SynthesisHuman molecular genetics2018
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Synthesis in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 4 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.Movement disorders : official journal of the Movement Disorder Society · 2023Pooled it
- Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.The British journal of dermatology · 2022Pooled it
- Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.Journal of the National Cancer Institute · 2021Pooled it
- Risk Prediction Models for Melanoma: A Systematic Review on the Heterogeneity in Model Development and Validation.International journal of environmental research and public health · 2020Pooled it
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.International journal of molecular sciences · 2025Article
- Polygenic Risk Score Improves Melanoma Risk Assessment in a Patient Cohort from the Veneto Region of Italy.Biology · 2024Article
- Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility.American journal of human genetics · 2023Article
- Inter-Rater Agreement in Assessing Risk of Bias in Melanoma Prediction Studies Using the Prediction Model Risk of Bias Assessment Tool (PROBAST): Results from a Controlled Experiment on the Effect of Specific Rater Training.Journal of clinical medicine · 2023Article
- Evaluation and Comparison of Multi-Omics Data Integration Methods for Subtyping of Cutaneous Melanoma.Biomedicines · 2022Article
- Clinical, environmental, and genetic risk factors for substance use disorders: characterizing combined effects across multiple cohorts.Molecular psychiatry · 2022Article
- Combination of Optical Biopsy with Patient Data for Improvement of Skin Tumor Identification.Diagnostics (Basel, Switzerland) · 2022Article
- Using the Prediction Model Risk of Bias Assessment Tool (PROBAST) to Evaluate Melanoma Prediction Studies.Cancers · 2022Article
- Reporting Quality of Studies Developing and Validating Melanoma Prediction Models: An Assessment Based on the TRIPOD Statement.Healthcare (Basel, Switzerland) · 2022Article
- Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.Journal of medical genetics · 2021Article
- Review
- Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity.The British journal of dermatology · 2021Article
- Disease risk scores for skin cancers.Nature communications · 2021Observational
- A penalized regression framework for building polygenic risk models based on summary statistics from genome-wide association studies and incorporating external information.Journal of the American Statistical Association · 2021Article
Corrections and comments
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Authors and funding
30 authors at 15 institutions in 7 countries.
Funding
Abstract
Melanoma heritability is among the highest for cancer and single nucleotide polymorphisms (SNPs) contribute to it. To date, only SNPs that reached statistical significance in genome-wide association studies or few candidate SNPs have been included in melanoma risk prediction models. We compared four approaches for building polygenic risk scores (PRS) using 12 874 melanoma cases and 23 203 controls from Melanoma Meta-Analysis Consortium as a training set, and newly genotyped 3102 cases and 2301 controls from the MelaNostrum consortium for validation. We estimated adjusted odds ratios (ORs) for melanoma risk using traditional melanoma risk factors and the PRS with the largest area under the receiver operator characteristics curve (AUC). We estimated absolute risks combining the PRS and other risk factors, with age- and sex-specific melanoma incidence and competing mortality rates from Italy as an example. The best PRS, including 204 SNPs (AUC = 64.4%; 95% confidence interval (CI) = 63-65.8%), developed using winner's curse estimate corrections, had a per-quintile OR = 1.35 (95% CI = 1.30-1.41), corresponding to a 3.33-fold increase comparing the 5th to the 1st PRS quintile. The AUC improvement by adding the PRS was up to 7%, depending on adjusted factors and country. The 20-year absolute risk estimates based on the PRS, nevus count and pigmentation characteristics for a 60-year-old Italian man ranged from 0.5 to 11.8% (relative risk = 26.34), indicating good separation.
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Registered trials
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.