Germline BRCA1 mutations increase prostate cancer risk
British Journal of Cancer, 05/04/2012
Leongamornlert D et al. – This study shows evidence for an increased risk of PrCa in men who harbour germline mutations in BRCA1. This could have a significant impact on possible screening strategies and targeted treatments.
We screened 913 cases aged 36–86 years for germline BRCA1 mutation, with the study enriched for cases with an early age of onset.
We analysed the entire coding region of the BRCA1 gene using Sanger sequencing.
Multiplex ligation-dependent probe amplification was also used to assess the frequency of large rearrangements in 460 cases.
We identified 4 deleterious mutations and 45 unclassified variants (UV).
The frequency of deleterious BRCA1 mutation in this study is 0.45%; three of the mutation carriers were affected at age 65 years and one developed PrCa at 69 years.
Using previously estimated population carrier frequencies, deleterious BRCA1 mutations confer a relative risk of PrCa of ~3.75-fold, (95% confidence interval 1.02–9.6) translating to a 8.6% cumulative risk by age 65.
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