Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, loss of the MLH1 protein was found to be associated with higher grade cancer (P = 0.02) and lymph node positivity (P = 0.03), highlighting its essential role, as a component of the mismatch repair (MMR) machinery.
|
31701475 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
While AS13 is modest in potency and selectivity, this discovery has the potential to lead to further drug development that may offer better treatment options for cancer patients with MLH1 deficiency.
|
30897027 |
2019 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
|
31779681 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Using The Cancer Genome Atlas RNA-seq datasets with the greatest MSI-H incidence, i.e. those from colon (n = 208), stomach (n = 269), and endometrial (n = 241) cancers, we trained an algorithm to predict tumor MSI from under-expression of the mismatch repair genes MLH1, PMS2, MSH2, and MSH6 and from 10 additional genes with strong pan-cancer associations with tumor hypermutation.
|
30665466 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Using sensitive allele-specific detection methods, we demonstrate that MLH1 is the target gene for rs1800734 mediated cancer risk.
|
31530880 |
2019 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Our genome-wide expression profiling experiment demonstrates that cancer preceding changes are already seen in histologically normal colon mucosa and that decreased expressions of Mlh1 and other chromosomal segregation genes may form a field-defect in mucosa, which trigger MMR-proficient, chromosomally unstable CRC.
|
29701748 |
2018 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
A total of 143 patients with upper urinary tract urothelial cancer who had received total nephroureterectomy were immunohistochemically stained for the expression of mismatch repair proteins MLH1, PMS2, MSH2 and MSH6.
|
29164703 |
2018 |
Primary malignant neoplasm
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
In summary, the epigenetic repression of DNA damage repair genes due to promoter hypermethylation of MLH1 and MSH2 and inefficient recruitment of MMR complex at the site of DNA damage owing to the reduced level of H3K36me3 impairs the mismatch repair pathway that might render the arsenic-exposed individuals more susceptible towards DNA damage and associated cancer risk.
|
29499398 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A total of 5.4% of suspected Lynch syndrome patients have a rare single-nucleotide variant (G > A; rs143969848; 2.5% in gnomAD European, non-Finnish) within a highly conserved CTCF-binding motif, which disrupts enhancer activity in SW620 colorectal carcinoma cells.<b>Conclusions:</b> A CTCF-bound region within the <i>MLH1</i>-35 enhancer regulates <i>MLH1</i> expression in colorectal cells and is worthy of scrutiny in future genetic screening strategies for suspected Lynch syndrome associated with loss of MLH1 expression.<i>Clin Cancer Res; 24(18); 4602-11.©2018 AACR</i>.
|
29898989 |
2018 |
Primary malignant neoplasm
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer.
|
29783979 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we present RNA analysis performed for 13 canonical splice site variants predicted or known to result in splicing in the cancer predisposition genes MLH1, MSH2, MSH6, APC and BRCA1.
|
29706640 |
2018 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Further studies should assess whether MLH1 expression predicts which patients with localized pancreatic cancer may benefit most from aggressive, multimodality treatment.Cancer 2018;124:491-8.© 2017 American Cancer Society.
|
29053185 |
2018 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task.
|
29849630 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not.
|
29520894 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This screen identifies the A-allele of rs1800734 within the promoter region of MLH1 as perturbing the binding of TFAP4 and consequently increasing DCLK3 expression through a long-range interaction, which promotes cancer malignancy through enhancing expression of the genes related to epithelial-to-mesenchymal transition.
|
28195176 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2).
|
28562508 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These findings provide evidence that hMLH1 polymorphisms may associate with cancer risk, especially in Asians.
|
29190978 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MLH1 methylation analysis identifies women with tumor MLH1 loss who likely have sporadic endometrial cancer and do not need heightened cancer prevention surveillance.
|
28820751 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.
|
27487738 |
2016 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
The medical records of all patients diagnosed with endometrial or ovarian cancer at the Department of Gynecology and Obsterics, University Hospital Dresden, between 1998 and 2012, were screened for a family history of HNPCC-associated cancer.
|
27535758 |
2016 |
Primary malignant neoplasm
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
RUNX3 showed protein silencing in cancer and normal mucosa, compared to inflammatory peritumoural infiltrate in almost all cases, showing a non-lymphocytic predominant pattern and being correlated with epigenetic silencing.Our results show aberrant promoter's methylation in APC, CDH1, CDKN2A, MLH1 and RUNX3 associated with GC, as well as a non-lymphocytic predominant infiltrate with high expression of RUNX3.
|
27566570 |
2016 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in DNA mismatch repair (MMR) genes are the cause of hereditary non-polyposis colorectal cancer/Lynch syndrome (HNPCC/LS) one of the most common cancer predisposition syndromes, and defects in MMR are also prevalent in sporadic colorectal cancers.
|
26708047 |
2016 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The MLH1-positive expression rates in cancer and normal tissue were 47.5% and 81.8%, respectively, with statistical difference (P = 0.008); MLH1 protein positive expression was correlated with clinical stage (P = 0.04) and cancer lymph node metastasis (P = 0.03).
|
28230037 |
2016 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
miR-155 is an oncogenic miRNA that is often overexpressed in cancer and is associated with poor prognosis. miR-155 can target several DNA repair factors, including RAD51, MLH1, and MSH6, and its overexpression results in an increased mutation frequency in vitro, although the mechanism has yet to be fully understood.
|
26850462 |
2016 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although the presence of the BRAF V600E mutation is indicative of a sporadic cancer, up to 30% to 50% of colorectal carcinomas with MLH1 promoter hypermethylation will lack a BRAF mutation.
|
27438990 |
2016 |