2022
DOI: 10.1111/bjd.20956
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Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts*

Abstract: Summary 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… Show more

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Cited by 11 publications
(10 citation statements)
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“…20,21,23 By combining the odds ratios and frequencies of genome-wide association studies of single nucleotide polymorphisms, it is possible to generate an individual's polygenic risk score. Studies have shown that melanoma polygenic risk scores have similar risk prediction performance to models based on traditional risk factors, 24 and, when combined, they result in a modest incremental improvement in discrimination, sensitivity and specificity. 25 Further research is needed to guide the integration of sociodemographic, clinical and genomic risk factors into risk prediction models and their implementation in practice.…”
Section: Advances In Risk Assessmentmentioning
confidence: 99%
“…20,21,23 By combining the odds ratios and frequencies of genome-wide association studies of single nucleotide polymorphisms, it is possible to generate an individual's polygenic risk score. Studies have shown that melanoma polygenic risk scores have similar risk prediction performance to models based on traditional risk factors, 24 and, when combined, they result in a modest incremental improvement in discrimination, sensitivity and specificity. 25 Further research is needed to guide the integration of sociodemographic, clinical and genomic risk factors into risk prediction models and their implementation in practice.…”
Section: Advances In Risk Assessmentmentioning
confidence: 99%
“…an integrated risk model. 3 However, the overall AUCROC was still moderate at 0Á69, suggesting that for population-based screening, the tested integrated risk models are not useful. The inclusion of single-nucleotide polymorphisms beyond those that meet stringent genome-wide association study significance levels or adding traditional melanoma risk factors may be considered to boost future predictive performance.…”
mentioning
confidence: 95%
“…However, reproducibility is mentioned as an important issue in last year’s published PRS Reporting Standards (PRS‐RS) 2 . Therefore, the paper by Steinberg et al ., 3 in this issue, is an important study that evaluates three melanoma PRSs in addition to basic clinical characteristics derived from meta‐analysis in two independent large cohorts.…”
mentioning
confidence: 99%
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“…Steinberg et al (2022) [19] investigated the performance of several PRSs developed from a meta-analysis [20] and previous studies [16], and found an AUC of 0.656 for the 50-SNP when testing in the UK Biobank data. The paper by Steinberg et al (2022) [19] is the best comparison with our work (AUC = 0.639).…”
Section: Introductionmentioning
confidence: 99%