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Åke Borg

Åke Borg

Principal investigator

Åke Borg

BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease


  • K Haraldsson
  • N Loman
  • Qiu-Xia Zhang
  • O Johannsson
  • Håkan Olsson
  • Åke Borg

Summary, in English

Breast cancer is a rare disease in men, affecting less than 0.1% of the male population. Two heritable gene defects have been associated with a predisposition to male breast cancer development, ie., germ-line mutations in the breast cancer susceptibility gene BRCA2 and the androgen receptor (AR) gene. In this study, the entire coding regions of BRCA2 and AR were screened for mutations in 34 consecutive male breast cancer patients. Five different truncating BRCA2 mutations were identified in 7 (21%) of the 34 cases, with all mutations being of germ-line origin. Three of the mutated cases carried the same mutation (4186delG), which has been found earlier in two Swedish families with multiple female breast cancer cases. Haplotype analysis supported a common ancestry of 4186delG. One mutation, 6503delTT, was found in a male carrying also a previously identified COOH-terminal polymorphic stop codon (Lys3326ter). No differences were seen between mutation carriers and noncarriers with respect to clinical stage and estrogen or progesterone receptor status. Mutation carriers tended to be younger at diagnosis. No germ-line AR mutations were found in the present material, but the number of AR polyglutamine repeats tended to be lower among mutation carriers. Most surprisingly, only one of the seven BRCA2 mutation carriers had a positive family history of breast cancer, suggesting a lower penetrance of some BRCA2 mutations or an influence of modifying factors for disease development in males and females. The present study implies that approximately one-fifth of all male breast cancer cases in the Swedish population are due to germ-line BRCA2 mutations.


  • Breastcancer-genetics
  • Tumor microenvironment
  • Familial Breast Cancer

Publishing year







Cancer Research





Document type

Journal article


American Association for Cancer Research Inc.


  • Cancer and Oncology


  • Aged
  • Aged, 80 and over
  • BRCA2 Protein
  • Breast Neoplasms, Male
  • DNA, Neoplasm
  • Family Health
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Proteins
  • Receptors, Androgen
  • Transcription Factors



Research group

  • Familial Breast Cancer


  • ISSN: 1538-7445