ArticleScientific reports2016
Genetic markers of pigmentation are novel risk loci for uveal melanoma.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- GWAS meta-analysis provides new insights into uveal melanoma risk.British journal of cancer · 2026Pooled it
- Evolutionary Origin of Ocular Melanoma: Associations With rs12913832 G Allele Frequency and Latitude.Cancer medicine · 2026Observational
- Genetic Background Predicts Uveal Melanoma Patients' Outcomes.Ophthalmology science · 2026Article
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- A Brief Overview of Uveal Melanoma Treatment Methods with a Focus on the Latest Advances.Journal of clinical medicine · 2025Article
- Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi.Investigative ophthalmology & visual science · 2025Article
- Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.Pigment cell & melanoma research · 2025Article
- Estimation of genetic variation in vitiligo associated genes: Population genomics perspective.BMC genomic data · 2024Article
- Worldwide Incidence of Ocular Melanoma and Correlation With Pigmentation-Related Risk Factors.Investigative ophthalmology & visual science · 2023Article
- Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1.Ophthalmology science · 2023Article
- Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.Familial cancer · 2023Article
- MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance.International journal of molecular sciences · 2022Review
- Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas.Journal of the National Cancer Institute · 2022Article
- Uveal Melanoma Metastasis.Cancers · 2021Review
- Prognostic impact of HERC2 protein and pink-eyed dilution protein in uveal melanoma.Human cell · 2020Article
- Iris Colour and the Risk of Developing Uveal Melanoma.International journal of molecular sciences · 2020Review
- HERC Ubiquitin Ligases in Cancer.Cancers · 2020Review
- Regulation of the MDM2-p53 pathway by the ubiquitin ligase HERC2.Molecular oncology · 2020Article
- Large HERCs Function as Tumor Suppressors.Frontiers in oncology · 2019Article
- Advanced choroidal melanoma with a desirable aesthetic outcome after enucleation: A case report.Oncology letters · 2018Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
While the role of genetic risk factors in the etiology of uveal melanoma (UM) has been strongly suggested, the genetic susceptibility to UM is currently vastly unexplored. Due to shared epidemiological risk factors between cutaneous melanoma (CM) and UM, in this study we have selected 28 SNPs identified as risk variants in previous genome-wide association studies on CM or CM-related host phenotypes (such as pigmentation and eye color) and tested them for association with UM risk. By logistic regression analysis of 272 UM cases and 1782 controls using an additive model, we identified five variants significantly associated with UM risk, all passing adjustment for multiple testing. The three most significantly associated variants rs12913832 (OR = 0.529, 95% CI 0.415-0.673; p = 8.47E-08), rs1129038 (OR = 0.533, 95% CI 0.419-0.678; p = 1.19E-07) and rs916977 (OR = 0.465, 95% CI 0.339-0.637; p = 3.04E-07) are correlated (r(2) > 0.5) and map at 15q12 in the region of HERC2/OCA2, which determines eye-color in the human population. Our data provides first evidence that the genetic factors associated with pigmentation traits are risk loci of UM susceptibility.
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Registered trials
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