Obstet Gynecol. 2017 Sep;130(3):e110-e126. doi: 10.1097/AOG.0000000000002296.
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer. For these individuals, screening and prevention strategies can be instituted to reduce their risks. Obstetrician-gynecologists play an important role in the identification and management of women with hereditary breast and ovarian cancer syndrome. If an obstetrician-gynecologist or other gynecologic care provider does not have the necessary knowledge or expertise in cancer genetics to counsel a patient appropriately, referral to a genetic counselor, gynecologic or medical oncologist, or other genetics specialist should be considered (1). More genes are being discovered that impart varying risks of breast cancer, ovarian cancer, and other types of cancer, and new technologies are being developed for genetic testing. This Practice Bulletin focuses on the primary genetic mutations associated with hereditary breast and ovarian cancer syndrome, BRCA1 and BRCA2, but also will briefly discuss some of the other genes that have been implicated.
遗传性乳腺癌和卵巢癌综合征是一种遗传性癌症易感性综合征，其特征是多个家族成员患有乳腺癌、卵巢癌或两者兼有。基于对卵巢癌的起源和管理的现代理解，并为了本文件的简洁起见，卵巢癌也包括输卵管癌和原发性腹膜癌。对基因突变的临床遗传检测可以更准确地识别那些患有遗传性乳腺癌和卵巢癌风险增加的女性。对于这些个体，可以制定筛查和预防策略来降低他们的风险。妇产科医生在识别和管理遗传性乳腺癌和卵巢癌综合征患者方面发挥着重要作用。如果妇产科医生或其他妇科护理提供者没有必要的癌症遗传学知识或专业知识来适当咨询患者，应考虑转介给遗传咨询师、妇科或肿瘤内科医生或其他遗传学专家(1)。越来越多的基因被发现会增加乳腺癌、卵巢癌和其他类型癌症的风险，并且正在开发新的基因检测技术。本实践公告主要关注与遗传性乳腺癌和卵巢癌综合征相关的主要遗传突变，即 BRCA1 和 BRCA2，但也将简要讨论一些其他已被牵连的基因。
