title: Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.
abstract: A molecular study was performed on BRCA1 and BRCA2 genes in a Cypriot family, with a history of both male and female breast cancers. Three variants were detected in the BRCA1 gene, two of which are missense mutations at nucleotide positions 1186 in exon 11 (Q356R), and 4654 in exon 15 (S1512I). The third variant is a polymorphism at position 2430 in exon 11 (771L). Similarly in the BRCA2 gene two variants were detected: a missense mutation at position 1342, exon 10 (H372N), and a polymorphism at position 3624 in exon 11 (1132K). Since these BRCA2 variants appear to be polymorphisms in the Cypriot population, we suggest that the two BRCA1 mutations, Q356R and S1512I, may be related to the breast cancer phenotype.
authors.affiliation: Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hadjisavvas
authors.forename: Adamos
authors.initials: A
authors.lastname: Adamou
authors.forename: Catherine
authors.initials: C
authors.lastname: O'Dowd Phanis
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Todd
authors.forename: Petros
authors.initials: P
authors.lastname: Kitsios
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Kyriacou
authors.forename: Christina G
authors.initials: CG
authors.lastname: Christodoulou
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis / Q000097:blood; D005190:Family; D005260:Female; D005787:Gene Frequency; D019398:Genes, BRCA1 / Q000502:physiology*; D024522:Genes, BRCA2 / Q000502:physiology; D006801:Humans; D015994:Incidence; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004273:DNA, Neoplasm