Article
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Nature communications - 4 May 2023
Yurchenko Andrey A, Rajabi Fatemeh, Braz-Petta Tirzah, Fassihi Hiva, Lehmann Alan, Nishigori Chikako, Wang Jinxin, Padioleau Ismael, Gunbin Konstantin, Panunzi Leonardo, Morice-Picard Fanny, Laplante Pierre, Robert Caroline, Kannouche Patricia L, Menck Carlos F M, Sarasin Alain, Nikolaev Sergey I
Abstract excerpt
Xeroderma pigmentosum (XP) is a genetic disorder caused by mutations in genes of the Nucleotide Excision Repair (NER) pathway (groups A-G) or in Translesion Synthesis DNA polymerase η (V). XP is associated with an increased skin cancer risk, reaching, for some groups, several thousand-fold compared to the general population. Here, we analyze 38 skin cancer genomes from five XP groups. We find that the activity of...
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