Role of Polygenic Risk Score in Cancer Precision Medicine of Non-European Populations: A Systematic Review

Curr Oncol. 2022 Aug 4;29(8):5517-5530. doi: 10.3390/curroncol29080436.

Abstract

The development of new screening methods and diagnostic tests for traits, common diseases, and cancer is linked to the advent of precision genomic medicine, in which health care is individually adjusted based on a person's lifestyle, environmental influences, and genetic variants. Based on genome-wide association study (GWAS) analysis, rapid and continuing progress in the discovery of relevant single nucleotide polymorphisms (SNPs) for traits or complex diseases has increased interest in the potential application of genetic risk models for routine health practice. The polygenic risk score (PRS) estimates an individual's genetic risk of a trait or disease, calculated by employing a weighted sum of allele counts combined with non-genetic variables. However, 98.38% of PRS records held in public databases relate to the European population. Therefore, PRSs for multiethnic populations are urgently needed. We performed a systematic review to discuss the role of polygenic risk scores in advancing precision medicine for different cancer types in multiethnic non-European populations.

Keywords: cancer; multiethnic; polygenic risk score.

Publication types

  • Review
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Neoplasms* / genetics
  • Precision Medicine / methods
  • Risk Factors

Grants and funding

This research was funded by the Brazilian Ministry of Health supported by PRONON/MS (NUP-25000.023997.2018/34) entitled: “Identificação de biomarcadores para screening e detecção precoce de tumores no contexto do Sistema Único de Saúde (SUS)”. H.L.R.J., D.A.M., L.A.C.N. and J.G.D. are recipients of PRONON/MS (NUP-25000.023997.2018/34). R.M.R. is a recipient of a CNPq Productivity Fellowship.