The spectrum of BRCA1 and BRCA2 mutations and clinicopathological characteristics in Chinese women with early-onset breast cancer.

Purpose: BRCA1/2 mutations represent a high risk of breast cancer and are related to early-onset breast cancer. However, few studies have reported the relationship between BRCA1/2 mutations and their clinical characteristics in early-onset breast cancers. This study is the first article that characterizes the risk factor profiles in Chinese patients selected by the age of onset (≤ 40 years old). We found some differences in the prevalence of germline BRCA1/2 mutations between Asian and Western countries. Methods: A total of 1371 consecutive unselected Chinese early-onset breast cancer patients were enrolled from the Fujian Medical University Union Hospital, China, and screened for germline BRCA1/2 mutations. Full-exome sequencing in next-generation sequencing technology was performed in all patients to examine BRCA1/2 mutations. Results: In our study, 25 (1.8%) and 61 (4.4%) patients were identified with BRCA1 and BRCA2 mutations, respectively, among the unselected early-onset breast cancer patients. BRCA1 mutations were associated with pregnancies (p = 0.026), and BRCA1 carriers had a higher likelihood of being HR positive (p < 0.001), HER2 negative (p < 0.001), or high grade (p = 0.002) than noncarriers. Among BRCA2 mutations, the age of onset was younger in carriers than in noncarriers (p = 0.017), and BRCA2 carriers were more likely to have lymph node metastasis (p = 0.004). HR-positive or HER2-negative patients were likely to be positive for BRCA2 mutations (p < 0.001). Overall, 14 BRCA1 mutations and 8 BRCA2 mutations were first reported in our study Conclusion: This study provided some information about the spectrum of BRCA1/2 mutations and characterized the risk factors for early-onset breast cancer in China. [ABSTRACT FROM AUTHOR]