Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel

Mutation in BRCA1/BRCA2 genes accounts for 20% of familial breast cancers, 5% to 10% of which may be due to other less penetrant genes which are still incompletely studied. Herein, a four-gene panel was used to examine the prevalence of BRCA1, BRCA2, TP53, and PTEN in hereditary breast and ovarian cancers in Southern Chinese population. In this cohort, 948 high-risk breast and/or ovarian patients were recruited for genetic screening by next-generation sequencing (NGS). The performance of our NGS pipeline was evaluated with 80 Sanger-validated known mutations and eight negative cases.

Source: Journal of Molecular Diagnostics - May 5, 2016 Category: Pathology Authors: Ava Kwong, Vivian Y. Shin, Chun Hang Au, Fian B.F. Law, Dona N. Ho, Bui K. Ip, Anthony T.C. Wong, Silvia S. Lau, Rene M.Y. To, Gigi Choy, James M. Ford, Edmond S.K. Ma, Tsun L. Chan Tags: Regular Article Source Type: research