21Dec 2021
Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts

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

Previous studies suggest polygenic risk scores (PRS) 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).To evaluate PRS‐based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry. We analyzed invasive melanoma incidence in UK Biobank (UKB; n=395,647; 1,651 cases) and a case‐cohort nested within the Melbourne Collaborative Cohort Study (MCCS, Australia; n=4,765; 303 cases). Three PRS were evaluated: 68 SNPs at 54 loci from a 2020 meta‐analysis (PRS68); 50 SNPs significant in the 2020 meta‐analysis excluding UKB (PRS50); 45 SNPs at 21 loci known in 2018 (PRS45).10‐year melanoma risks were calculated from population‐level cancer registry data by age group and sex, with and without PRS adjustment...

  • #dermatology

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