Journal article
Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E
RJ MacInnis, G Severi, L Baglietto, JG Dowty, MA Jenkins, MC Southey, JL Hopper, GG Giles
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2013
Abstract
The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20-fold increased risk could be misleading. Population-based family studies can be more informative for estimating risks for rare variants, therefore, we screened for mutations in an Australian population-based series of early-onset prostate cancer cases (probands). We found that 19 of 1,384 (1.4%) probands carried the missense mutation, and of these, six (32%) had a family history of prostate cancer. We tested the 22 relatives of carriers diagn..
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Funding Acknowledgements
The work was supported largely by infrastructure and core funding provided by Cancer Council Victoria. Additional support was provided by Tattersall's charitable programme, The Whitten Foundation, PricewaterhouseCoopers Australia charitable programme and by grants from the National Health and Medical Research Council. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.