title: BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.
abstract: Specific mutations in BRCA1 and BRCA2 genes have been identified in specific populations and ethnic groups. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast cancers in the Indonesian population. One hundred-twenty moderate to high risk breast cancer patients were tested using PCR-DGGE, and any aberrant band was sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed on all samples to detect large deletions in the two genes. Twenty-three different mutations were detected in 30 individuals, ten were deleterious mutations and 20 were "unclassified variants" with uncertain clinical consequences. Three of seven (c.2784_2875insT, p.Leu1415X and del exon 13-15) and two of four (p.Glu2183X and p.Gln2894X) deleterious mutations that were found in BRCA1 and BRCA2 respectively, are novel. Several novel, pathogenic BRCA1 and BRCA2 germline mutations are found in early onset Indonesian breast cancer patients, these may therefore be specific for the Indonesian population.
authors.affiliation: Department of Histology & Cell Biology, Faculty of Medicine, Gadjah Mada University, Jogjakarta, Indonesia.
authors.forename: Dewajani
authors.initials: D
authors.lastname: Purnomosari
authors.forename: Gerard
authors.initials: G
authors.lastname: Pals
authors.forename: Artanto
authors.initials: A
authors.lastname: Wahyono
authors.forename: Teguh
authors.initials: T
authors.lastname: Aryandono
authors.forename: Tjakra W
authors.initials: TW
authors.lastname: Manuaba
authors.forename: Samuel J
authors.initials: SJ
authors.lastname: Haryono
authors.forename: Paul J
authors.initials: PJ
authors.lastname: van Diest
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007214:Indonesia / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012307:Risk Factors
chemical_list: D004273:DNA, Neoplasm