XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly. Here the authors sequence genomes of non-skin cancers from XP-C patients to unravel its mutational patterns.

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Auteurs principaux: Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev
Format: article
Langue:EN
Publié: Nature Portfolio 2020
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Accès en ligne:https://doaj.org/article/486d5c1a2f994c9e87d502eb64b048d7
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