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Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls

 Ji Soo Park  ;  Eun Ji Nam  ;  Hyung Seok Park  ;  Jung Woo Han  ;  Jung-Yun Lee  ;  Jieun Kim  ;  Tae Il Kim  ;  Seung-Tae Lee 
 Cancer Research and Treatment, Vol.49(4) : 1012-1021, 2017 
Journal Title
 Cancer Research and Treatment 
Issue Date
ACMG standards and guidelines ; BRCA1 ; BRCA2 ; Korean ; Leu1780Pro
PURPOSE: Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be used to accurately calculate the odds ratio (OR) of genetic variants. MATERIALS AND METHODS: Using the ACMG guidelines, we reclassified BRCA1 and BRCA2 mutations and variants of unknown significance in 745 Korean patients susceptible to hereditary breast and ovarian cancer compared with 1,314 Korean population controls. RESULTS: We observed that the ORs were falsely inflated when we analyzed several variants using non-Korean population data. Our simulation indicated that the number of controls needed for the lower limit of a 95% confidence interval to exceed 1.0 varied according to the frequency of the variant in each patient group, with more than 820 controls needed for a variant existing in 1% of cases. Using a sufficient number of relevant population data, we could efficiently classify variants and identified the BRCA1 p.Leu1780Pro mutation as a possible pathogenic founder mutation in Korean patients. CONCLUSION: Our study suggests that BRCA1 p.Leu1780Pro is a novel pathogenic mutation found in Korean patients. We also determined the optimal number of relevant ethnic controls needed for accurate variant classification according to the ACMG guidelines.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김지은(Kim, Jieun)
김태일(Kim, Tae Il) ORCID logo https://orcid.org/0000-0003-4807-890X
남은지(Nam, Eun Ji)
박지수(Park, Ji Soo) ORCID logo https://orcid.org/0000-0002-0023-7740
박형석(Park, Hyung Seok) ORCID logo https://orcid.org/0000-0001-5322-6036
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이정윤(Lee, Jung-Yun) ORCID logo https://orcid.org/0000-0001-7948-1350
한정우(Han, Jung Woo) ORCID logo https://orcid.org/0000-0001-8936-1205
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