title: Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.
abstract: We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.
authors.affiliation: Division of Breast and Endocrine Surgery, Department of Surgery College of Medicine, University of Ulsan, Asan Medical Center, 388-1 Pungnap-dong, Songpa-gu, Seoul, 138-736, Korea.
authors.forename: Ja Young
authors.initials: JY
authors.lastname: Cho
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Cho
authors.forename: Sei Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Su-Youn
authors.initials: SY
authors.lastname: Choi
authors.forename: Inkyung
authors.initials: I
authors.lastname: Shin
authors.forename: Hyun Gyu
authors.initials: HG
authors.lastname: Park
authors.forename: Jong Won
authors.initials: JW
authors.lastname: Lee
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Kim
authors.forename: Jong Han
authors.initials: JH
authors.lastname: Yu
authors.forename: Beom Seok
authors.initials: BS
authors.lastname: Ko
authors.forename: Bo Kyung
authors.initials: BK
authors.lastname: Ku
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Son
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005091:Exons; D005260:Female; D015321:Gene Rearrangement; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D010051:Ovarian Neoplasms / Q000235:genetics*; D056910:Republic of Korea; D012189:Retrospective Studies; D017384:Sequence Deletion