BRCA相关的卵巢癌：从分子遗传学至风险管理
BRCA-associated ovarian cancer: from molecular genetics to risk management.
作者信息
Girolimetti Giulia, Perrone Anna Myriam, Santini Donatella, Barbieri Elena, Guerra Flora, Ferrari Simona, Zamagni Claudio, De Iaco Pierandrea, Gasparre Giuseppe, Turchetti Daniela
机构信息
Dipartimento di Scienze Mediche e Chirurgiche, Unità di Genetica Medica, Università di Bologna, Policlinico S. Orsola-Malpighi, Via Massarenti 9 [Pad. 11, 2° Piano], 40138 Bologna, Italy.
SSD Oncologia Ginecologica, AOU di Bologna, Policlinico S. Orsola-Malpighi, 40138 Bologna, Italy.
出版信息
Biomed Res Int. 2014;2014:787143. doi: 10.1155/2014/787143. Epub 2014 Jul 22.
Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutations in BRCA1 and BRCA2 genes. The presence of a BRCA mutation in OC patients has been suggested as a prognostic and predictive factor. In addition, the identification of asymptomatic carriers of such mutations offers an unprecedented opportunity for OC prevention. This review is aimed at exploring the current knowledge on epidemiological and molecular aspects of BRCA-associated OC predisposition, on pathology and clinical behavior of OC occurring in BRCA mutation carriers, and on the available options for managing asymptomatic carriers.
卵巢癌（OC）大多为散发性，但有一部分病例与BRCA1和BRCA2基因的突变有关。OC患者中存在BRCA突变已被认为是一种预后和预测因素。此外，识别此类突变的无症状携带者为OC预防提供了前所未有的机会。本综述旨在探讨关于BRCA相关OC易感性的流行病学和分子方面、BRCA突变携带者中发生的OC的病理学和临床行为，以及管理无症状携带者的可用选项的现有知识。
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