title: Germline BRCA2 mutations in men with breast cancer.
abstract: Breast cancer in men is rare and is clearly due in some cases to an inherited predisposition. A total of 28 male breast cancer patients were tested for BRCA2 mutations; two frameshifts and one putative missense mutation were identified. One of the frameshifts was detected in the same position as a mutation estimated to be responsible for 40% of all male breast cancer cases in Iceland.
authors.affiliation: Imperial Cancer Research Fund, Genetic Epidemiology, St James's Hospital, Leeds, UK.
authors.forename: E
authors.initials: E
authors.lastname: Mavraki
authors.forename: I C
authors.initials: IC
authors.lastname: Gray
authors.forename: D T
authors.initials: DT
authors.lastname: Bishop
authors.forename: N K
authors.initials: NK
authors.lastname: Spurr
mesh_terms: D024682:BRCA2 Protein; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D018567:Breast Neoplasms, Male / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D014157:Transcription Factors