Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population

Am J Hum Genet. 1997 Feb;60(2):313-9.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • BRCA2 Protein
  • Breast Neoplasms, Male / genetics*
  • DNA Mutational Analysis
  • Exons
  • Genes, BRCA1*
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Polymorphism, Genetic
  • Retrospective Studies
  • Transcription Factors / genetics*


  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors