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 ofBRCA1 andBRCA2 in 135 breast and/or ovarian cancer patients. DeleteriousBRCA1 andBRCA2 mutations were detected in 10 patients (7.4%) by NGS analysis. Of these, one mutation inBRCA1 and two inBRCA2 had not been reported previously. Furthermore, aBRCA2 mutation found in a proband was also identified in two unaffected relatives. These data suggest the utility of screeningBRCA1 andBRCA2 mutations by NGS in clinical diagnosis.

Source: Molecular Genetics & Genomic Medicine - March 5, 2015 Category: Genetics & Stem Cells Authors: Yosuke Hirotsu, Hiroshi Nakagomi, Ikuko Sakamoto, Kenji Amemiya, Hitoshi Mochizuki, Masao Omata Tags: Original Article Source Type: research