Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next‐generation sequencing

In this study, therefore, we performed next‐generation sequencing (NGS) analysis of the entire coding regions of BRCA1 and BRCA2 in 135 breast and/or ovarian cancer patients. Deleterious BRCA1 and BRCA2 mutations were detected in 10 patients (7.4%) by NGS analysis. Of these, one mutation in BRCA1 and two in BRCA2 had not been reported previously. Furthermore, a BRCA2 mutation found in a proband was also identified in two unaffected relatives. These data suggest the utility of screening BRCA1 and BRCA2 mutations by NGS in clinical diagnosis. BRCA1 and BRCA2 are tumor suppressor genes associated with the hereditary risk of breast and ovarian cancer. We analyzed both genes in 135 Japanese patients with breast and/or ovarian cancer using next‐generation sequencing (NGS) and validated by Sanger sequencing in our study and an independent laboratory, and the technique was shown to be sufficiently sensitive to detect BRCA germline mutations distributed throughout the genes. Moreover, two unaffected relatives were found to carry the identical causative BRCA2 mutation to one of the probands, indicating a role for NGS in aiding cancer prevention in such individuals.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research