A mutation in a gene important in prostate development is associated with a higher risk of hereditary prostate cancer, particularly early-onset cancers, according to a study published in the New England Journal of Medicine (2012;366:141-149).

Charles M. Ewing, MS, of Johns Hopkins University and the James Buchanan Brady Urological Institute in Baltimore, and colleagues sequenced 202 genes in the 17q21-22 region, which has been linked to prostate cancer susceptibility, from the germline DNA of 94 unrelated men with prostate cancer from 94 families with hereditary prostate cancers linked to this chromosomal region.

The researchers found that men from four families had the G84E mutation in HOXB13, a gene important in prostate development. The mutation was present in all 18 men with prostate cancer and available DNA from these families. To confirm the relevance of this mutation in prostate cancer, they determined that the mutation was present in significantly more men with prostate cancer than without prostate cancer (1.4 vs. 0.1%). The G84E mutation was more common in men with early-onset, hereditary prostate cancers than men with late-onset, sporadic prostate cancers (3.1% vs. 0.6%).

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“The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer,” Ewing and colleagues conclude. “Although HOXB13 mutations will be identified in a minority of men with prostate cancer, rare genetic lesions can identify pathways that are found to be abnormal in more common, sporadic cases.”

One author disclosed financial ties to RainDance Technologies Inc.; two authors disclosed provisional plans to file a patent for HOXB13 variants and the management of prostate cancer.