title: BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
abstract: In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a combination of fluorescent-conformation sensitive gel electrophoresis (F-CSGE) and direct sequencing. Fifty-five distinct sequence variants were detected, which included three pathogenic truncating mutations, 15 missense mutations, 16 polymorphisms, and 21 intronic variants. Twenty-six of these variants have never been previously reported and may be of Korean-specific origin. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations in sporadic breast cancer patients. Further study using a larger sample size is required to determine the merits of genetic diagnosis and counseling in breast cancer patients.
authors.affiliation: Department of Internal Medicine, Division of Hematology/Oncology, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Jae Hong
authors.initials: JH
authors.lastname: Seo
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Cho
authors.forename: Se-Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Kyung-Sik
authors.initials: KS
authors.lastname: Yoon
authors.forename: Chang-Soo
authors.initials: CS
authors.lastname: Kang
authors.forename: Hyun Mi
authors.initials: HM
authors.lastname: Cho
authors.forename: Hyeon Sook
authors.initials: HS
authors.lastname: Lee
authors.forename: Jae Jin
authors.initials: JJ
authors.lastname: Choe
authors.forename: Cheul Won
authors.initials: CW
authors.lastname: Choi
authors.forename: Byung Soo
authors.initials: BS
authors.lastname: Kim
authors.forename: Sang Won
authors.initials: SW
authors.lastname: Shin
authors.forename: Yeul Hong
authors.initials: YH
authors.lastname: Kim
authors.forename: Jun Suk
authors.initials: JS
authors.lastname: Kim
authors.forename: Gil-Soo
authors.initials: GS
authors.lastname: Son
authors.forename: Jae-Bok
authors.initials: JB
authors.lastname: Lee
authors.forename: Bum Hwan
authors.initials: BH
authors.lastname: Koo
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D030541:Databases, Genetic; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D014644:Genetic Variation; D018095:Germ-Line Mutation; D020180:Heteroduplex Analysis; D006801:Humans; D007438:Introns / Q000235:genetics; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm