Thus far, few studies have suggested that putative founder mutations of BRCA1 and BRCA2 might exist in Chinese women at a high risk for breast cancer, such as the c.981delAT and c.5470_5477del8 mutations in BRCA1 and the c.3109C > T, c.7436_7805del370 and c.9097_9098insA mutations in BRCA2 [9, 10, 12]. The gene discussed is BRCA1; the disease is breast cancer.