title: BRCA1/2 mutation analysis in male breast cancer families from North West England.
abstract: 64 families with a history of male breast cancer aged 60 or less or with a family history of male and female breast cancer were screened for the presence of BRCA1 and BRCA2 mutations. Seventeen pathogenic BRCA2 and four BRCA1 mutations were identified (34%) in samples from an affected family member. All but one of the mutations segregated with disease where samples were available and pedigree structure permitted. Despite high sensitivity of mutation testing only 64% of families fulfilling BCLC criteria had an identifiable pathogenic mutation. It is possible that at least some of these families may have mutations in other genes, although we found no involvement of CHEK2 1100delC.
authors.affiliation: Academic Unit of Medical Genetics, National Genetics Reference Laboratory and Regional Genetic Service, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK. Gareth.evans@cmmc.nhs.uk
authors.forename: D G R
authors.initials: DG
authors.lastname: Evans
authors.forename: Mike
authors.initials: M
authors.lastname: Bulman
authors.forename: Karen
authors.initials: K
authors.lastname: Young
authors.forename: Emma
authors.initials: E
authors.lastname: Howard
authors.forename: Stuart
authors.initials: S
authors.lastname: Bayliss
authors.forename: Andrew
authors.initials: A
authors.lastname: Wallace
authors.forename: Fiona
authors.initials: F
authors.lastname: Lalloo
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004739:England / Q000453:epidemiology; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D030342:Genetic Diseases, Inborn; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein