Marshall et al. [41] presented a de novo BRCA2 mutation (c.5301insA) in a 35-year-old woman with breast cancer and no strong family history of disease, meanwhile Diez et al. [37] identified a novel de novo BRCA2 mutation (c.51dupA) in a patient with early-onset bilateral breast cancer and no family history of disease, also located in the paternal allele. The gene discussed is BRCA2; the disease is breast carcinoma.