Interestingly, we identified 3 BRCA1 mutations (c.4046_4047delinsA, c.212+3A>G and c.5335delC) by NGS, which were novel to our Chinese BRCA1/2 mutation spectrum and were only seen in ovarian cancer cases, but not in the breast cancer cases in the present cohort. This evidence concerns the gene BRCA1 and breast cancer.