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Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study

 Joo Heung Kim  ;  Sunggyun Park  ;  Hyung Seok Park  ;  Ji Soo Park  ;  Seung-Tae Lee  ;  Sung-Won Kim  ;  Jong Won Lee  ;  Min Hyuk Lee  ;  Sue K Park  ;  Woo-Chul Noh  ;  Doo Ho Choi  ;  Wonshik Han  ;  Sung Hoo Jung 
 SCIENTIFIC REPORTS, Vol.11(1) : 8485, 2021-04 
Journal Title
Issue Date
Genetic testing for BRCA1 and BRCA2 is crucial in diagnosing hereditary breast and ovarian cancer syndromes and has increased with the development of multigene panel tests. However, results classified as variants of uncertain significance (VUS) present challenges to clinicians in attempting to choose an appropriate management plans. We reviewed a total of 676 breast cancer patients included in the Korean Hereditary Breast Cancer (KOHBRA) study with a VUS on BRCA mutation tests between November 2007 and April 2013. These results were compared to the ClinVar database. We calculated the incidence and odds ratios for these variants using the Korean Reference Genome Database. A total of 58 and 91 distinct VUS in BRCA1 and BRCA2 were identified in the KOHBRA study (comprising 278 and 453 patients, respectively). A total of 27 variants in the KOHBRA study were not registered in the Single Nucleotide Polymorphism database. Among BRCA1 VUSs, 20 were reclassified as benign or likely benign, four were reclassified as pathogenic or likely pathogenic, and eight remained as VUSs according to the ClinVar database. Of the BRCA2 VUSs, 25 were reclassified as benign or likely benign, two were reclassified as pathogenic or likely pathogenic, and 33 remained as VUS according to the ClinVar database. There were 12 variants with conflicting interpretations of pathogenicity for BRCA1 and 18 for BRCA2. Among them, p.Leu1780Pro showed a particularly high odds ratio. Six pathogenic variants and one conflicting variant identified using ClinVar could be reclassified as pathogenic variants in this study. Using updated ClinVar information and calculating odds ratios can be helpful when reclassifying VUSs in BRCA1/2.
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1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Joo Heung(김주흥) ORCID logo https://orcid.org/0000-0002-0417-8434
Park, Hyung Seok(박형석) ORCID logo https://orcid.org/0000-0001-5322-6036
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
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