Germline Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.

The prevalence of the mutation in breast cancer varies across different ethnic groups; hence, it is of intense interest to evaluate the cancer risk and clinical association of the mutation in Chinese breast and/or ovarian cancer patients. We performed sequencing with a 6-gene test panel (, , , and ) to identify the prevalence of the germline mutation among 2631 patients with breast and/or ovarian cancer. In this cohort, 39 mutations were identified with 24 types of mutation variants, where the majority of the mutations were frame-shift mutations and resulted in early termination. We also identified seven novel mutations. Most of the mutation carriers had breast cancer (36, 92.3%) and were more likely to have family history of breast cancer (19, 48.7%). The majority of the breast tumors were invasive ductal carcinoma (NOS type) (34, 81.0%) and hormonal positive (ER: 32, 84.2%; PR: 23, 60.5%). Pathogenic mutations of were found in 39 probands with a mutation frequency of 1.6% and 1% in breast cancer and ovarian cancer patients, respectively. mutation carriers were more likely have hormonal positive tumors and were likely to have familial aggregation of breast cancer.