Investig Clin Urol.  2021 May;62(3):256-266. 10.4111/icu.20210124.

Polygenic risk score for genetic evaluation of prostate cancer risk in Asian populations: A narrative review

• Song SH
• Byun SS

• KMID: 2515318
• DOI: http://doi.org/10.4111/icu.20210124

Abstract

Decreasing costs of genetic testing and interest in disease inheritance has changed the landscape of cancer prediction in prostate cancer (PCa), and guidelines now include genetic testing for high-risk groups. Familial and hereditary PCa comprises approximately 20% and 5% of all PCa, respectively. Multifaceted disorders like PCa are caused by a combinatory effect of rare genes of high penetrance and smaller genetic variants of relatively lower effect size. Polygenic risk score (PRS) is a novel tool utilizing PCa-associated single nucleotide polymorphisms (SNPs) identified from genome-wide association study (GWAS) to generate an additive estimate of an individual’s lifetime genetic risk for cancer. However, most PRS are developed based on GWAS collected from mainly European populations and do not address ethnic differences in PCa genetics. This review highlights the attempts to generate a PRS tailored to Asian males including data from Korea, China, and Japan, and discuss the clinical implications for prediction of early onset and aggressive PCa.

Keyword

Multifactorial inheritance; Polygenic traits; Prostatic neoplasms