Polygenic risk score in prostate cancer

Abstract

Purpose of reviewThis study was conducted in order to review the outcomes regarding polygenic risk score (PRS) in prediction of prostate cancer (PCa). With the increasing proficiency of genetic analysis, assessment of PRS for prediction of PCa has been performed in numerous studies. Genetic risk prediction models for PCa that include hundreds to thousands of independent risk-associated variants are under development. For estimation of additive effect of multiple variants, the number of risk alleles carried by an individual is summed, and each variant is weighted according to its estimated effect size for generation of a PRS.Recent findingsCurrently, regarding the accuracy of PRS alone, PCa detection rate ranged from 0.56 to 0.67. A higher rate of accuracy of 0.866–0.880 was observed for other models combining PRS with established clinical markers. The results of PRS from Asian populations showed a level of accuracy that is somewhat low compared with values from Western populations (0.63–0.67); however, recent results from Asian cohorts were similar to that of Western counterparts. Here, we review current PRS literature and examine the clinical utility of PRS for prediction of PCa.SummaryEmerging data from several studies regarding PRS in PCa could be the solution to adding predictive value to PCa risk estimation. Although commercial markers are available, development of a large-scale, well validated PRS model should be undertaken in the near future, in order to translate hypothetical scenarios to actual clinical practice.

Association of Genetic Risk for Age-Related Macular Degeneration with Morphological Features of the Retinal Microvascular Network

“…These artifacts are less relevant for smaller areas of interest, such as the foveal avascular zone (3 mm × 3 mm scans), but become critical when evaluating larger areas like the whole perifoveal macula (9 mm × 9 mm or 12 mm × 12 mm scans). The study conducted by Wicklein et al has emphasized the importance of confirming accurate centration in every OCTA image to account for potential technical impacts on quantitative measures [36]. During our study, a panel of experts verified the correctness of the central positioning of the scanning frame in relation to the avascular zone or central neovascularization.…”

“…PRS is of interest to researchers in relation to many diseases, and, due to the polygenic basis of many diseases, it is used as an important indicator in numerous scientific studies in many specializations [36,[40][41][42]. PRS in the group presented is described in our previous publications, where the detailed genetic testing process is described [30].…”

Polygenic Risk Score in Predicting Esophageal, Oropharyngeal, and Hypopharynx Cancer Risk among Taiwanese Population

“…Recently, the concept of the polygenic risk score (PRS) has been introduced and has been considered as a composite score that incorporates the presence or absence of multiple genetic variants associated with particular cancers [5]. It has begun to be used as a prediction factor for different cancers, such as prostate [6], lung [7], breast [8], and colorectal cancer [9].…”

A polygenetic risk score combined with environmental factors better predict susceptibility to hepatocellular carcinoma in Chinese population

“…Composite polygenic scores could summarize risk variants from associated loci into a single number: either a weighted genetic risk score (wGRS) or a polygenic risk score (PRS). wGRS and PRS can make a useful contribution to identifying individuals at risk for many disorders such as colorectal cancer, 9 liver cirrhosis, 10 prostate cancer 11 and lung cancer, 12 thereby optimizing treatment and improving prognosis. For HCC, previous studies have established wGRS or PRS based on genetic variants in Western populations 13,14 .…”