High detection rate for BRCA2 mutations in male breast cancer families from North West England

Fam Cancer. 2001;1(3-4):131-3. doi: 10.1023/a:1021165031643.


33 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 BRCA2 mutations. 12 pathogenic BRCA2 mutations were identified (36%) in samples from an affected family member. All mutations segregated with disease where it was possible to check. Of the 14 families fulfilling BCLC criteria, 9 (64%) had mutations whilst only 3/16 (19%) of male breast cancer patients with less significant female breast cancer family history having a mutation. All 3 families with ovarian cancer and 3 families with multiple male breast cancer cases had BRCA2 mutations. These data are a further guide to how to prioritise samples for BRCA2 mutation analysis.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA2 Protein / genetics*
  • Breast Neoplasms, Male / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Ovarian Neoplasms / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Prostatic Neoplasms / genetics


  • BRCA2 Protein
  • DNA, Neoplasm