title: RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.
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.
authors.affiliation: Department of Cancer Biology, ND50, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA. caseyg@ccf.org
authors.forename: Graham
authors.initials: G
authors.lastname: Casey
authors.forename: Phillippa J
authors.initials: PJ
authors.lastname: Neville
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Plummer
authors.forename: Ying
authors.initials: Y
authors.lastname: Xiang
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Krumroy
authors.forename: Eric A
authors.initials: EA
authors.lastname: Klein
authors.forename: William J
authors.initials: WJ
authors.lastname: Catalona
authors.forename: Nina
authors.initials: N
authors.lastname: Nupponen
authors.forename: John D
authors.initials: JD
authors.lastname: Carpten
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Trent
authors.forename: Robert H
authors.initials: RH
authors.lastname: Silverman
authors.forename: John S
authors.initials: JS
authors.lastname: Witte
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004722:Endoribonucleases / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D017430:Prostate-Specific Antigen / Q000097:blood; D011471:Prostatic Neoplasms / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*
chemical_list: D001120:Arginine; D004722:Endoribonucleases; C031956:2-5A-dependent ribonuclease; D017430:Prostate-Specific Antigen