Ontology highlight
ABSTRACT:
SUBMITTER: Shinbrot E
PROVIDER: S-EPMC4216916 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Shinbrot Eve E Henninger Erin E EE Weinhold Nils N Covington Kyle R KR Göksenin A Yasemin AY Schultz Nikolaus N Chao Hsu H Doddapaneni HarshaVardhan H Muzny Donna M DM Gibbs Richard A RA Sander Chris C Pursell Zachary F ZF Wheeler David A DA
Genome research 20140916 11
Tumors with somatic mutations in the proofreading exonuclease domain of DNA polymerase epsilon (POLE-exo*) exhibit a novel mutator phenotype, with markedly elevated TCT→TAT and TCG→TTG mutations and overall mutation frequencies often exceeding 100 mutations/Mb. Here, we identify POLE-exo* tumors in numerous cancers and classify them into two groups, A and B, according to their mutational properties. Group A mutants are found only in POLE, whereas Group B mutants are found in POLE and POLD1 and a ...[more]