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

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.