|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While a colon cancer from the same individual showed MSI, the BC specimen was MSI-negative, indicating that development of the latter tumor was unrelated to MMR impairment, despite presence of a constitutional MLH1 mutation.Hum Mutat 17:521, 2001.
|
11385712 |
2001 |
|
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 |
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 |
We previously identified a novel genomic instability phenotype of multiple reciprocal chromosomal translocations in a MLH1-defective, microsatellite unstable (MSI) colon cancer cell line (HCA7) and, further, showed that it was unlikely to be directly caused by the mismatch repair (MMR) defect in this cell line.
|
18162445 |
2008 |
|
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.
|
23796201 |
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 |
|
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 |
We have tested several cell lines from both MMR-deficient and MMR-proficient groups using this method, including a colon carcinoma cell line HCT116 with defective hMLH1 gene and a derivative complemented by transient transfection with hMLH1 cDNA.
|
15249596 |
2004 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have studied the possible interactions between the mismatch repair system and p53 in a human colon cancer cell line, HCT-116 (known to have a homozygous mutation in mismatch repair gene hMLH1 on chromosome 3) and in a clone obtained after insertion of a single copy of chromosome 3 (HCT-116+ ch3).
|
10213232 |
1999 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have studied MSI, somatic mutations in repeat-containing genes, DNA-ploidy, and cytogenetic aberrations in a colon carcinoma from a patient with a germline MLH1 mutation.
|
11996796 |
2002 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years.
|
23112559 |
2012 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that germ-line involvement of MSH6 and MSH3 is rare and that other genes are likely to account for a majority of MSH2-, MLH1-mutation negative families with nonpolypotic colon cancer.
|
11245474 |
2001 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Using 5 gallbladder cancer carcinoma lines and 1 colon carcinoma cell line (SW48), MGMT and hMLH1 expression was analyzed using RT-PCR and Western blotting.
|
15870882 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
To evaluate this possibility, we treated three colon cancer cell lines that are either proficient in mismatch repair (MMR) [SW480 (MMR wild type)] or deficient in MMR [HCT116 (hMLH1 mutant) and HCT15 (hMSH6 mutant)] with three cycles of BG+BCNU.
|
12036916 |
2002 |
|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
The results of in vitro and in vivo experiments indicated that MLH1, together with low levels of Top1, contributed to colon cancer resistance to irinotecan.
|
23653048 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The human colon cancer cell line HCT116 is deficient in DNA mismatch repair (MMR) because of a genetic defect in the hMLH1 gene, which is located on chromosome 3.
|
9337351 |
1997 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The BRAF V600E mutation and 5 CpG island markers (MINT1, MINT2, MINT31, p16 and hMLH1) were assessed in 1154 cases of colon cancer.
|
17096326 |
2007 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to compare the distribution of MLH1 -93G>A genotypes between patients with familial colon cancer, sporadic colon cancer and healthy subjects.
|
23374646 |
2013 |