoplasias malignas. La aplasia medular y la incidencia de anomalías del desarrollo son menos frecuentes que en otros subgrupos de AF, pero el riesgo de cáncer es muy elevado, con un espectro de cánceres pediátricos que incluye el tumor de Wilms, tumores cerebrales (a menudo meduloblastoma) y leucemias LLA / LMA."},"it":{"name":"Sindrome ereditaria da predisposizione al cancro da mutazioni bialleliche di BRCA2","definition":"La sindrome ereditaria da predisposizione al cancro da mutazioni bialleliche di BRCA2 è una malattia rara che predispone ai tumori, associata all'anemia di Fanconi (AF) sottogruppo D1. È caratterizzata da insufficienza progressiva del midollo osseo, cardiopatie, anomalie cerebrali, intestinali o scheletriche e predisposizione a diversi tumori maligni. La soppressione del midollo osseo e l'incidenza delle anomalie dello sviluppo sono meno frequenti rispetto alle altre forme di AF, ma il rischio di sviluppare tumori infantili è molto elevato (tumore di Wilms, tumore cerebrale - spesso medulloblastoma - e LLA/LMA)."},"nl":{"name":"Hereditair kankerpredispositiesyndroom door biallelische BRCA2-mutaties","definition":"Overgeërfd kankerpredispositiesyndroom door biallelische BRCA2-mutaties is een zeldzaam predispositiesyndroom dat is geassocieerd met de D1-subgroep van Fanconi-anemie (FA) en wordt gekarakteriseerd door progressief beenmergfalen, afwijkingen van het hart, de hersenen, de darmen of het skelet, en predispositie voor verscheidene maligniteiten. De frequentie van beenmergsuppressie en de incidentie van ontwikkelingsanomalieën liggen lager dan bij andere FA, maar het risico op kanker is zeer hoog en het spectrum van kankers in de kindertijd omvat Wilmstumor, hersentumor (vaak medulloblastoom) en ALL/AML."},"pt":{"name":"Sindrome de predisposição hereditária ao cancro por mutações bialélicas BRCA2"},"pl":{"name":"Wrodzony zespół predyspozycji do nowotworzenia z powodu biallelicznych mutacji BRCA2"},"cs":{"name":"Dědičný syndrom predispozice k rakovině způsobený bialelickou mutací BRCA2"},"uk":{"name":"Спадковий синдром схильності до раку, зумовлений біалельними мутаціями BRCA2","definition":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML."},"zh":{"name":"BRCA2双等位基因突变所致遗传性癌症易感综合征","definition":"双等位基因BRCA2突变引起的遗传性癌症易感性综合征是一种罕见的癌症易感性综合征，与范科尼贫血（FA）D1亚组相关，其特征是进行性骨髓衰竭、心脏、大脑、肠道或骨骼异常以及各种恶性肿瘤的易感性。骨髓抑制和发育异常的发生率低于其他FA，但癌症风险非常高，尤其是儿童癌症包括肾母细胞瘤、脑瘤(通常为髓母细胞瘤)和ALL/AML。"},"tr":{"name":"Bialelik BRCA2 mutasyonlarına bağlı kalıtsal kansere yatkınlık sendromu"}},"xrefs":[{"source":"OMIM","code":"605724","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0011584","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707792","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]}],"children":[],"genes":[{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15689453[PMID]_16825431[PMID]_14670928[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}