Dataset Information

Whole genome sequencing and whole exome sequencing of mucosal melanoma

ABSTRACT: We conducted whole genome sequencing of 5 mucosal melanomas and their matched DNA from blood. We conducted whole exome sequencing of a further 5 mucosal melanomas and their matched DNA from blood.

PROVIDER: EGAS00001000474 | EGA |

REPOSITORIES: EGA

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Publications

Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma.

Furney Simon J SJ Turajlic Samra S Stamp Gordon G Nohadani Mahrokh M Carlisle Anna A Thomas J Meirion JM Hayes Andrew A Strauss Dirk D Gore Martin M van den Oord Joost J Larkin James J Marais Richard R

The Journal of pathology 20130701 3

Mucosal melanoma displays distinct clinical and epidemiological features compared to cutaneous melanoma. Here we used whole genome and whole exome sequencing to characterize the somatic alterations and mutation spectra in the genomes of ten mucosal melanomas. We observed somatic mutation rates that are considerably lower than occur in sun-exposed cutaneous melanoma, but comparable to the rates seen in cancers not associated with exposure to known mutagens. In particular, the mutation signatures ...[more]

PMID: 23620124

Dataset Information

Whole genome sequencing and whole exome sequencing of mucosal melanoma

Publications

Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma.

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