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Ultraviolet radiation drives mutations in a subset of mucosal melanomas
by
Rodrigues, Manuel
, Reis-Filho, Jorge S.
, Marais, Richard
, Roman-Roman, Sergio
, Heegaard, Steffen
, Stern, Marc-Henri
, Valpione, Sara
, Mundra, Piyushkumar A.
, Brooks, Kelly
, Mikkelsen, Lauge Hjorth
, Cassoux, Nathalie
, Dhomen, Nathalie
in
45/23
/ 631/67/1813/1634
/ 631/67/69
/ Adult
/ Aged
/ Aged, 80 and over
/ Conjunctiva - pathology
/ Deoxyribonucleic acid
/ DNA
/ DNA Damage
/ Female
/ Gene sequencing
/ Genome, Human
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Male
/ Melanoma
/ Melanoma - genetics
/ Middle Aged
/ Mucosa
/ Mucous Membrane - pathology
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Radiation damage
/ Science
/ Science (multidisciplinary)
/ Skin Neoplasms - genetics
/ Ultraviolet radiation
/ Ultraviolet Rays
/ Whole genome sequencing
2021
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Ultraviolet radiation drives mutations in a subset of mucosal melanomas
by
Rodrigues, Manuel
, Reis-Filho, Jorge S.
, Marais, Richard
, Roman-Roman, Sergio
, Heegaard, Steffen
, Stern, Marc-Henri
, Valpione, Sara
, Mundra, Piyushkumar A.
, Brooks, Kelly
, Mikkelsen, Lauge Hjorth
, Cassoux, Nathalie
, Dhomen, Nathalie
in
45/23
/ 631/67/1813/1634
/ 631/67/69
/ Adult
/ Aged
/ Aged, 80 and over
/ Conjunctiva - pathology
/ Deoxyribonucleic acid
/ DNA
/ DNA Damage
/ Female
/ Gene sequencing
/ Genome, Human
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Male
/ Melanoma
/ Melanoma - genetics
/ Middle Aged
/ Mucosa
/ Mucous Membrane - pathology
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Radiation damage
/ Science
/ Science (multidisciplinary)
/ Skin Neoplasms - genetics
/ Ultraviolet radiation
/ Ultraviolet Rays
/ Whole genome sequencing
2021
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Ultraviolet radiation drives mutations in a subset of mucosal melanomas
by
Rodrigues, Manuel
, Reis-Filho, Jorge S.
, Marais, Richard
, Roman-Roman, Sergio
, Heegaard, Steffen
, Stern, Marc-Henri
, Valpione, Sara
, Mundra, Piyushkumar A.
, Brooks, Kelly
, Mikkelsen, Lauge Hjorth
, Cassoux, Nathalie
, Dhomen, Nathalie
in
45/23
/ 631/67/1813/1634
/ 631/67/69
/ Adult
/ Aged
/ Aged, 80 and over
/ Conjunctiva - pathology
/ Deoxyribonucleic acid
/ DNA
/ DNA Damage
/ Female
/ Gene sequencing
/ Genome, Human
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Male
/ Melanoma
/ Melanoma - genetics
/ Middle Aged
/ Mucosa
/ Mucous Membrane - pathology
/ multidisciplinary
/ Mutation
/ Mutation - genetics
/ Radiation damage
/ Science
/ Science (multidisciplinary)
/ Skin Neoplasms - genetics
/ Ultraviolet radiation
/ Ultraviolet Rays
/ Whole genome sequencing
2021
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Ultraviolet radiation drives mutations in a subset of mucosal melanomas
Journal Article
Ultraviolet radiation drives mutations in a subset of mucosal melanomas
2021
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Overview
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.
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