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

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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Science
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Acceso en línea:https://doaj.org/article/847499a0dbe4432598403e0c9420f9f4
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