Bando Hiroko
Department of Breast and Endocrine Surgery, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan,
Breast Cancer. 2014 Nov;21(6):656-63. doi: 10.1007/s12282-013-0477-z. Epub 2013 Jun 11.
About 5-10 % of breast cancer cases are considered to be hereditary, and germ line mutations in the BRCA1 and BRCA2 genes have been proven to contribute to the development of hereditary breast and/or ovarian cancer syndrome (HBOC). Breast cancer diagnosed at a young age is an indication of a higher likelihood of HBOC. Risk assessment, genetic counseling, and BRCA1/BRCA2 mutation testing, especially for younger women with breast cancer, have started to be an integral element of practice due to advances in gene sequencing technologies and accumulating evidence for the clinical implications of BRCA mutation status for not only early breast cancer management, but also for the patient's own and their family's next cancer risk, and proactive steps toward a risk-reducing approach. As yet, the cancer genetic service system is immature in Japan. There are several problems to be solved to improve cancer genetic services in clinical practice for breast cancer.
约5%-10%的乳腺癌病例被认为是遗传性的，并且已证实BRCA1和BRCA2基因的种系突变会导致遗传性乳腺癌和/或卵巢癌综合征（HBOC）的发生。年轻时诊断出的乳腺癌表明患HBOC的可能性更高。由于基因测序技术的进步以及越来越多的证据表明BRCA突变状态不仅对早期乳腺癌管理，而且对患者自身及其家族的下一次癌症风险以及采取降低风险方法的积极步骤具有临床意义，风险评估、遗传咨询和BRCA1/BRCA2突变检测，特别是对于患有乳腺癌的年轻女性，已开始成为临床实践中不可或缺的一部分。目前，日本的癌症遗传服务系统尚不成熟。在临床实践中改善乳腺癌的癌症遗传服务仍有几个问题有待解决。
