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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 tumors and observed that mutation rates were drastically increased relative to MMR-proficient end...
DNA mismatch repair (MMR) is an evolutionarily conserved process that corrects innate DNA polymerase infidelities during replication to maintain genomic integrity. Defects in a subset of MMR genes are associated with hereditary non-polyposis colon cancer and some other sporadic cancers, highlighting...
ORGANISM(S): Homo sapiens (Human) 
2015-08-19 | PXD000212 | Pride
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.
characterize the post-transcriptional profile of mismatch repair-deficient colon cancer
ORGANISM(S): Homo sapiens 
Constitutional mismatch repair deficiency (CMMRD), caused by bi-allelic germline variants in one of the mismatch repair (MMR) genes, is a childhood cancer predisposition syndrome that often results in the development of multiple tumors early in life. A better understanding of mutational processes...
DNA mismatch repair-deficient colorectal tumors (CRC) frequently show coding microsatellite frameshift mutations in the MSI tumor driver Transforming Growth Factor Beta Receptor Type 2 (TGFBR2) leading to cellular alteration of MSI tumor cells [Lee, J., Warnken, U., Schnölzer, M., Gebert, J. & Kopit...
ORGANISM(S): Homo sapiens (Human) 
2017-04-07 | PXD005620 | Pride
Somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin (Ig) genes are genomic modification events that occur in germinal center (GC) B cells and are initiated through deamination of cytidine to uracil by activation induced cytidine deaminase (AID). Resulting uracil-guani...
ORGANISM(S): Mus musculus 
Tandem mass tag spectrometry was performed on eluted peptides from 8 single cell clones derived from a DNA mismatch repair deficient (MMRd) lung cancer cell line, which was derived ex vivo from tumors induced autochthonously in the lungs of mice in the MMRd models described in Westcott, PMK, et al.,...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-06-04 | MSV000092096 | MassIVE
Genetic and pharmacological modulation of DNA mismatch repair heterogeneous tumors promotes immune surveillance
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