Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies

We read with great interest the study by Moran and colleagues, entitled ‘‘Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12- gene panel’’ recently published in this journal [1]. Using next generation sequencing (NGS) technologies, the authors re-assessed women affected by breast cancer who had previously tested negative for mutations in the large BRCA1 exon 11 and BRCA2 exons 10–11 by the protein truncation test (PTT). Specifically, they evaluated the prevalence of mutations in 12 breast cancer susceptibility genes, including BRCA1 and BRCA2, in 190 female breast cancer cases with a strong family history of breast cancer. Six mutations were detected in BRCA1 and BRCA2; in particular, one of these mutations (c.893_899delCAGTTGTinsTACTTCAG, p.Thr298fs) was detected in BRCA2 exon 10, previously screened by PTT. Overall, six women who had previously received a negative test result for BRCA1 and BRCA2 mutations using the PTT were found to carry pathogenic mutations in these two highpenetrance genes.