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Medical News & Perspectives
February 20, 2002

Genome Analysis Yields Mutations Linked to Hereditary Prostate Cancer

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JAMA. 2002;287(7):827-828. doi:10.1001/jama.287.7.827

Washington—After a decade of scrutinizing family trees and chromosomes, a multi-institutional team has discovered two genetic mutations linked to prostate cancer. Preliminary evidence marks the defects in the RNASEL gene on chromosome 1 as responsible for just a tiny percentage of all cases. However, a bit of tantalizing data suggests that the cancer in these cases may be among the most aggressive.

"The individuals who carry the mutations seem to present with cancer that leads to poor outcomes," said John Carpten, PhD, of the National Human Genome Research Institute (NHGRI), Bethesda, Md. As lead author on a research letter, Carpten reports discovery of two mutations in RNASEL, each from a different family with an overwhelming history of prostate cancer (Nat Genet. 2002;30:181-184 and published online January 22, 2002).

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