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Ultraviolet radiation drives mutations in a subset of mucosal melanomas

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


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  • Piyushkumar A Mundra
  • Nathalie Dhomen
  • Manuel Rodrigues
  • Lauge Hjorth Mikkelsen
  • Nathalie Cassoux
  • Kelly Brooks
  • Sara Valpione
  • Jorge S Reis-Filho
  • Steffen Heegaard
  • Marc-Henri Stern
  • Sergio Roman-Roman
  • Richard Marais
Vis graf over relationer

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.

TidsskriftNature Communications
Udgave nummer1
Sider (fra-til)259
StatusUdgivet - dec. 2021

Bibliografisk note

Funding Information:
R.M. is supported by Wellcome Trust (100282/Z/12/Z), European Research Council (ERC-ADG-2014 671262), Cancer Research UK (A27412 and A22902). M.R. and M.-H.S. are funded by Institut Curie, the Ligue Nationale Contre le Cancer (Labellisa-tion), and Site de Recherche Intégrée sur le Cancer (SiRIC) de l’Institut Curie. M.-H.S. is also funded by Institut National de la Santé et de la Recherche Médicale. R.M., M.-H.S., and S.R. are supported by the European Commission under the Horizon 2020 program (U.M. Cure; project number: 667787). L.H.M. was funded by a non-restricted Candys Foundation grant. J.S.R.-F. is funded in part the Breast Cancer Research Foundation. S.V.

Funding Information:
is supported by a Harry J Lloyd Charitable Trust Career Development Award. WGS costs were partly supported by the Manchester NIHR Biomedical Research Centre.

ID: 61960171