Ultraviolet radiation drives mutations in a subset of mucosal melanomas

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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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
DOIs
Publication statusPublished - 11 Jan 2021
Externally publishedYes

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