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Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens

Gynecologic Oncology Sep 06, 2019

Ong PY, Poon SL, Tan KT, et al. - Researchers focused on the utility of next-generation sequencing (NGS) platform to diagnose germline pathogenic mutations from tumors. Sixty cancer patients who have undergone multi-gene panel blood testing were selected and from these, archival tumors (ovarian = 26, breast = 25, others = 9) were retrieved. They extracted genomic DNA and used a NGS platform to perform sequencing for BRCA1/2. They also sequenced 41/60 specimens for 5 other genes (APC, ATM, PALB2, PTEN, TP53). Findings revealed an NGS platform as a fairly reliable tool for use in tumor testing for BRCA1/2 germline mutations. It not only enabled a correct diagnosis of more than two-thirds of pathogenic germline BRCA1/2 mutations but also offered no false positive findings. However, the nonreliability of NGS platform for diagnosing pathogenic germline mutations in genes commonly mutated in sporadic cancers, such as PTEN and TP53, was also shown.
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