Genetics of Prostate Cancer (PDQ®)–Health Professional Version

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Changes to This Summary (05/17/2016)

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.

Identifying Genes and Inherited Variants Associated With Prostate Cancer Risk

Added text to state that multiple studies have confirmed the association between the G84E mutation in HOXB13 and prostate cancer risk, and studies are ongoing to define the clinical role of testing for HOXB13mutations. Also added findings about G84E mutation in a study evaluating 948 unselected men scheduled for prostate biopsy (cited Schroeck et al. as reference 115). Also revised text to state that with the evolution of high-throughput sequencing technologies, there will likely be additional moderately to highly penetrant genetic mutations identified to account for subsets of hereditary prostate cancer families (cited Fitzgerald et al. as reference 116).

Genes With Potential Clinical Relevance in Prostate Cancer Risk

Added text about a study from three sites participating in the Colon Cancer Family Registry that examined 32 cases of prostate cancer in men with a documented mismatch repair gene mutation and found that the pattern of loss of protein expression was 100% concordant with the germline mutation; the relative risk of prostate cancer was highest in MSH2 mutation carriers (cited Rosty et al. as reference 43).

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.

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