BRCA1/2 In Male Breast Cancer Study

Research article

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer

Victoria M Basham1, Julian M Lipscombe1, Joanna M Ward1, Simon A Gayther2, Bruce AJ Ponder1, Douglas F Easton3, Paul DP Pharoah1

1CRC Human Cancer Genetics Group, Department of Oncology, University of Cambridge, Cambridge, UK. 2Institute for Cancer Genetics and Pharmacogenomics, Brunel University, Uxbridge, Middlesex, UK. 3CRC Genetic Epidemiology Group, Department of Public Health, University of Cambridge, Cambridge, UK.



The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast cancer in a male first-degree relative is unclear.


We have carried out a population-based study of 94 MBC cases collected in the UK. We screened genomic DNA for mutations in BRCA1 and BRCA2 and used family history data from these cases to calculate the risk of breast cancer to female relatives of MBC cases. We also estimated the contribution of BRCA1 and BRCA2 to this risk.


Nineteen cases (20%) reported a first-degree relative with breast cancer, of whom seven also had an affected second-degree relative. The breast cancer risk in female first-degree relatives was 2.4 times (95% confidence interval [CI] = 1.44.0) the risk in the general population. No BRCA1 mutation carriers were identified and five cases were found to carry a mutation in BRCA2.

Allowing for a mutation detection sensitivity frequency of 70%, the carrier frequency for BRCA2 mutations was 8% (95% CI = 319). All the mutation carriers had a family history of breast, ovarian, prostate or pancreatic cancer.

However, BRCA2 accounted for only 15% of the excess familial risk of breast cancer in female first-degree relatives.


These data suggest that other genes that confer an increased risk for both female and male breast cancer have yet to be found.

Breast Cancer Res 2002, 4: R2 2002 Basham et al., licensee BioMed Central Ltd (Print ISSN 1465-5411 | Online ISSN 1465-542X)

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