Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer

Genes Chromosomes Cancer. 1999 Jan;24(1):56-61. doi: 10.1002/(sici)1098-2264(199901)24:1<56::aid-gcc8>;2-x.


The genetic changes underlying the development and progression of male breast cancer are poorly understood. Germline BRCA2 mutations account for a significant part of male breast cancer, but the majority of patients lack a known inherited predisposition. We recently demonstrated that the progression of breast cancer in female carriers of a germline BRCA1 or BRCA2 mutation follows specific genetic pathways, distinct from each other and from sporadic breast cancer. In the present study, we performed a genome-wide survey by comparative genomic hybridization (CGH) of somatic genetic aberrations in 26 male breast cancers, including five tumors from BRCA2 mutation carriers. BRCA2 tumors exhibited a significantly higher number of chromosomal aberrations than sporadic tumors. The most common alterations in sporadic male breast cancer were +1q (38%), +8q (33%), +17q (33%), -13q (29%), and -8p (24%). In tumors from BRCA2 mutation carriers, the five most common genetic changes were +8q (100%), +20q (100%), +17q (80%), -13q (80%), and -6q (60%). The CGH results in these two groups of male breast cancers are almost identical to those identified in the corresponding sporadic and BRCA2-associated female breast cancers. The results suggest that despite substantial hormonal differences between females and males, similar genetic changes are selected for during tumor progression. Furthermore, the presence of a highly penetrant germline BRCA2 mutation apparently leads to a characteristic somatic tumor progression pathway, again shared between affected male and female mutation carriers.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Breast Neoplasms, Male / genetics*
  • Chromosome Aberrations
  • Female
  • Genetic Carrier Screening
  • Genetic Markers
  • Humans
  • Male
  • Neoplasm Proteins / genetics*
  • Nucleic Acid Hybridization
  • Transcription Factors / genetics*


  • BRCA2 Protein
  • Genetic Markers
  • Neoplasm Proteins
  • Transcription Factors