Paterson Robin, Phillips Kelly-Anne
a Australia and New Zealand Breast Cancer Trials Group , Newcastle , Australia.
b School of Medicine and Public Health , University of Newcastle , Newcastle , Australia.
Expert Rev Anticancer Ther. 2017 Nov;17(11):991-1002. doi: 10.1080/14737140.2017.1374175. Epub 2017 Sep 8.
Mutations in either the BRCA1 or BRCA2 genes are responsible for approximately 42,000 cases of breast cancer annually. Identifying these germline mutations in a woman with breast cancer is important because it can influence her immediate and long-term management and has important implications for other family members. Areas covered: This review highlights how treatment-focussed genetic testing for BRCA1 and BRCA2 mutations can potentially influence cancer treatment and secondary prevention decisions in women with breast cancer. Expert commentary: Testing women with breast cancer for BRCA1 and BRCA2 germline mutations has the potential to decrease cancer burden and improve cancer outcomes. It can help optimise surgical and systemic therapy approaches. Clinicians should actively consider whether genetic testing is appropriate for each woman with breast cancer, and if so should instigate it early in the treatment trajectory when it can most influence cancer care.
每年，BRCA1或BRCA2基因的突变导致约42000例乳腺癌病例。在患有乳腺癌的女性中识别这些种系突变很重要，因为这会影响她的近期和长期治疗管理，并且对其他家庭成员也有重要意义。涵盖领域：本综述强调了针对BRCA1和BRCA2突变的以治疗为重点的基因检测如何可能影响乳腺癌女性的癌症治疗和二级预防决策。专家评论：对患有乳腺癌的女性进行BRCA1和BRCA2种系突变检测有可能减轻癌症负担并改善癌症预后。它有助于优化手术和全身治疗方法。临床医生应积极考虑基因检测是否适用于每位乳腺癌女性，如果适用，应在治疗过程中尽早进行检测，因为此时检测对癌症治疗的影响最大。
