SynthesisHuman molecular genetics2019
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
Synthesis in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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
40 citing papers in PubMed, 4 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.Communications biology · 2024Pooled it
- Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights.European urology · 2023Pooled it
- Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.Nature genetics · 2022Pooled it
- Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.Communications biology · 2022Pooled it
- Genetic and molecular evidence linking CTSH to Alzheimer's disease pathophysiology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Deep learning aging marker from retinal images unveils sex-specific clinical and genetic signatures.Nature communications · 2026Article
- Multimodal Analysis of Aggressive Multifocal Cutaneous Squamous Cell Carcinoma Associated with a Germline COL6A3 Truncating Variant: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Novel soluble bazedoxifene formulation gains antiproliferative and migrastatic effect in squamous cell carcinoma cells.Scientific reports · 2026Article
- Functional characterization of a multi-cancer risk locus on chromosome band 2q33.1 nearbioRxiv : the preprint server for biology · 2026Article
- Residential ambient ultraviolet B and ultraviolet A and incidence of keratinocyte carcinoma in the nationwide US Radiologic Technologists cohort.The British journal of dermatology · 2025Article
- Transcriptomic Profile of Oral Cancer Lesions: A Proof-of-Concept Pilot Study of FFPE Tissue Sections.International journal of molecular sciences · 2025Article
- Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.Nature genetics · 2024Article
- Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- CoPheScan: phenome-wide association studies accounting for linkage disequilibrium.Nature communications · 2024Article
- Article
- PTGES2 and RNASET2 identified as novel potential biomarkers and therapeutic targets for basal cell carcinoma: insights from proteome-wide mendelian randomization, colocalization, and MR-PheWAS analyses.Frontiers in pharmacology · 2024Article
- Gene-Environment Analyses in a UK Biobank Skin Cancer Cohort Identifies Important SNPs in DNA Repair Genes That May Help Prognosticate Disease Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.JID innovations : skin science from molecules to population health · 2023Article
- Genetic variants for smoking behaviour and risk of skin cancer.Scientific reports · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
The keratinocyte cancers (KC), basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most common cancers in fair-skinned people. KC treatment represents the second highest cancer healthcare expenditure in Australia. Increasing our understanding of the genetic architecture of KC may provide new avenues for prevention and treatment. We first conducted a series of genome-wide association studies (GWAS) of KC across three European ancestry datasets from Australia, Europe and USA, and used linkage disequilibrium (LD) Score regression (LDSC) to estimate their pairwise genetic correlations. We employed a multiple-trait approach to map genes across the combined set of KC GWAS (total N = 47 742 cases, 634 413 controls). We also performed meta-analyses of BCC and SCC separately to identify trait specific loci. We found substantial genetic correlations (generally 0.5-1) between BCC and SCC suggesting overlapping genetic risk variants. The multiple trait combined KC GWAS identified 63 independent genome-wide significant loci, 29 of which were novel. Individual separate meta-analyses of BCC and SCC identified an additional 13 novel loci not found in the combined KC analysis. Three new loci were implicated using gene-based tests. New loci included common variants in BRCA2 (distinct to known rare high penetrance cancer risk variants), and in CTLA4, a target of immunotherapy in melanoma. We found shared and trait specific genetic contributions to BCC and SCC. Considering both, we identified a total of 79 independent risk loci, 45 of which are novel.
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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.