Ontology highlight
ABSTRACT:
SUBMITTER: Haradhvala NJ
PROVIDER: S-EPMC5931517 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Haradhvala N J NJ Kim J J Maruvka Y E YE Polak P P Rosebrock D D Livitz D D Hess J M JM Leshchiner I I Kamburov A A Mouw K W KW Lawrence M S MS Getz G G
Nature communications 20180501 1
Fidelity of DNA replication is maintained using polymerase proofreading and the mismatch repair pathway. Tumors with loss of function of either mechanism have elevated mutation rates with characteristic mutational signatures. Here we report that tumors with concurrent loss of both polymerase proofreading and mismatch repair function have mutational patterns that are not a simple sum of the signatures of the individual alterations, but correspond to distinct, previously unexplained signatures: CO ...[more]