Abstract
RNASEL (encoding ribonuclease L) has recently been proposed as a candidate for the hereditary prostate cancer (HPC1) gene. We determined that the RNASEL variant Arg462Gln has three times less enzymatic activity than the wildtype and is significantly associated with prostate cancer risk (P = 0.007). At least one copy of the mutated allele that causes this substitution is carried by nearly 60% of the men in our study. Men that are heterozygous with respect to the mutated allele have 50% greater risk of prostate cancer than non-carriers, and homozygotes have more than double the risk.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Amino Acid Substitution
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Arginine / genetics*
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Case-Control Studies
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DNA Mutational Analysis
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Endoribonucleases / genetics*
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Gene Deletion
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Gene Dosage
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Genetic Predisposition to Disease*
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Germ-Line Mutation
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Heterozygote
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Homozygote
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Humans
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Male
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Middle Aged
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Pedigree
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Point Mutation*
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Prostate-Specific Antigen / blood
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Prostatic Neoplasms / enzymology
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Prostatic Neoplasms / epidemiology
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Prostatic Neoplasms / genetics*
Substances
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Arginine
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Endoribonucleases
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2-5A-dependent ribonuclease
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Prostate-Specific Antigen