BRCA2 germline mutations in male breast cancer patients in the Polish population

Hum Mutat. 2001;17(1):73. doi: 10.1002/1098-1004(2001)17:1<73::AID-HUMU12>3.0.CO;2-O.


Breast cancer is a rare disease in men. Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases. The present study was performed on a series of 37 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ-line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. We identified four frameshift mutations (11%) in exons 10, 11, 17 and 18, two of them were novel: 6495del3insC and 8457insA. Three missense unclassified variants (8%) of the BRCA2 gene were also identified. The frequencies of missense alterations were examined in a set of 200 chromosomes. No alteration of the AR gene was found. We did not observe much difference in clinicopathological features between carriers and non-carriers of BRCA2 mutations. Five of 37 patients (14%) had a family history of breast cancer, in one first- or second-degree relative, among the latter was one mutation carrier. The results of this study suggest that germ-line BRCA2 mutations account for rather small proportion of male breast cancer in Poland.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA2 Protein
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / genetics*
  • Frameshift Mutation
  • Genes, Tumor Suppressor / genetics
  • Genetic Carrier Screening
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense
  • Neoplasm Proteins / genetics*
  • Poland / epidemiology
  • Sequence Deletion
  • Transcription Factors / genetics*


  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors