ArticleThe Journal of investigative dermatology2018
Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.
Article in The Journal of investigative dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 5 of them syntheses that pooled it.
What it found
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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.
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Who cites it
34 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.Journal of translational medicine · 2022Pooled it
- Role of Polygenic Risk Score in Cancer Precision Medicine of Non-European Populations: A Systematic Review.Current oncology (Toronto, Ont.) · 2022Pooled 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
- Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Development and Preliminary Psychometric Evaluation of a Melanoma Risk, Knowledge and Protective Behavior Questionnaire for Serbian Patients.Healthcare (Basel, Switzerland) · 2026Article
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- Compliance of Dermatology Screening Visits Among Patients With Skin Cancer-Predisposing Pathogenic Variants.JEADV clinical practice · 2026Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Standard Dermatoscope Images vs an Autonomous Total Body Photography and Dermoscopic Imaging Device.JAMA dermatology · 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
- Evaluating an approach for communicating integrated risk scores for melanoma.European journal of human genetics : EJHG · 2025Article
- The Level of Agreement between Self-Assessments and Examiner Assessments of Melanocytic Nevus Counts: Findings from an Evaluation of 4548 Double Assessments.Current oncology (Toronto, Ont.) · 2024Article
- 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
- 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
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses. Logistic regression models were adjusted for age, sex, center, and ancestry. Adding the polygenic risk score to a model with traditional risk factors increased the area under the receiver operating characteristic curve (AUC) by 2.3% (P = 0.003) for Australia and by 2.8% (P = 0.002) for Leeds. Gene variants in the pigmentation pathway, particularly MC1R, were responsible for most of the incremental improvement. In a cross-tabulation of polygenic by traditional tertile risk scores, 59% (Australia) and 49% (Leeds) of participants were categorized in the same (concordant) tertile. Of participants with low traditional risk, 9% (Australia) and 21% (Leeds) had high polygenic risk. Testing of genomic variants can identify people who are susceptible to melanoma despite not having a traditional phenotypic risk profile.
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