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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
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논문 기본 정보

Type
Academic journal
Author
Hee Nam Kim (전남대학교) Shin min ho (전남대학교) Lee Ran (전남대학교) Min Ho Park (전남대학교) Sun-Seog Kweon (전남대학교)
Journal
Chonnam University Research Institute of Medical Science 전남의대학술지 전남의대학술지 제55권 제2호 KCI Accredited Journals
Published
2019.1
Pages
99 - 103 (5page)

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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
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Abstract· Keywords

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Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.
#Breast Neoplasms #Mutation #BRCA1 Protein #BRCA2 Protein

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권순석 / 2018 / Updates on cancer epidemiology in Korea, 2018 / 전남의대학술지 54(2):90~100 dbpia 민선영 / 2016 / The Basic Facts of Korean Breast Cancer in 2013: Results of a Nationwide Survey and Breast Cancer Registry Database / Journal of Breast Cancer 19(1):1~7 dbpia Miki Y / 1994 / A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 / Science 266:66~71 google schola Wooster R / 1995 / Identification of the breast cancer susceptibility gene BRCA2 / Nature 378:789~792 google schola Hall MJ / 2009 / BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer / Cancer 115:2222~2233 google schola

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