Reclassification of <i>BRCA1</i> and <i>BRCA2</i> variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers
Hyeong In Ha, Jin‐Sun Ryu, Hyoeun Shim, Sun‐Young Kong, Myong Cheol Lim
Abstract
OBJECTIVE: variants of unknown significance (VUS) in Korean patients with epithelial ovarian, tubal, and primary peritoneal cancers. METHODS: were reclassified using the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines. RESULTS: , 55 specific VUS were detected; among these, 14 were reclassified as benign or likely benign, and 2 were reclassified as likely pathogenic. Among the 805 patients, 195 were found to have only VUS and no pathogenic variants (PV), and 41.5% (81/195) were reclassified as benign or likely benign, and 10.3% (20/195) as pathogenic or likely pathogenic variants. CONCLUSIONS: variants analyzed in this study that were initially classified as VUS over a 13-year period were reclassified. Among these, 5.6% (6/108) were reclassified as pathogenic or likely pathogenic variants.