SynthesisThe British journal of dermatology2022
Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.
Synthesis in The British journal of dermatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Conjunctival Ultraviolet Autofluorescence: A Systematic Review of Factors Affecting Observed Ocular Damage.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026Pooled it
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- Multiple primary and familial melanoma as distinct high-risk phenotypes: a retrospective cohort study.Frontiers in genetics · 2026Article
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.International journal of molecular sciences · 2025Article
- Association of Inherited Genetic Variants with Multiple Primary Melanoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Global, regional, and national trends in the burden of melanoma and non-melanoma skin cancer: insights from the global burden of disease study 1990-2021.Scientific reports · 2025Article
- The role of polygenic risk scores in breast cancer risk perception and decision-making.Journal of community genetics · 2023Article
- Polygenic scores in cancer.Nature reviews. Cancer · 2023Review
- Acceptability and appropriateness of a risk-tailored organised melanoma screening program: Qualitative interviews with key informants.PloS one · 2023Article
- Polygenic risk scores for melanoma: a stepwise process towards clinical implementation.The British journal of dermatology · 2022Article
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Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundPrevious 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).
objectivesTo evaluate PRS-based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry.
methodsWe 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 excluding UKB (PRS50) and 45 SNPs at 21 loci known in 2018 (PRS45). Ten-year melanoma risks were calculated from population-level cancer registry data by age group and sex, with and without PRS adjustment.
resultsPredicted absolute melanoma risks based on age and sex alone underestimated melanoma incidence in the UKB [ratio of expected/observed cases: E/O = 0·65, 95% confidence interval (CI) 0·62-0·68] and MCCS (E/O = 0·63, 95% CI 0·56-0·72). For UKB, calibration was improved by PRS adjustment, with PRS50-adjusted risks E/O = 0·91, 95% CI 0·87-0·95. The discriminative ability for PRS68- and PRS50-adjusted absolute risks was higher than for risks based on age and sex alone (Δ area under the curve 0·07-0·10, P < 0·0001), and higher than for PRS45-adjusted risks (Δ area under the curve 0·02-0·04, P < 0·001).
conclusionsA PRS derived from a larger, more diverse meta-analysis improves risk prediction compared with an earlier PRS, and might help tailor melanoma prevention and early detection strategies to different risk levels. Recalibration of absolute risks may be necessary for application to specific populations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.