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HOXB13, RFX6 and prostate cancer risk

Nature Genetics volume 46, pages 94–95 (2014)Cite this article

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A new study shows that HOXB13 is preferentially recruited to the risk allele of a prostate cancer–associated SNP, enhancing the expression of RFX6, a driver of prostate cancer cell migration and predictor of disease progression. The work illustrates how a single risk locus contributes both to prostate cancer incidence and, through functional follow-up, to disease progression.

Genome-wide association studies have identified a large number of SNPs conferring prostate cancer risk. Cumulatively, these variants are estimated to account for up to 40% of total genetic risk. However, individual effect sizes are modest, and there has consequently been an increased focus on dissecting the functional impact of disease-associated SNPs1. Because most risk-associated variants do not lie within genes, there is great interest in determining how variant status affects gene regulation, with many disease-associated SNPs believed to lie within enhancers. On page 126 of this issue, Gong-Hong Wei, Jussi Taipale and colleagues2 report a series of experiments to define the functional impact of a variant at 6q22 associated with prostate cancer susceptibility. Their study provides insights into the mechanisms underlying the association of this locus with disease and illustrates the power of translating genetic risk data into functional readouts.

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Authors and Affiliations

  1. and with the Departments of Cancer Prevention and Urology, Ian G. Mills is in the Prostate Cancer Research Group, Centre for Molecular Medicine Norway (NCMM), University of Oslo and Oslo University Hospitals, Oslo, Norway, Institute of Cancer Research and Oslo University Hospitals, Oslo, Norway.,

    Ian G Mills

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  1. Ian G Mills
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Correspondence to Ian G Mills.

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The author declares no competing financial interests.

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Mills, I. HOXB13, RFX6 and prostate cancer risk. Nat Genet 46, 94–95 (2014). https://doi.org/10.1038/ng.2881

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