Prostate Cancer, Hereditary, 12

A number sign (#) is used with this entry because of evidence that prostate cancer is associated with variation in the EHBP1 gene (609922) on chromosome 2p15.

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

Mapping

Gudmundsson et al. (2008) conducted a genomewide single-nucleotide polymorphism (SNP) association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. They identified a novel variant that was associated with prostate cancer: the A allele of rs721048 on 2p15 (odds ratios (OR) = 1.15, p = 7.7 x 10(-9)). The SNP rs721048 is located within one of the introns in the EHBP1 gene (609922.0001), which has been implicated in endocytic trafficking. RT-PCR analysis detected expression of EHBP1 in several different tissue libraries, including those derived from the prostate. The rs721048 A allele showed a significantly stronger association with more aggressive forms of the disease.