The BRCA1 variant c.5406+2T>C described herein was found in a 69-year-old woman, investigated for BRCA mutational status because she was affected by breast cancer (breast cancer onset age: 60 years), and because other tumors, including breast cancer, were present in her family, which suggested the presence of an HBOC syndrome (Figure 1a). The gene discussed is BRCA1; the disease is breast cancer.