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Ultraviolet radiation drives mutations in a subset of mucosal melanomas

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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
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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.

Original languageEnglish
Article number259
JournalNature Communications
Volume12
Issue number1
Pages (from-to)259
DOIs
Publication statusPublished - Dec 2021

Bibliographical note

Publisher Copyright:
© 2021, The Author(s).

Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.

    Research areas

  • Adult, Aged, Aged, 80 and over, Conjunctiva/pathology, DNA Damage, Female, Genome, Human, Humans, Male, Melanoma/genetics, Middle Aged, Mucous Membrane/pathology, Mutation/genetics, Skin Neoplasms/genetics, Ultraviolet Rays

ID: 61960171