We identified BRCA1/2 small mutations in 78 (35.3%) out of 221 familial breast cancer patients using direct sequencing, or mutation scanning including F-CSGE and dHPLC followed by direct sequencing, and identified BRCA1 LGRs in 3 (2.1%) out of 143 BRCA1/2 small mutation-negative patients using MLPA (Figure 1). The gene discussed is BRCA1; the disease is breast carcinoma.