HPC2 Variants and Screen-Detected Prostate Cancer

• Published in: American journal of human genetics Vol. 68; no. 4; pp. 912 - 917
• Main Authors: Vesprini, Danny, Nam, Robert K., Trachtenberg, John, Jewett, Michael A.S., Tavtigian, Sean V., Emami, Marjan, Ho, Minnie, Toi, Ants, Narod, Steven A.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.04.2001; University of Chicago Press; The American Society of Human Genetics
• Subjects: Adenocarcinoma - blood; Adenocarcinoma - genetics; Adenocarcinoma - pathology; Adult; Age Factors; Aged; Aged, 80 and over; Alleles; Amino Acid Substitution - genetics; Biological and medical sciences; Biopsy; Case-Control Studies; Continental Population Groups - genetics; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; Genetic Variation - genetics; Genotype; Humans; Male; Medical sciences; Middle Aged; Mutation - genetics; Neoplasm Proteins - genetics; Nephrology. Urinary tract diseases; Polymorphism, Genetic - genetics; Prostate - metabolism; Prostate - pathology; Prostate-Specific Antigen - blood; Prostatic Neoplasms - blood; Prostatic Neoplasms - diagnosis; Prostatic Neoplasms - genetics; Prostatic Neoplasms - pathology; Tumors of the urinary system; Urinary tract. Prostate gland; Human; Urinary system disease; Prostate disease; Genetic marker; Pathogenesis; Genetic variant; Biological marker; Genotype; Asymptomatic; Malignant tumor; Medical screening; Genetic determinism; Prostate specific antigen; Phenotype; Gene; Risk factor; Diagnosis; Mutation; Male genital diseases; Prostate
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/319502

Two studies have reported significant associations between susceptibility to prostate cancer and two common missense variants of the HPC2/ELAC2 gene, with estimated relative risks in the range of two- to threefold. We investigated whether these polymorphisms could be informative in the prediction of the presence of prostate cancer in men undergoing prostatic biopsy for the evaluation of an elevated serum-PSA level (⩾4.0 ng/ml). We genotyped 944 men who underwent a prostate biopsy at our institution, as well as a control population of 922 healthy, unselected women from the same population. The prevalence of the HPC2 Ala541Thr allele was similar in men with prostate cancer (6.3%), men with other prostatic conditions (6.8%), and healthy women (6.3%) ( P=.83). We conclude that HPC2 genotyping is unlikely to be a useful adjunct to PSA in the prediction of the presence of biopsy-detected prostate cancer in asymptomatic men.