Abstract
Breast cancer susceptibility genes, BRCA1/2, are associated with the development of breast cancer and have been studied extensively in Western societies. The role of BRCA1/2 genes in Chinese women with breast cancer has not been fully elucidated. We determined the prevalence and characteristics of BRCA1/2 germline mutations in a large cohort of 5,931 Chinese women with breast cancer. Further, we conducted a kin-cohort study to investigate the estimated cumulative risks in Chinese women who carry a deleterious BRCA1 or BRCA2 mutation. We also investigated the association between BRCA1 mutation carriers and response to neoadjuvant anthracycline-based chemotherapy among Chinese women with triple-negative breast cancer. Our findings provide guidelines for Chinese women with breast cancer who should undergo BRCA1/2 genetic testing. BRCA1 mutated triple-negative breast cancer patients are more likely respond to neoadjuavnt anthracycline-based regimens. In addition, BRCA1/2 mutation carriers may have a high risk to development of breast cancer in life-span, therefore, intensive surveillance and prophylactic surgery should be applied for these women.
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