Article

Mutational signatures and increased retrotransposon insertions in Xeroderma Pigmentosum variant skin tumors

2022-08-01

Abstract excerpt

Xeroderma Pigmentosum variant (XP-V) is an autosomal recessive disease with an increased risk to develop cutaneous neoplasms in sunlight exposed regions. These cells are deficient in the translesion synthesis DNA polymerase eta. Eleven skin tumors from a genetic cluster of XP-V patients had their exome sequenced. Mutational signatures identified for most tumors were related to ultraviolet exposure, such as C>T tra...

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Literature Corpus work: 848636cb-73bf-5c4c-8017-eceafa3b7a9e
DOI: 10.1101/2022.07.28.22277756

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