|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
|
20444249 |
2010 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.
|
16769400 |
2006 |
|
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 |
Microsatellite instability is prone to occur in sporadic right colon carcinoma during tumor growth and is not associated significantly with mutations in the hMLH1 and hMSH2 mismatch repair genes or in the p53 gene.
|
9731891 |
1998 |
|
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 |
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 |
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 |
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 |
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 |
Our results show that germline mutations of hMSH2 and hMLH1 genes contribute to a significant fraction of familial predisposition to colon cancer cases that do not fulfil all diagnostic criteria of HNPCC.
|
9399661 |
1997 |
|
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 |