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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Autores principales:	Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/486d5c1a2f994c9e87d502eb64b048d7
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spelling	oai:doaj.org-article:486d5c1a2f994c9e87d502eb64b048d72021-12-02T16:50:04ZXPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature10.1038/s41467-020-19633-92041-1723https://doaj.org/article/486d5c1a2f994c9e87d502eb64b048d72020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19633-9https://doaj.org/toc/2041-1723Xeroderma 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.Andrey A. YurchenkoIsmael PadioleauBakhyt T. MatkarimovJean SoulierAlain SarasinSergey NikolaevNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Andrey A. Yurchenko Ismael Padioleau Bakhyt T. Matkarimov Jean Soulier Alain Sarasin Sergey Nikolaev XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
description	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.
format	article
author	Andrey A. Yurchenko Ismael Padioleau Bakhyt T. Matkarimov Jean Soulier Alain Sarasin Sergey Nikolaev
author_facet	Andrey A. Yurchenko Ismael Padioleau Bakhyt T. Matkarimov Jean Soulier Alain Sarasin Sergey Nikolaev
author_sort	Andrey A. Yurchenko
title	XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
title_short	XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
title_full	XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
title_fullStr	XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
title_full_unstemmed	XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
title_sort	xpc deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/486d5c1a2f994c9e87d502eb64b048d7
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XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

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