|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of MMR genes cause susceptibility to a hereditary form of colon cancer, hereditary nonpolyposis colon cancer (HNPCC), which represents one of the most common syndromes associated with cancer predisposition in man.
|
9255561 |
1997 |
|
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 |
In this report, we show that such hybrid cell lines can also be a valuable tool in the study of the mutated MMR proteins, in particular the variants found in hereditary nonpolyposis colon cancer families that carry missense mutations and where it is unclear whether they predispose to colon cancer.
|
11691782 |
2001 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Colon cancer was more frequently located in the proximal colon and showed an earlier age at onset in families with MMR gene mutation or with MSI than in families with stable tumors.
|
11494233 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes.
|
15365995 |
2004 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
It has been suggested that women harboring MMR gene mutations have a higher risk of endometrial cancer than of colon cancer.
|
16803540 |
2007 |
|
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 |
Less understood is the risk of colon cancer associated with common polymorphisms in MMR genes and the potential interacting role of lifestyle factors known to damage DNA.
|
18523027 |
2009 |
|
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 |
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 |
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 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 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 |
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 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We aimed to estimate the risk of metachronous colon cancer for MMR gene mutation carriers who underwent a proctectomy for index rectal cancer.
|
23358792 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |