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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1,012 - 1,021 (10page)
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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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참고문헌 (23)
참고문헌 신청
Amendola LM / 2016 / Performance of ACMG-AMP variantinterpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium / Am J Hum Ge
Chen VB / 2009 / KING(Kinemage, Next Generation) : a versatile interactive molecular and scientific visualization program / Protein Sci 18 : 2403 ~ 2409
Cheon JY / 2014 / Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come / Genome Med 6 : 121 ~
Choi DH / 2004 / Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients / J Clin Oncol 22 : 1638 ~ 1645
Domchek SM / 2013 / Multiplex genetic testing for cancer susceptibility: out on the high wire without a net / J Clin Oncol 31 : 1267 ~ 1270
Chen VB / 2009 / KING(Kinemage, Next Generation) : a versatile interactive molecular and scientific visualization program / Protein Sci 18 : 2403 ~ 2409
Cheon JY / 2014 / Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come / Genome Med 6 : 121 ~
Choi DH / 2004 / Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients / J Clin Oncol 22 : 1638 ~ 1645
Domchek SM / 2013 / Multiplex genetic testing for cancer susceptibility: out on the high wire without a net / J Clin Oncol 31 : 1267 ~ 1270
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Re-Classification of the BRCA1 C.5339T>C (p.L1780P) Variant: Clinical Evidence
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BRCA1-mutated ovarian cancer with skin metastasis: a case report
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Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening
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Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers
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