Ultraviolet radiation drives mutations in a subset of mucosal melanomas
| Autor: | Jorge S. Reis-Filho, Sergio Roman-Roman, Steffen Heegaard, Nathalie Dhomen, Kelly Brooks, Lauge Hjorth Mikkelsen, Richard Marais, Manuel Rodrigues, Sara Valpione, Nathalie Cassoux, Piyushkumar A. Mundra, Marc-Henri Stern |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Male Skin Neoplasms General Physics and Astronomy 0302 clinical medicine Cancer genomics Melanoma Ultraviolet radiation Dominance (genetics) Aged 80 and over Multidisciplinary integumentary system Manchester Cancer Research Centre Mucosal melanoma Conjunctiva/pathology Middle Aged 3. Good health 030220 oncology & carcinogenesis Female Conjunctiva Adult Mutation/genetics DNA damage Ultraviolet Rays Science Mucous Membrane/pathology Biology Article General Biochemistry Genetics and Molecular Biology Melanoma/genetics 03 medical and health sciences Skin Neoplasms/genetics medicine Humans neoplasms Aged Whole genome sequencing Mucous Membrane Genome Human ResearchInstitutes_Networks_Beacons/mcrc fungi General Chemistry medicine.disease 030104 developmental biology Mutation Cutaneous melanoma Cancer research DNA Damage |
| Zdroj: | Mundra, P, Dhomen, N, Rodrigues, M, Mikkelsen, L H, Cassoux, N, Brooks, K, Valpione, S, Reis-Filho, J S, Heegaard, S, Stern, M-H, Roman-Roman, S & Marais, R 2021, ' Ultraviolet radiation drives mutations in a subset of mucosal melanomas ', Nature Communications, vol. 12, no. 259, 259 . https://doi.org/10.1038/s41467-020-20432-5 Mundra, P A, Dhomen, N, Rodrigues, M, Mikkelsen, L H, Cassoux, N, Brooks, K, Valpione, S, Reis-Filho, J S, Heegaard, S, Stern, M H, Roman-Roman, S & Marais, R 2021, ' Ultraviolet radiation drives mutations in a subset of mucosal melanomas ', Nature Communications, vol. 12, no. 1, 259 . https://doi.org/10.1038/s41467-020-20432-5 Nature Communications Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021) |
| DOI: | 10.1038/s41467-020-20432-5 |
| Popis: | Although identified as the key environmental driver of common cutaneous melanoma, the role of ultraviolet radiation (UVR)-induced DNA damage in mucosal melanoma is poorly defined. We analyze 10 mucosal melanomas of conjunctival origin by whole genome sequencing and our data shows a predominance of UVR-associated single base substitution signature 7 (SBS7) in the majority of the samples. Our data shows mucosal melanomas with SBS7 dominance have similar genomic patterns to cutaneous melanomas and therefore this subset should not be excluded from treatments currently used for common cutaneous melanoma. Mucosal melanomas are not thought to be UV radiation (UVR)-driven, yet some present UVR-related mutations. Here the authors show that some mucosal melanomas, especially conjunctival, present mutations characteristic of UVR exposure, yet share structural variants typical of other mucosal melanomas. |
| Databáze: | OpenAIRE |
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