Institute of Oncology of Southern Switzerland, Bellinzona, Switzerland.
Breast. 2013 Aug;22(4):375-82. doi: 10.1016/j.breast.2013.04.006. Epub 2013 May 11.
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.
在未选择的人群中，不到 10%的乳腺癌与易感基因的种系突变有关。乳腺癌 1 型和 2 型（BRCA1 和 BRCA2）易感基因是最常见的相关基因，与普通人群相比，患该病的风险高出 10-30 倍。具有遗传性乳腺癌综合征提示的个人或家族史可能需要进一步评估，以评估遗传易感性的风险和基因突变的存在。乳腺癌遗传咨询应包括仔细的风险评估，以及相关的社会心理评估和支持、可能的分子检测、结果的个性化讨论。BRCA 状态的知识可以影响个体化癌症风险降低策略，例如主动监测、预防性手术和/或药物预防。
