Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China

Carriers with germline breast cancer 1/2 gene mutations ( BRCA m) are likely to develop ovarian cancer (OC). Therefore, identifying these mutations may enable individualized therapy for OC and preventive measures to reduce OC risk in BRCA m carrier families. Thus, we investigated the prevalence of BRCA m in OC patients from Yunnan Province in Southwest China. In total, 674 unselected OC patients were enrolled and tested for BRCA m via next-generation sequencing. Data on clinicopathological characteristics and personal/family history of cancer were collected. The prevalence rates of pathogenic/likely pathogenic BRCA m were 26.6% overall, 20.8% among BRCA1 m carriers, 5.5% among BRCA2 m carriers, and 0.3% among carriers of both BRCA1 m and BRCA2 m. The most common pathogenic mutation in the BRCA1 gene was c.5114T>C ( n = 9). The number of BRCA m carriers was significantly greater among patients with serous cancer, a personal tumor history, a family history of hereditary breast and ovarian cancer (HBOC)-related tumors, and bilateral tumors. The most common pathogenic mutation in this cohort was c.5114T>C ( n = 9) in BRCA1 . The prevalence and spectrum of BRCA m in OC patients from Yunnan Province are different from those in other groups. BRCA status testing is advised for all OC patients, particularly those with a family history of HBOC.