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The database of BRCA1/2 mutations in Chinese population remains incomplete at present. Therefore, the present study aimed to report specific harmful BRCA1/2 mutations in the Chinese population and discuss the clinicopathological features in mutation carriers. BRCA1/2 germline mutation tests for 71 patients with breast cancer from a hereditarily high-risk Chinese population were performed using next-generation sequencing for identification of deleterious mutations. Furthermore, the clinicopathological features between BRCA1/2 mutation carriers and non-carriers were compared. A total of 13/71 (18.3%) patients carried a BRCA1 or BRCA2 mutation (7 BRCA1 and 6 BRCA2). The incidence of BRCA1/2 mutation in patients with bilateral breast cancer and patients with family history were 25, and 32.2%, respectively. Eleven pathogenic or likely pathogenic mutations were identified in 13 patients, among the mutation sites 7 were never reported before in Asian populations. The age at diagnosis of BRCA1/2 mutation carriers was older compared with non-mutation carriers (44.73 vs. 35.39 years; P=0.001) in this cohort. BRCA1/2 deleterious mutation carriers had a significantly lower chance of human epidermal growth factor receptor-2 (Her-2) positive status (P=0.010), higher tumor grade at diagnosis (P=0.009), higher probability to have a family history (P=0.016) and older age at diagnosis. Estrogen receptor (ER) and progesterone receptor (PR) status were significantly different between BRCA1, and BRCA2 mutation carriers (P=0.007). The current interpretation of BRCA1/2 status can only explain a small part of hereditary high-risk breast cancer. However, BRCA1/2 gene testing should still be recommended for women with a family history of breast cancer, as well as patients with breast cancer with specific pathologic types, which may be useful to make appropriate clinical decisions for treatment and prevention.

oncology letters

Characterization of mutations in BRCA1/2 and the relationship with clinic‑pathological features of breast cancer in a hereditarily high‑risk sample of chinese population