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Ena-DATASET-VIB-29-07-2013-12:55:51:690-38 - samples

ABSTRACT: DNA replication errors occurring in mismatch repair (MMR) deficient cells persist as mismatch mutations and predispose to a range of tumors. Here, we sequenced the first whole-genomes from MMR-deficient endometrial tumors.

PROVIDER: EGAD00001000641 | EGA |

REPOSITORIES: EGA

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Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.

Zhao Hui H Thienpont Bernard B Yesilyurt Betül Tuba BT Moisse Matthieu M Reumers Joke J Coenegrachts Lieve L Sagaert Xavier X Schrauwen Stefanie S Smeets Dominiek D Matthijs Gert G Aerts Stein S Cools Jan J Metcalf Alex A Spurdle Amanda A Amant Frederic F Lambrechts Diether D

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]

PMID: 25085081

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