title: BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.
abstract: We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.
authors.affiliation: Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, South Korea.
authors.forename: Sei Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Son
authors.forename: Kyung-Sik
authors.initials: KS
authors.lastname: Yoon
authors.forename: Dong-Young
authors.initials: DY
authors.lastname: Noh
authors.forename: Wonshik
authors.initials: W
authors.lastname: Han
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Eun Sook
authors.initials: ES
authors.lastname: Lee
authors.forename: Hai-Lin
authors.initials: HL
authors.lastname: Park
authors.forename: Young Joon
authors.initials: YJ
authors.lastname: Hong
authors.forename: Jae Jin
authors.initials: JJ
authors.lastname: Choi
authors.forename: Seo Yun
authors.initials: SY
authors.lastname: Moon
authors.forename: Mi Jeong
authors.initials: MJ
authors.lastname: Kim
authors.forename: Kye Hyun
authors.initials: KH
authors.lastname: Kim
authors.forename: Beom Seok
authors.initials: BS
authors.lastname: Kwak
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Cho
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007723:Korea; D016366:Open Reading Frames; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein