|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Current theories of malignant transformation postulate that development of colon cancer is related to 2 main pathways; the loss of heterozygosity pathway, which is usually due to a defect in the adenomatous polyposis coli APC gene and microsatellite instability, which is usually due to a defect in mismatch repair MMR genes.
|
15756347 |
2005 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Owing to a tight correlation between MSI-high, inactivating mutations of MMR genes and MMR protein expression in colon cancer, MMR protein expression commonly is used as a marker for MSI.
|
11774265 |
2002 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Women with loss of MMR protein expression were compared to women with intact tumor protein expression and were less likely to be stage I (58.6% vs 78.0%; P = 0.043), more likely to have grade 3 tumors (32.1% vs 13.9%; P = 0.034), had larger tumors (6.2 vs 3.7 cm; P < 0.001), had positive lymph nodes more often (24.1% vs 3.7%; P < 0.001), and more often reported a first-degree relative with colon cancer (17.2% vs 1.2%; P < 0.001).
|
23552806 |
2013 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization.
|
27896849 |
2017 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
For patients with stage II CC, 112 of 141 (79%) would use MMR status to assist AC recommendations, and 97 (69%) thought it changed their practice.
|
26002619 |
2015 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We examined MMR status as a predictor of adjuvant therapy benefit in patients with stages II and III colon cancer.
|
20498393 |
2010 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility in Lynch syndrome by calibrating in silico tools to estimate prior probabilities of pathogenicity for MMR gene missense substitutions.
|
22949387 |
2013 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hyperthermia effects on Hsp27 and Hsp72 associations with mismatch repair (MMR) proteins and cisplatin toxicity in MMR-deficient/proficient colon cancer cell lines.
|
26043026 |
2015 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mismatch repair (MMR) gene is closely related to the pathogenesis of colon cancer.
|
26142736 |
2015 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results suggest that MMR-deficient colon carcinoma cells are hypersensitive to inhibitors of the pol reaction.
|
15737691 |
2005 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Costs and quality-adjusted life-years (QALYs) were estimated for stage II, T3, MMR-P colon cancer patients using guideline-compliant, state-transition probability estimation methods in a Markov model.
|
25154747 |
2014 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, this is the first documented case of synchronous colon and prostate cancers, with isolated PMS2 loss present in the colon cancer while intact DNA mismatch repair (MMR) protein expressions present in the prostate cancer, in the English literature.
|
30061258 |
2018 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry (IHC) for MMR proteins and/or MSI analysis are screening tests that are done, either by themselves or in conjunction, on colon cancer tissue to identify individuals at risk for LS.
|
24383517 |
2014 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To investigate the prevalence of the microsatellite instability related to mismatch repair (MMR) gene defects using a panel of six microsatellite markers, as recommended by a recent workshop on microsatellite instability in colon cancer, because it is still unclear whether abnormalities in DNA MMR genes are involved in transitional cell carcinoma (TCC) of the bladder.
|
10688097 |
2000 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis.
|
21193451 |
2011 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deleterious germ-line variants involving the DNA mismatch repair (MMR) genes have been identified as the cause of the hereditary nonpolyposis colorectal cancer syndrome known as the Lynch syndrome, but in numerous familial clusters of colon cancer, the cause remains obscure.
|
21671081 |
2011 |
|
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 studied two of these genomic defects-mismatch repair deficiency (MMR-D) and loss of heterozygosity at chromosomal location 18q (18qLOH)-in patients enrolled onto two phase III cooperative group trials for treatment of potentially curable colon cancer.
|
21747089 |
2011 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied a cohort of 2,042 MMR gene mutations carriers (n = 807, diagnosed with colorectal cancer), from the Colon Cancer Family Registry.
|
29904935 |
2018 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A retrospective cohort study was performed on women diagnosed with CRC with a germline mutation in a mismatch repair (MMR) gene (Lynch syndrome cases), and women with microsatellite stable (MSS) CRC who were not known to carry a germline mutation (non-Lynch cases), identified from the Colon Cancer Family Registry.
|
20533284 |
2010 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We hypothesise a model in which variants of the MSH3 gene behave as low-risk alleles that contribute to the risk of colon cancer in Lynch families, mostly with other low-risk alleles of MMR genes.
|
21128252 |
2011 |
|
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 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 |
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 |
GeneticVariation
|
disease |
BEFREE |
This study reports a case series of de novo mutations in MMR genes and estimates the frequency of de novo mutation in MMR genes using the Colon Cancer Family Registry.
|
21636617 |
2011 |