ArticlePloS one2020
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Unique Features of Melanoma Risk and Diagnosis in Red-Haired Populations.International journal of molecular sciences · 2026Review
- A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.Pigment cell & melanoma research · 2026Article
- Integrating multi-omics data to resolve patterns of ion channel regulation in melanoma and predict tumor treatment response.Clinical and experimental medicine · 2025Article
- Identification of prognostic biomarkers associated with T and melanoma cell subpopulations in melanoma through integrating machine learning and multiomics.Discover oncology · 2025Article
- Current Insights into the Role of UV Radiation-Induced Oxidative Stress in Melanoma Pathogenesis.International journal of molecular sciences · 2024Review
- Amelanotic Melanoma-Biochemical and Molecular Induction Pathways.International journal of molecular sciences · 2024Review
- The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.International journal of molecular sciences · 2024Article
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature.Circulation · 2022Article
- A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Human mutation · 2021Article
- On Naevi and Melanomas: Two Sides of the Same Coin?Frontiers in medicine · 2021Article
- The Future of Precision Prevention for Advanced Melanoma.Frontiers in medicine · 2021Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. Exome sequencing was available for 28 individuals with amelanotic/hypomelanotic melanoma and 303 individuals with pigmented melanoma, which were compared to whole exome data from 1144 Australian controls. Microarray genotyping was available for a further 17 amelanotic/hypomelanotic melanoma, 86 pigmented melanoma, 147 melanoma cases (pigmentation unknown) and 652 unaffected controls. Rare deleterious variants in TYR/OCA1 were more common in amelanotic/hypomelanotic melanoma cases than pigmented melanoma cases (set mixed model association tests P = 0.0088). The OCA2 hypomorphic allele p.V443I was more common in melanoma cases (1.8%) than controls (1.0%, X2 P = 0.02), and more so in amelanotic/hypomelanotic melanoma (4.4%, X2 P = 0.007). No amelanotic/hypomelanotic melanoma cases carried an eye and skin darkening haplotype of OCA2 (including rs7174027), present in 7.1% of pigmented melanoma cases (P = 0.0005) and 9.4% controls. Variants in TYR and OCA2 may play a role in amelanotic/hypomelanotic melanoma susceptibility. We suggest that somatic loss of function at these loci could contribute to the loss of tumor pigmentation, consistent with this we found a higher rate of somatic mutation in TYR/OCA2 in amelanotic/hypomelanotic melanoma vs pigmented melanoma samples (28.6% vs 3.0%; P = 0.021) from The Cancer Genome Atlas Skin Cutaneous Melanoma collection.
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