Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.

ABSTRACT:

Background

Previous studies suggest that polygenic risk scores (PRSs) may improve melanoma risk stratification. However, there has been limited independent validation of PRS-based risk prediction, particularly assessment of calibration (comparing predicted to observed risks).

Objectives

To evaluate PRS-based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry.

Methods

We analysed invasive melanoma incidence in the UK Biobank (UKB; n = 395 647, 1651 cases) and a case-cohort nested within the Melbourne Collaborative Cohort Study (MCCS, Australia; n = 4765, 303 cases). Three PRSs were evaluated: 68 single-nucleotide polymorphisms (SNPs) at 54 loci from a 2020 meta-analysis (PRS68), 50 SNPs significant in the 2020 meta-analysis excludi

SUBMITTER: Steinberg J 

PROVIDER: S-EPMC9545863 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature