Frontiers in Genetics, 2022 The DNA mismatch repair (MMR) pathway and its regulation are critical for genomic stability. Mismatch repair (MMR) follows replication and repairs misincorporated bases and small insertions or deletions that are not recognized and removed by the ...
Hannah G. Daniels +8 more
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Signalling cell cycle arrest and cell death through the MMR System [PDF]
, 2006 Loss of DNA mismatch repair (MMR) in mammalian cells, as well as having a causative role in cancer, has been linked to resistance to certain DNA damaging agents including clinically important cytotoxic chemotherapeutics.
Brown, R., O'Brien, V.
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Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. [PDF]
PLoS ONE, 2010 We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples.
Miralem Mrkonjic +21 more
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Factors modifying the risk for developing acute skin toxicity after whole-breast intensity modulated radiotherapy [PDF]
, 2014 Background: After breast-conserving radiation therapy most patients experience acute skin toxicity to some degree. This may impair patients' quality of life, cause pain and discomfort. In this study, we investigated treatment and patient-related factors,
De Langhe, Sofie +9 more
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Journal of Molecular Pathology, 2022 Several causes may lead to CRC, either extrinsic (sporadic forms) or genetic (hereditary forms), such as Lynch syndrome (LS). Most sporadic deficient mismatch repair (dMMR) CRC cases are characterized by the methylation of the MLH1 promoter gene and/or ...
Thais Maloberti +15 more
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Mutator Phenotypes Conferred by MLH1Overexpression and by Heterozygosity for mlh1Mutations [PDF]
Molecular and Cellular Biology, 1999 Loss of DNA mismatch repair due to mutation or diminished expression of the MLH1 gene is associated with genome instability and cancer. In this study, we used a yeast model system to examine three circumstances relevant to modulation of MLH1 function.
P V, Shcherbakova, T A, Kunkel
openaire +2 more sources
Tumor-associated Apc mutations in Mlh1−/−Apc1638N mice reveal a mutational signature of Mlh1 deficiency [PDF]
Oncogene, 2000 Apc1638N mice, which are heterozygous for a germline mutation in Apc, typically develop three to five spontaneous intestinal tumors per animal. In most cases this is associated with allelic loss of wildtype Apc. We have previously reported that the multiplicity of intestinal tumors is increased dramatically by crossing Apc1638N with an Mlh1-deficient ...
M, Kuraguchi +5 more
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Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells. [PDF]
, 2012 Estrogen has anti-colorectal cancer effects which are thought to be mediated by mismatch repair gene (MMR) activity. Estrogen receptor (ER) expression is associated with microRNA (miRNA) expression in ER-positive tumors.
Fu, Lei +6 more
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Does sex of the patient play a role in survival for MSI colorectal cancer? [PDF]
, 2018 Microsatellite instability (MSI) is a feature of colorectal tumors that develops as a result of inactivation of the DNA mismatch repair system. It is found in about 15% of all colorectal cancers and is an important prognostic molecular marker when ...
Alecu, Lucian +11 more
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Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression [PDF]
Human Mutation, 2015 Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes.
Fields, Michael +9 more
openaire +4 more sources