2026-04-17T02:37:50Zhttps://recercat.cat/oai/requestoai:recercat.cat:2445/1716262025-12-04T19:32:18Zcom_2072_1057col_2072_478908col_2072_478917
RECERCAT
author
Supek, Fran
author
Lehner, Ben, 1978-
2020-11-02T08:40:00Z2020-11-02T08:40:00Z2019-07-08
Cancer genome sequencing has revealed that somatic mutation rates vary substantially across the human genome and at scales from megabase-sized domains to individual nucleotides. Here we review recent work that has both revealed the major mutation biases that operate across the genome and the molecular mechanisms that cause them. The default mutation rate landscape in mammalian genomes results in active genes having low mutation rates because of a combination of factors that increase DNA repair: early DNA replication, transcription, active chromatin modifications and accessible chromatin. Therefore, either an increase in the global mutation rate or a redistribution of mutations from inactive to active DNA can increase the rate at which consequential mutations are acquired in active genes. Several environmental carcinogens and intrinsic mechanisms operating in tumor cells likely cause cancer by this second mechanism: by specifically increasing the mutation rate in active regions of the genome.
cc-by-nc-nd (c) Elsevier, B. V., 2019 http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess
Tumors
Genòmica
ADN
Tumors
Genomics
DNA
Scales and mechanisms of somatic mutation rate variation across the human genome
info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion