The analysis of BARD1 in subjects with increased genetic risk of breast and/or ovarian cancer led to the identification of dozens of sequence alterations, including definitively damaging, frameshift and nonsense mutations7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30. The gene discussed is BARD1; the disease is ovarian cancer.