The aim of this study was to investigate the diagnostic value of BRCA1/2 promoter methylation in distinguishing breast carcinomas from BRCA1 and BRCA2 germline mutation carriers (BRCA1/2-related breast carcinomas) and sporadic breast carcinomas using a recently developed BRCA methylation MS-MLPA assay. The gene discussed is BRCA2; the disease is breast carcinoma.