|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer.
|
31209889 |
2020 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
MLH1-/PMS2-deficient colorectal carcinomas might be HNPCC-associated but also caused by MLH1-promoter methylation in sporadic colon carcinoma.
|
30613919 |
2019 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.
|
28819720 |
2018 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.
|
29701748 |
2018 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In patients with colon cancer, miR-449a expression was inversely correlated with disease-free survival and histological scores and was positively correlated with the expression of MLH1 for which loss-of function mutations have been shown to be involved in colon cancer.
|
28878284 |
2017 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648.
|
28224663 |
2017 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Impact of MLH1 expression on tumor evolution after curative surgical tumor resection in a murine orthotopic xenograft model for human MSI colon cancer.
|
28512763 |
2017 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) -93G>A of the MLH1 gene (rs1800734) and rs4987188" genes_norm="4436">Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors.
|
29181059 |
2017 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The expression of hMLH1, hMSH2, hMSH6, and hPMS2 in the resected tumor tissues was examined by SP immunohistochemistry, in order to analyze the relationship between defective DNA MMR (dMMR) and the clinico-pathological features and prognosis of colon cancer.
|
27706583 |
2016 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, immunohistochemical staining showed that the expression of MLH1 was lost in the colon cancer as well as the ovarian teratoma.
|
27938333 |
2016 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Treatment of MLH1-methylated colon cancer cell lines with the demethylating agent 5'-aza-2'-deoxycytidine induces the expression of MLH1 and sensitizes cancer cells to 5-fluorouracil.
|
26967246 |
2016 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome.
|
26185136 |
2015 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Regulation of TS by irinotecan was evaluated by western blotting and quantitative real-time PCR assay. dMMR accounted for 18.5 % and was related with proximal colon cancer (p = 0.005), poorly differentiated tumors (p = 0.018) and favorable efficacy with a higher disease control rate (DCR), a longer progression-free survival (PFS) and a trend of longer overall survival (OS). dMMR colon cancer cells were more sensitive to irinotecan.
|
26142736 |
2015 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families).
|
25963852 |
2015 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone.
|
26202870 |
2015 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.
|
24051481 |
2014 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Nine cancer cell lines as well as fresh and paraffin embedded colon cancer tissue from 12 patients were used in gene expression studies of SPTAN1 and MLH1.
|
24456667 |
2014 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer survival (for hMLH1 -93G>A, AA+AG vs. GG, HRadj = 0.34, 95 % CI 0.17-0.68, p < 0.01; for hMLH1 IVS3-1403A>T, AT vs. AA, HR(adj) = 2.20, 95 % CI 1.11-4.36, p = 0.02), rather than rectal cancer.
|
24793746 |
2014 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer.
|
23484096 |
2013 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied 17,576 members of 166 MLH1 and 224 MSH2 mutation-carrying families from the Colon Cancer Family Registry.
|
23255516 |
2013 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.
|
22878509 |
2013 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This retrospective cohort study comprised 79 carriers of germline mutation in a MMR gene (18 MLH1, 55 MSH2, 4 MSH6, and 2 PMS2) from the Colon Cancer Family Registry who had had a proctectomy for index rectal cancer.
|
23358792 |
2013 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
MSH3-deficient/MLH1-proficient colon cancer HCT116(MLH1) cells were transfected with the MSH3 cDNA cloned into the pcDNA3.1(-) vector.
|
23636450 |
2013 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2).
|
23385444 |
2013 |