title: BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
abstract: Mutations in the BRCA1/BRCA2 genes account for varying proportions of breast cancer families studied, and demonstrate considerable variation in mutational spectra coincident with ethnic and geographical diversity. We have screened for mutations in 17 families from Wales with two or more cases of breast cancer under age 50 and/or ovarian cancer. Eight out of 17 (47%) families had demonstrable mutations. Six out of 17 (35%) carried BRCA1 mutations and 2 out of 17 (12%) carried BRCA2 mutations. Two recurrent mutations in BRCA1 were identified, which appear to represent founder mutations in this population. These data support the existence of additional breast and ovarian cancer susceptibility genes.
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Lancaster
authors.forename: M E
authors.initials: ME
authors.lastname: Carney
authors.forename: J
authors.initials: J
authors.lastname: Gray
authors.forename: J
authors.initials: J
authors.lastname: Myring
authors.forename: C
authors.initials: C
authors.lastname: Gumbs
authors.forename: J
authors.initials: J
authors.lastname: Sampson
authors.forename: D
authors.initials: D
authors.lastname: Wheeler
authors.forename: E
authors.initials: E
authors.lastname: France
authors.forename: R
authors.initials: R
authors.lastname: Wiseman
authors.forename: P
authors.initials: P
authors.lastname: Harper
authors.forename: P A
authors.initials: PA
authors.lastname: Futreal
mesh_terms: D000328:Adult; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1 / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014852:Wales / Q000208:ethnology
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors