|
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 |
GeneticVariation
|
disease |
BEFREE |
In particular, gene instability caused by decreased expression of the hMLH1 gene, a DNA mismatch repair (MMR) gene, may be linked to the activating BRAF V600E point mutation in sporadic colon cancer.
|
19424571 |
2009 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer.
|
18615680 |
2008 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Methylation of the MLH1 promoter was identified in the peripheral blood leukocytes (PBLs) of a family member with an early onset colon cancer.
|
18022218 |
2008 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Chromosomal autonomy of hMLH1 methylation in colon cancer.
|
11857087 |
2002 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amongst the important known susceptibility genes are those dominant genes conferring a high risk of breast and ovarian cancer (BRCA1), colon cancer (hMSH2 and hMLH1), and melanoma (MLM).
|
7987639 |
1994 |
|
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 |
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 |
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
|
20444249 |
2010 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Prognostic significance of microsatellite instability determined by immunohistochemical staining of MSH2 and MLH1 in sporadic T3N0M0 colon cancer.
|
14960518 |
2004 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
"Null pattern" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation.
|
22067334 |
2011 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability.
|
9699680 |
1998 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Introduction of a nocodazole-induced G2-M block, which corrected the MLH1-mediated G2-M arrest deficiency in HCT116 cells, clearly demonstrated that HCT116 and HCT116 3-6 cells did not differ in G1 arrest or G1-S cell cycle transition after IR.
|
9485033 |
1998 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we examine the response of MMR-proficient (hMLH1+) and MMR-deficient (hMLH1-) colon carcinoma cell lines to the halogenated thymidine (dThd) analogues iododeoxyuridine (IdUrd) and bromodeoxyuridine (BrdUrd) before and after irradiation.
|
10213489 |
1999 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three human colon cancer cell lines were used, SW480 cells, which are wild-type for mismatch repair genes and have mutated p53, HCT116 cells, which are mutant in hMLH1 and wild-type for p53, and HCT15 cells, which are mutant in hMSH6 and mutant in p53 as well.
|
12231545 |
2002 |
|
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 |
PosttranslationalModification
|
disease |
BEFREE |
In this study, we evaluated the frequency of microsatellite instability (MSI) using the five markers suggested by the National Cancer Institute workshop, target gene mutations, hMLH1 and hMSH2 expression, and hMLH1 promoter hypermethylation in the adenomas of patients with and without a SFDR affected by colon cancer.
|
12591727 |
2003 |
|
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 |
We obtained data from the Colon Cancer Family Registry for 764 carriers of an MMR gene mutation (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had a previous diagnosis of colorectal cancer.
|
22933731 |
2012 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
We illustrate the phenomenon using the MethyLight technology, applying our proposed analysis to compare MLH1 DNA methylation levels in males and females studied in the Colon Cancer Family Registry.
|
21752297 |
2011 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Importantly, families with the MLH1 exon 16 mutation displayed significant variation (P = 0.012) in the age at onset of colon cancer, despite shared predisposition.
|
14574010 |
2001 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a large-enrollment, sophomore-level laboratory course, groups of three to four students were assigned a gene associated with either breast cancer (brc-1), Wilson disease (cua-1), ovarian dysgenesis (fshr-1), or colon cancer (mlh-1).
|
22665589 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
MSH2 and MLH1 immunodetection and the prognosis of colon cancer.
|
11604984 |
2001 |