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Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers

Journal of Gynecologic Oncology 2020년 31권 6호 p.83 ~ 83
하형인, 류진선, 심효은, 공선영, 임명철,
소속 상세정보
하형인 ( Ha Hyeong-In ) - National Cancer Center Research Institute and Hospital Center for Gynecologic Cancer
류진선 ( Ryu Jin-Sun ) - National Cancer Center Research Institute Division of Translational Science
심효은 ( Shim Hyo-Eun ) - National Cancer Center Research Institute and Hospital Department of Laboratory Medicine
공선영 ( Kong Sun-Young ) - National Cancer Center Research Institute and Hospital Department of Laboratory Medicine
임명철 ( Lim Myong-Cheol ) - National Cancer Center Research Institute and Hospital Center for Gynecologic Cancer

Abstract


Objective: We investigated the proportions of and reclassified BRCA1/2 variants of unknown significance (VUS) in Korean patients with epithelial ovarian, tubal, and primary peritoneal cancers.

Methods: Data from 805 patients who underwent genetic testing for BRCA1/2 from January 1, 2006 to August 31, 2018 were included. The VUS in BRCA1/2 were reclassified using the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines.

Results: A BRCA1 pathogenic variant was found in 17.0% (137/805) of the patients, and BRCA1 VUS were found in 15.9% (128/805) of the patients. Further, 8.7% (69/805) of the patients possessed a BRCA2 pathogenic variant and 18.4% (148/805) of the patients possessed BRCA2 VUS. Fifty-three specific BRCA1 VUS were found and 20 were further reclassified as benign (n=11), likely benign (n=5), likely pathogenic (n=3), and pathogenic (n=1). The remaining 33 remained classified as VUS. For BRCA2, 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: Approximately 33.3% (36/108) of the specific BRCA1/2 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.

키워드

Genes, BRCA1; Genes, BRCA2; Ovarian Neoplasms; Genetic Testing

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SCI(E)
MEDLINE
KCI
KoreaMed
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