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

doi:10.1038/s41467-020-20432-5

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

33 Citations (Scopus)

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 language	English
Article number	259
Journal	Nature Communications
Volume	12
Issue number	1
Number of pages	7
DOIs	https://doi.org/10.1038/s41467-020-20432-5
Publication status	Published - Dec 2021

Keywords

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

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10.1038/s41467-020-20432-5

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title = "Ultraviolet radiation drives mutations in a subset of mucosal melanomas",

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.",

keywords = "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",

author = "Mundra, \{Piyushkumar A\} and Nathalie Dhomen and Manuel Rodrigues and Mikkelsen, \{Lauge Hjorth\} and Nathalie Cassoux and Kelly Brooks and Sara Valpione and Reis-Filho, \{Jorge S\} and Steffen Heegaard and Marc-Henri Stern and Sergio Roman-Roman and Richard Marais",

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doi = "10.1038/s41467-020-20432-5",

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T1 - Ultraviolet radiation drives mutations in a subset of mucosal melanomas

AU - Mundra, Piyushkumar A

AU - Dhomen, Nathalie

AU - Rodrigues, Manuel

AU - Mikkelsen, Lauge Hjorth

AU - Cassoux, Nathalie

AU - Brooks, Kelly

AU - Valpione, Sara

AU - Reis-Filho, Jorge S

AU - Heegaard, Steffen

AU - Stern, Marc-Henri

AU - Roman-Roman, Sergio

AU - Marais, Richard

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Conjunctiva/pathology

KW - DNA Damage

KW - Female

KW - Genome, Human

KW - Humans

KW - Male

KW - Melanoma/genetics

KW - Middle Aged

KW - Mucous Membrane/pathology

KW - Mutation/genetics

KW - Skin Neoplasms/genetics

KW - Ultraviolet Rays

UR - https://www.scopus.com/pages/publications/85099194063

U2 - 10.1038/s41467-020-20432-5

DO - 10.1038/s41467-020-20432-5

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SN - 2041-1723

VL - 12

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 259

ER -

Ultraviolet radiation drives mutations in a subset of mucosal melanomas

Abstract

Keywords

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