Ultraviolet radiation drives mutations in a subset of mucosal melanomas

Study ID Alternative Stable ID Type
EGAS00001004697 Other

Study Description

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 present the largest cohort of mucosal melanomas of conjunctival origin to be analyzed by whole genome sequencing and show 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 could benefit from treatments currently used for common cutaneous melanoma.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006568 This dataset contains 20 whole genome sequences from 10 tumor-normal pairs from conjunctival melanomas. 20

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Publications Citations
Ultraviolet radiation drives mutations in a subset of mucosal melanomas.
Nat Commun 12:2021 259