The incidence of SNVs and indels within 167 amplicons covering the BRCA1 and BRCA2 exons was tested using the Ion Torrent PGM sequencer in 31 (a training set) and 512 women with breast cancer or ovarian cancer newly diagnosed before the age of 50 years who were positive and negative for BRCA1/2 mutations, respectively, as determined by targeted genotyping. Here, BRCA1 is linked to ovarian carcinoma.