Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

Polymerase proofreading and the mismatch repair pathway maintain the fidelity of DNA replication. Here the authors show that tumors with concurrent loss of function of both pathways lead to mutation signatures that are not simply a sum of the signatures found in tumors involving single alteration.

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Autores principales: N. J. Haradhvala, J. Kim, Y. E. Maruvka, P. Polak, D. Rosebrock, D. Livitz, J. M. Hess, I. Leshchiner, A. Kamburov, K. W. Mouw, M. S. Lawrence, G. Getz
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Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/847499a0dbe4432598403e0c9420f9f4
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spelling oai:doaj.org-article:847499a0dbe4432598403e0c9420f9f42021-12-02T16:49:49ZDistinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair10.1038/s41467-018-04002-42041-1723https://doaj.org/article/847499a0dbe4432598403e0c9420f9f42018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04002-4https://doaj.org/toc/2041-1723Polymerase proofreading and the mismatch repair pathway maintain the fidelity of DNA replication. Here the authors show that tumors with concurrent loss of function of both pathways lead to mutation signatures that are not simply a sum of the signatures found in tumors involving single alteration.N. J. HaradhvalaJ. KimY. E. MaruvkaP. PolakD. RosebrockD. LivitzJ. M. HessI. LeshchinerA. KamburovK. W. MouwM. S. LawrenceG. GetzNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
N. J. Haradhvala
J. Kim
Y. E. Maruvka
P. Polak
D. Rosebrock
D. Livitz
J. M. Hess
I. Leshchiner
A. Kamburov
K. W. Mouw
M. S. Lawrence
G. Getz
Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
description Polymerase proofreading and the mismatch repair pathway maintain the fidelity of DNA replication. Here the authors show that tumors with concurrent loss of function of both pathways lead to mutation signatures that are not simply a sum of the signatures found in tumors involving single alteration.
format article
author N. J. Haradhvala
J. Kim
Y. E. Maruvka
P. Polak
D. Rosebrock
D. Livitz
J. M. Hess
I. Leshchiner
A. Kamburov
K. W. Mouw
M. S. Lawrence
G. Getz
author_facet N. J. Haradhvala
J. Kim
Y. E. Maruvka
P. Polak
D. Rosebrock
D. Livitz
J. M. Hess
I. Leshchiner
A. Kamburov
K. W. Mouw
M. S. Lawrence
G. Getz
author_sort N. J. Haradhvala
title Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
title_short Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
title_full Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
title_fullStr Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
title_full_unstemmed Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
title_sort distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/847499a0dbe4432598403e0c9420f9f4
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