Nusbaum Rachel, Isaacs Claudine
Lombardi Comprehensive Cancer Center, Jess and Mildred Fisher Center for Familial Cancer Research, Washington, DC, USA.
Mol Diagn Ther. 2007;11(3):133-44. doi: 10.1007/BF03256234.
In most cases of families with breast and ovarian cancer, the pattern of cancers in the family can be attributed to mutations in the BRCA1 and BRCA2 genes. Genetic testing for these cancer susceptibility genes typically takes place in the context of comprehensive genetic counseling. Strategies have been developed for the medical management of women at high risk of developing breast cancer, including options for screening and prophylactic surgery. BRCA1 and BRCA2 carriers are recommended to undergo prophylactic bilateral salpingo-oophorectomy by age 35-40 years or when childbearing is complete. This surgery significantly reduces the risk of ovarian cancer and also reduces the risk of breast cancer when performed in premenopausal mutation carriers. For breast cancer management, BRCA1 and BRCA2 carriers are offered the options of increased surveillance, with or without chemoprevention, or prophylactic surgery. Currently, BRCA carrier status is not used as an independent prognostic factor regarding systemic treatment options.
在大多数患有乳腺癌和卵巢癌的家庭中，家族中的癌症模式可归因于BRCA1和BRCA2基因的突变。针对这些癌症易感基因的基因检测通常在全面的遗传咨询背景下进行。已经制定了针对有患乳腺癌高风险女性的医疗管理策略，包括筛查和预防性手术的选择。建议BRCA1和BRCA2基因携带者在35 - 40岁或生育结束时接受双侧输卵管卵巢预防性切除术。这种手术可显著降低卵巢癌风险，对于绝经前的突变携带者而言，还可降低乳腺癌风险。对于乳腺癌管理，BRCA1和BRCA2基因携带者可选择加强监测，可进行或不进行化学预防，也可选择预防性手术。目前，BRCA基因携带者状态不作为系统治疗方案的独立预后因素。
