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ABSTRACT: BRCA1 and BRCA2 mutations in a population-based study
of male breast cancer
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.
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.
01/01/2002; Breast Cancer Research
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 Cancer Res, 1/03

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 Annals of Oncology, 3/03

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