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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