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Genetics of Prostate Cancer (PDQ®)

Health Professional Version
Last Modified: 05/31/2013

Changes to This Summary (05/31/2013)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Genes With Potential Clinical Relevance in Prostate Cancer Risk

Added text to state that estimates derived from the Breast Cancer Linkage Consortium may be overestimated because these data are generated from a highly select population of families ascertained for significant evidence of risk for breast and ovarian cancer and suitability for linkage analysis. Also added text to state that the clinical validity and utility of BRCA testing solely based on evidence of hereditary prostate cancer (HPC) susceptibility has not been established.

Added Table 4, Case-Control Studies in Varied Populations of BRCA1 and BRCA2 and Prostate Cancer Risk.

Added text about an independent cohort that validated the association between the G84E variant in HOXB13 and prostate cancer (cited Gudmundsson et al. as reference 37).

Methods of Prostate Cancer Genetic Research

Added Wei et al. as reference 34.

Added Table 9, Case-Control Studies in Genes With Some Association With Prostate Cancer Risk.

Added text about case-control studies that assessed site-specific prostate cancer susceptibility in EMSY, KLF6, AMACR, NBS1, and CHEK2 genes. Also added text to state that the clinical validity and utility of genetic testing for any of these genes based solely on evidence of HPC susceptibility has not been established.

The Admixture Mapping subsection was extensively revised.

Revised Table 10, Prostate Cancer Susceptibility Loci Identified Through Genome-wide Association Studies (GWAS), to include several single nucleotide polymorphisms (SNPs) at chromosomal locus 17q12 (cited Berndt et al. as reference 150).

Added text to state that the authors of a study estimated that the contribution of GWAS polymorphisms in determining the risk of developing prostate cancer will be modest, even as meta-analyses or larger studies uncover additional “common” risk alleles (cited Park et al. as reference 155).

Added text about a consortium that performed whole-genome sequencing of 2,500 Icelanders and identified approximately 32.5 million variants, including millions of rare variants (carried by <1% of the population); significant associations with prostate cancer were observed for two rare 8q24 SNPs and the minor allele of rs188140481 (cited Gudmundsson et al. as reference 156).

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ NCI's Comprehensive Cancer Database pages.