Dataset Information
Ena-DATASET-VIB-13-03-2012-14:05:46:504-2 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000139 | EGA |
REPOSITORIES: EGA
Publications
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.
eLife 20140801
DNA replication errors that persist as mismatch mutations make up the molecular fingerprint of mismatch repair (MMR)-deficient tumors and convey them with resistance to standard therapy. Using whole-genome and whole-exome sequencing, we here confirm an MMR-deficient mutation signature that is distinct from other tumor genomes, but surprisingly similar to germ-line DNA, indicating that a substantial fraction of human genetic variation arises through mutations escaping MMR. Moreover, we identify a ...[more]
