title: Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series.
abstract: Prostate cancer susceptibility has previously been associated with truncating germline variants in the gene TP53AIP1 (tumor protein p53 regulated apoptosis inducing protein 1). For two apparently recurrent mutations (p.Q22fs and p.S32X) a remarkable OR of 5.1 was reported for prostate cancer risk. Since these findings have not been validated so far, we genotyped p.Q22fs and p.S32X in two German series with a total of 1,207 prostate cancer cases and 1,495 controls. The truncating variants were not significantly associated with prostate cancer in none of the two cohorts, nor in the combined analysis [odds ratio (OR) = 1.16; 95% confidence interval (CI 95%) = 0.62-2.15; p = 0.66]. Carriers showed no significant differences in family history of prostate cancer, age at diagnosis, Gleason score or PSA at diagnosis when compared to non-carrier prostate cancer cases. The large sample size of the combined cohort rejects a high-risk effect greater than 2.2 and indicates a limited role of TP53AIP1 in prostate cancer predisposition.
authors.affiliation: Department of Urology, University Hospital Ulm, Ulm, Germany.
authors.forename: Manuel
authors.initials: M
authors.lastname: Luedeke
authors.forename: Irina
authors.initials: I
authors.lastname: Coinac
authors.forename: Carmen M
authors.initials: CM
authors.lastname: Linnert
authors.forename: Natalia
authors.initials: N
authors.lastname: Bogdanova
authors.forename: Antje E
authors.initials: AE
authors.lastname: Rinckleb
authors.forename: Mark
authors.initials: M
authors.lastname: Schrader
authors.forename: Walther
authors.initials: W
authors.lastname: Vogel
authors.forename: Josef
authors.initials: J
authors.lastname: Hoegel
authors.forename: Andreas
authors.initials: A
authors.lastname: Meyer
authors.forename: Thilo
authors.initials: T
authors.lastname: Dörk
authors.forename: Christiane
authors.initials: C
authors.lastname: Maier
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D005858:Germany; D006801:Humans; D008297:Male; D011471:Prostatic Neoplasms / Q000453:epidemiology* / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53