Germline sequence variants and prostate-specific antigen interpretation.

摘要

Prostate-specific antigen (PSA)2 is the primary bio-marker used to screen for prostate cancer. PSA has limited specificity as a marker, however, and it can be increased in multiple noncancerous conditions [e.g., prostatitis, benign prostatic hyperplasia (BPH)] and after prostatic manipulation (e.g., catheterization) (1 2). There is now emerging evidence that PSA concentrations may also be affected by genetic variables. Through genome-wide association studies, investigators have identified >30 single-nucleotide polymorphisms (SNPs) that are associated with prostate cancer susceptibility. Eeles et al. reported a strong association of SNPs on chromosomes 10 (rsl0993994) and 19 (rs2735839) with PSA concentration and prostate cancer risk (3). It is noteworthy that rs2735839 is located near the KLK33 (kallikrein-relatedpeptidase 3) gene on chromosome 19, which encodes PSA, potentially underlying the relationship.