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Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure
Open accessAbstract
IMPORTANCE: Despite the unquestioned relationship of UV radiation (UVR) exposure and melanoma development, UVR-independent development of melanoma has only recently been described in mice. These findings in mice highlight the importance of the genetic background of the host and could be relevant for preventive measures in humans. OBJECTIVE: To study the role of the melanocortin-1 receptor (MC1R) and melanoma risk independently from UVR in a clinical setting. DESIGN, SETTING, AND PARTICIPANTS: Hospital-based case-control study, including genetic testing, questionnaires, and physical data (Molecular Markers of Melanoma Study data set) including 991 melanoma patients (cases) and 800 controls. MAIN OUTCOMES AND MEASURES: Association of MC1R variants and melanoma risk independent from sun exposure variables. RESULTS: The 1791 participants included 991 with a diagnosis of melanoma and 800 control patients (mean [SD] age, 59.2 [15.6] years; 50.5% male). Compared with wild-type carriers, carriers of MC1R variants were at higher melanoma risk after statistically adjusting for previous UVR exposure (represented by prior sunburns and signs of actinic skin damage identified by dermatologists), age, and sex compared with wild-type carriers (≥2 variants, OR, 2.13 [95% CI, 1.66-2.75], P < .001; P for trend <.001). After adjustment for sex, age, sunburns in the past, and signs of actinic skin damage, the associations remained significant (OR, 1.65 [95% CI, 1.02-2.67] for R/R, OR, 2.63 [95% CI, 1.82-3.81] for R/r; OR, 1.83 [95% CI, 1.36-2.48] for R/0; and OR, 1.50 [95% CI, 1.01-2.21] for r/r, with P values ranging from <.001 to .04 when adjusted for facial actinic skin damage; OR, 2.36 [95% CI, 1.62-3.43] for R/r; and OR, 1.47 [95% CI, 1.08-1.99] for R/0 with P values ranging from <.001 to .01 when adjusted for dorsal actinic skin damage; and OR, 2.54 [95% CI, 1.76-3.67] for R/r, OR, 1.75 [95% CI, 1.30-2.36] for R/0; and OR, 1.50 [95% CI, 1.02-2.20] for r/r with P values ranging from <.001 to .04 when adjusted for actinic skin damage on the hands). CONCLUSIONS AND RELEVANCE: Carriers of MC1R variants were at increased melanoma risk independent of their sun exposure. Further studies are required to elucidate the causes of melanoma development in these individuals.
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Pheomelanins have been implicated in UV-radiation-independent carcinogenic contributions to melanomagenesis by inducing oxidative DNA damage.
“Pheomelanins have also been implicated in UV-radiation-independent carcinogenic contributions to melanomagenesis by inducing oxidative DNA damage [65,66,67].”
From “Fifty Shades” of Black and Red or How Carboxyl Groups Fine Tune Eumelanin and Pheomelanin Properties (2016) · cites this paper as [66]
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Metadata
- Authors
- Wendt, J., Rauscher, S., Burgstaller-Muehlbacher, S., Fae, I., Fischer, G., Pehamberger, H., & Okamoto, I.
- Affiliations
- Medical University of Vienna (AT)
- Scripps Research Institute (US)
- Division of Blood Group Serology, Department of Transfusion Medicine, Medical University of Vienna, Vienna, Austria
- Corresponding author
- Wendt, Judith
- Venue
- JAMA Dermatology
- Publisher
- American Medical Association (AMA)
- Published
- 2016-07-01
- Volume
- 152
- Issue
- 7
- Pages
- 776
- ISSN
- 2168-6068 (ISSN-L)
- OpenAlex
- W2327884149
- Cited by
- 43
- References
- 42
- Citations by year
- 2026: 3 · 2024: 3 · 2023: 4 · 2022: 3 · 2021: 3 · 2020: 4 · 2019: 5 · 2018: 7 · 2017: 5 · 2016: 5
- FWCI
- 5.03
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Health Sciences › Medicine › Oncology › Cutaneous Melanoma Detection and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
- Keywords
- MC1R, MC1R variants, melanoma risk, genetic susceptibility, sunburn, actinic skin damage, melanoma prevention, genetic testing, case-control study
- MeSH terms
- Adult, Aged, Back, Face, Female, Genetic Testing, Hand, Humans, Male, Melanoma, Middle Aged, Surveys and Questionnaires, Risk Factors, Skin Neoplasms, Sunburn, Ultraviolet Rays, Genetic Variation, Case-Control Studies, Receptor, Melanocortin, Type 1, Keratosis, Actinic
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