{"orpha":213524,"name":"Hereditary site-specific ovarian cancer syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary breast and ovarian cancer syndrome","url":"https://raremap.alftech.space/d/ORPHA-213524/","orphanet_url":"https://www.orpha.net/en/disease/detail/213524","names":{"fr":{"name":"Syndrome héréditaire de prédisposition au cancer de l'ovaire"},"de":{"name":"Ovarialkarzinom, lagespezifisches"},"es":{"name":"Síndrome de cáncer de ovario hereditario de localización específica"},"it":{"name":"Sindrome del cancro ovarico ereditario sito-specifico"},"nl":{"name":"Hereditaire plaatsspecifieke eierstokkanker-syndroom"},"pt":{"name":"Síndrome cancro do ovário local-específico hereditário"},"pl":{"name":"Zespół dziedzicznego raka jajnika specyficznego narządowo"},"cs":{"name":"Dědičný syndrom rakoviny vaječníků s určenou lokalizací"},"uk":{"name":"Спадковий сайт-специфічний синдром раку яєчників"},"zh":{"name":"遗传性位点特异性卵巢癌综合征","definition":"特异性遗传位点卵巢癌综合征是指各种基因遗传突变引起的卵巢癌，通常伴有其它癌症的风险。最常见的是BRCA1和BRCA2基因突变引起的乳腺和卵巢癌综合征（HBOC），以及由DNA错配修复基因突变引起的遗传性非息肉性结直肠癌（HNPCC）。STK11基因突变导致的Peutz-Jeghers综合征也与卵巢癌（典型的性索间质肿瘤）相关。在少数患者中，其他基因的突变也会增加卵巢癌的风险，包括RAD51C、RAD51D、PALB2等。"},"tr":{"name":"Kalıtsal bölgeye özgü yumurtalık kanseri sendromu"}},"xrefs":[{"source":"UMLS","code":"C4749652","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":145,"name":"Hereditary breast and/or ovarian cancer syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}