Dataset Information


Ovarian & matched normal (Genotypes) - samples

ABSTRACT: Ovarian & matched normal (Genotypes)

PROVIDER: EGAD00010000220 | EGA |


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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]

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