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

Abstract：

BACKGROUND: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. METHODS: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. RESULTS: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] = 1.4-4.0) 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 = 3-19). 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. CONCLUSION:These data suggest that other genes that confer an increased risk for both female and male breast cancer have yet to be found.

journal_name

Breast Cancer Res

journal_title

Breast cancer research : BCR

authors

Basham VM,Lipscombe JM,Ward JM,Gayther SA,Ponder BA,Easton DF,Pharoah PD

doi

10.1186/bcr419

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

R2

issue

1

eissn

1465-5411

issn

1465-542X

journal_volume

4

pub_type

杂志文章

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