Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan, USA.
Genet Med. 2010 May;12(5):245-59. doi: 10.1097/GIM.0b013e3181d38f2f.
Hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer. The overall prevalence of BRCA1/2 mutations is estimated to be from 1 in 400 to 1 in 800 with a higher prevalence in the Ashkenazi Jewish population (1 in 40). Estimates of penetrance (cancer risk) vary considerably depending on the context in which they were derived and have been shown to vary within families with the same BRCA1/2 mutation. This suggests there is no exact risk estimate that can be applied to all individuals with a BRCA1/2 mutation. The likelihood of harboring a BRCA1 or BRCA2 mutation is dependent on one's personal and/or family history of cancer and can be estimated using various mutation probability models. For those individuals who have a BRCA1 or BRCA2 mutation, several screening and primary prevention options have been suggested, including prophylactic surgery and chemoprevention. Once a BRCA1 or BRCA2 mutation has been identified in a family, testing of at-risk relatives can identify those family members who also have the familial mutation and thus need increased surveillance and early intervention when a cancer is diagnosed.
遗传性乳腺癌和卵巢癌是由于 BRCA1 和 BRCA2 基因突变引起的，是乳腺癌和卵巢癌遗传性形式中最常见的原因。BRCA1/2 基因突变的总体患病率估计为每 400 至 800 人中有 1 人，在阿什肯纳兹犹太人群体中患病率更高（每 40 人中有 1 人）。外显率（癌症风险）的估计值差异很大，具体取决于其来源的背景，并且已经证明在具有相同 BRCA1/2 突变的家庭中存在差异。这表明，对于所有携带 BRCA1/2 突变的个体，没有确切的风险估计值可以适用。携带 BRCA1 或 BRCA2 突变的可能性取决于个人及其家族的癌症病史，可以使用各种突变概率模型进行估计。对于那些具有 BRCA1 或 BRCA2 突变的个体，已经提出了几种筛查和初级预防选择，包括预防性手术和化学预防。一旦在一个家族中确定了 BRCA1 或 BRCA2 突变，对高危亲属进行测试可以识别出那些也具有家族性突变的家族成员，从而在诊断出癌症时需要增加监测和早期干预。
