|
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 |
AlteredExpression
|
disease |
BEFREE |
Colon cancer tissue was assayed using immunohistochemistry for expression of hMLH1 and hMSH2, and a panel of five pairs of microsatellite primers (NR21, NR22, NR24, BAT25, and BAT26) for MSI-H analysis and additional dinucleotide markers (D17S250, D5S346, and D2S123) used for MSI-L.
|
18299982 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
A family history of breast/ovarian, HNPCC or colon cancer in a first degree relative was found in 40% of fallopian, 20% of biliary, 35% of pancreatic, 27% of urothelial and 20% of small bowel cancer patients.
|
14574163 |
2003 |
|
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 |
PosttranslationalModification
|
disease |
BEFREE |
A total of 864 tumors from individuals with colon cancer from Utah and Northern California were evaluated by methylation-specific polymerase chain reaction of CpG islands in hMLH1, methylated in tumors (MINT) 1, MINT 2, MINT 31, and CDKN2A (p16).
|
16143123 |
2005 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Aberrant methylation of the promoter CpG island of hMLH1 is associated with gene silencing in colon cancer and gastric cancer with microsatellite instabilities (MSI).
|
11935297 |
2002 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
|
8940269 |
1996 |
|
Colon Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among the original 519 patients, nine (all with colon cancer in the family) were diagnosed with HNPCC at the outset-six with MLH1 and three with MSH2 mutations.
|
15837969 |
2005 |
|
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 |
An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.
|
20978114 |
2010 |
|
Colon Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system.
|
21520332 |
2011 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Chromosomal autonomy of hMLH1 methylation in colon cancer.
|
11857087 |
2002 |
|
Colon Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Decreased expression of hMLH1 correlates with reduced 5-fluorouracil-mediated apoptosis in colon cancer cells.
|
17914563 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
|
20444249 |
2010 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability.
|
11729109 |
2001 |
|
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 |
Germ-line hMLH1 mutations are causally associated with inherited MSI colon cancer, and somatic mutations are causally associated with sporadic MSI colon cancer.
|
9671741 |
1998 |
|
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 |
Here we report the first proven de novo germ line mutation in MLH1 (c.666dupA) identified in a 31-year-old colorectal cancer patient with the alteration being present in a heterozygous state in all three germ layers and homozygously in his colon cancer.
|
16955466 |
2006 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Hypermethylation of the MLH1 promoter DNA was not evident in sections of normal colon from 10 people with no history of colon cancer.
|
16531764 |
2006 |
|
Colon Carcinoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability.
|
9699680 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.
|
28819720 |
2018 |