title: Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.
abstract: A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2. Nine (17%) of the patients had a family history of breast and/or ovarian cancer in at least one first-degree relative. A further seven (13%) of the patients reported breast/ovarian cancer in at least one second-degree relative and in no first-degree relatives. No germ-line BRCA1 mutations were found. Two male breast cancer patients (4% of the total) were found to carry novel truncating mutations in the BRCA2 gene. Only one of the two male breast cancer patients carrying a BRCA2 mutation had a family history of cancer, with one case of ovarian cancer in a first-degree relative. The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene.
authors.affiliation: CRC Human Cancer Genetics Research Group, Addenbroke's Hospital, University of Cambridge, United Kingdom. lsf20@cam.ac.uk
authors.forename: L S
authors.initials: LS
authors.lastname: Friedman
authors.forename: S A
authors.initials: SA
authors.lastname: Gayther
authors.forename: T
authors.initials: T
authors.lastname: Kurosaki
authors.forename: D
authors.initials: D
authors.lastname: Gordon
authors.forename: B
authors.initials: B
authors.lastname: Noble
authors.forename: G
authors.initials: G
authors.lastname: Casey
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: H
authors.initials: H
authors.lastname: Anton-Culver
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein; D018567:Breast Neoplasms, Male / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors