title: Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.
abstract: Genomic rearrangement occasionally affects the BRCA1/2 genes in Caucasian breast cancer patients. However, the incidence of BRCA1/2 genomic rearrangement in Asians, including the Korean population, has not been well established. Here, we investigated the contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer patients in this population. We screened for BRCA1/2 genomic rearrangement using multiplex ligation-dependent probe amplification for 122 high-risk breast cancer patients who tested negative for BRCA1/2 mutations. A novel deletion of exons 13-15 in BRCA1 was identified in one patient (0.8% occurrence frequency). Further analyses revealed that this c.4186-1593_4676-1465del might be the result of homologous recombination mediated by two Alu-elements: the AluY in intron 12, and an AluSp in intron 15. This result suggests that subsequent screening for BRCA1/2 genomic rearrangements should be considered in high-risk Korean breast cancer patients who test negative for BRCA1/2 mutations. BRCA1/2 genomic rearrangement, however, is likely to make only a small contribution to breast cancer in this population.
authors: Department of Laboratory Medicine, Seoul National University Hospital and Clinical Research Institute, Chongno-gu, Seoul 110-744, Korea.
authors: Moon-Woo
authors: MW
authors: Seong
authors: Sung Im
authors: SI
authors: Cho
authors: Dong-Young
authors: DY
authors: Noh
authors: Wonshik
authors: W
authors: Han
authors: Sung-Won
authors: SW
authors: Kim
authors: Chul-Min
authors: CM
authors: Park
authors: Hyun-Woong
authors: HW
authors: Park
authors: So Yeon
authors: SY
authors: Kim
authors: Ji Yeon
authors: JY
authors: Kim
authors: Sung Sup
authors: SS
authors: Park
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012307:Risk Factors