Prostate Cancer, Hereditary, 14

For a general discussion of hereditary prostate cancer, see 176807.

Mapping

In a large genomewide association study (GWAS) of prostate cancer, Thomas et al. (2008) detected a single-nucleotide polymorphism (SNP) on chromosome 11q13, rs10896449, the G allele of which was significantly associated with prostate cancer risk (p = 1.76 x 10(-9)). The rs10896449 SNP is located 67 kb upstream of a gene overexpressed in myeloma, MYEOV (605625).

Eeles et al. (2008) conducted a genomewide association study (GWAS) using blood DNA samples from 1,854 individuals with clinically detected prostate cancer diagnosed at or before the age of 60 years or with a family history of disease, and 1,894 population-screened controls with a low prostate-specific antigen (PSA) concentration (less than 0.5 ng/ml). They analyzed these samples for 541,129 SNPs using the Illumina Infinium platform. Initial putative associations were confirmed using a further 3,268 cases and 3,366 controls. Eeles et al. (2008) identified a SNP on chromosome 11, rs7931342, that was significantly associated with prostate cancer risk (p = 1.7 x 10(-12)). They described the region on chromosome 11 in which the SNP rs7931342 is located as 'a gene desert.'

In a prostate cancer genomewide association follow-up study, Gudmundsson et al. (2009) refined a previous association signal on 11q13 with rs11228565A (odds ratio = 1.23, p = 6.7 x 10(-12)). In a multivariate analysis using 22 prostate cancer risk variants typed in the Icelandic population, Gudmundsson et al. (2009) estimated that carriers in the top 1.3% of the risk distribution are at 2.5 times greater risk of developing the disease than members of the general population.