ReviewThe British journal of dermatology2019
Genome-wide association studies and polygenic risk scores for skin cancer: clinically useful yet?
Review in The British journal of dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- 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
- Multimodal Analysis of Aggressive Multifocal Cutaneous Squamous Cell Carcinoma Associated with a Germline COL6A3 Truncating Variant: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Genome wide association analysis and association of genetic risk and lifestyle with upper gastrointestinal cancer among an endoscopy-screened cohort in China.Science bulletin · 2026Article
- Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.Nature communications · 2025Article
- Predicting Drug Resistance inDiagnostics (Basel, Switzerland) · 2025Article
- Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.Research square · 2024Article
- A perspective on genetic and polygenic risk scores-advances and limitations and overview of associated tools.Briefings in bioinformatics · 2024Review
- Dicing with data: the risks, benefits, tensions and tech of health data in the iToBoS project.Frontiers in digital health · 2024Article
- Patterns and cost of care according to keratinocyte cancer risk stratification in a volunteer population screening clinic: Real-world data from the TRoPICS study.The Australasian journal of dermatology · 2023Article
- Article
- Article
- The Immunogenetics of Non-melanoma Skin Cancer.Advances in experimental medicine and biology · 2022Article
- Estimating prevalence of human traits among populations from polygenic risk scores.Human genomics · 2021Article
- Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.Journal of medical genetics · 2021Article
- A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.Blood advances · 2021Article
- Review
- Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity.The British journal of dermatology · 2021Article
- Epigenetic Alterations in Keratinocyte Carcinoma.The Journal of investigative dermatology · 2021Article
- Loss of retinoic acid receptor-related receptor alpha (Rorα) promotes the progression of UV-induced cSCC.Cell death & disease · 2021Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGenome-wide association studies (GWAS) have identified thousands of susceptibility variants, although most have been associated with small individual risk estimates that offer little predictive value. However, combining multiple variants into polygenic risk scores (PRS) may be more informative. Multiple studies have developed PRS composed of GWAS-identified variants for cutaneous cancers. This review highlights data from these studies.
objectivesTo review published GWAS and PRS studies for melanoma, cutaneous squamous cell carcinoma (cSCC) and basal cell carcinoma (BCC), and discuss their potential clinical utility.
methodsWe searched PubMed and the National Human Genome Research Institute-European Bioinformatics Institute GWAS catalogue to identify relevant studies.
resultsResults from 21 GWAS (11 melanoma, 3 cSCC, 7 BCC) and 11 PRS studies are summarized. Six loci in pigmentation genes overlap between these three cancers (ASIP/RALY, IRF4, MC1R, OCA2, SLC45A2 and TYR). Additional loci overlap for cSCC/BCC and BCC/melanoma, but no other loci are shared between cSCC and melanoma. PRS for melanoma show roughly two-to-threefold increases in risk and modest improvements in risk prediction (2-7% increases). PRS are associated with twofold and threefold increases in risk of cSCC and BCC, respectively, with small improvements (2% increase) in predictive ability.
conclusionsExisting data indicate that PRS may offer small, but potentially meaningful, improvements to risk prediction. Additional research is needed to clarify the potential utility of PRS in cutaneous carcinomas. Clinical translation will require well-powered validation studies incorporating known risk factors to evaluate PRS as tools for screening. What's already known about this topic? Over 50 susceptibility loci for melanoma, basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC) have been identified in genome-wide association studies (GWAS). Polygenic risk scores (PRS) using variants identified from GWAS have also been developed for melanoma, BCC and cSCC, and investigated with respect to clinical risk prediction. What does this study add? This review provides an overview of GWAS findings and the potential clinical utility of PRS for melanoma, BCC and cSCC.
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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.