Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
|
11555625 |
2001 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes.
|
18556776 |
2008 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
|
28640387 |
2017 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The level of invasive front immune cell staining was significantly higher in mismatch-repair-deficient tumors compared to mismatch-repair-proficient tumors (p < 0.001), but no difference was observed among the different subtypes of mismatch-repair-deficient tumors: Lynch syndrome-associated vs. MLH1-methylated vs. unexplained.
|
30166615 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The reference tumor group contained 28 HNPCC with proven germ-line mutations or positive Amsterdam I criteria (median age, 37 years) and loss of MLH1 expression, 14 sporadic MSI-H CRC tumors with loss of MLH1 expression and BRAF V600E mutation (median age, 80.5 years), and 16 sporadic MSS CRC (median age, 76.5 years).
|
17545526 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
When BRAF was wild type in the MSI-H group, only one MLH1 promoter methylation was detected (1/4), and of the remaining three cases without MLH1 methylation, two were identified to harbor an MLH1 mutation consistent with Lynch syndrome.
|
23963522 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This suggests that hMLH1 may have different functions in certain tissues and/or that additional factors may modify the influence of hMLH1 mutations in causing Lynch syndrome.
|
19142183 |
2009 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
In order to better understand the role of somatic and germline alterations within hMSH2 and hMLH1 in the process of colorectal tumorigenesis, we examined the entire coding regions of both of these genes in seven patients with MIN+ sporadic colorectal cancer, 19 patients with familial colorectal cancer, and 20 patients meeting the strict Amsterdam criteria for HNPCC.
|
8872463 |
1996 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These results showed that MSH2/MLH1 rearrangements in Spanish patients at risk for HNPCC seem to be a less frequent mutational event than in other populations.
|
16003840 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
We sought to determine whether tumor microsatellite instability (MSI) typing along with immunohistochemistry (IHC) and MLH1 methylation analysis can help identify women with LS.
|
26552419 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
Germline mutations within mismatch repair genes, such as hMSH2, hMLH1, and hMSH6, have been shown to be the hallmark of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome.
|
11561760 |
2001 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have used denaturing gradient gel electrophoresis to analyze the 19 exons and exon-intron borders of hMLH1 in 39 Swedish hereditary nonpolyposis colorectal cancer families.
|
8521398 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Hereditary nonpolyposis colorectal cancer (HNPCC) represents 2-4% of colorectal cancers and is caused by a constitutional defect in a mismatch repair (MMR) gene, most commonly affecting the genes MLH1, MSH2, and MSH6.
|
14652751 |
2004 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines.
|
16 |
1975 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
|
16395668 |
2006 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
PosttranslationalModification
|
disease |
BEFREE |
Six hundred and fifty-four consecutive CRC patients were screened for suspected LS using MSI and absence of MLH1 methylation.
|
30989425 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
|
15849733 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DNA mismatch repair gene MLH1 are a major cause of hereditary nonpolyposis colorectal cancer (HNPCC).
|
17260015 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
|
27629256 |
2017 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
21642682 |
2011 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It has been reported that large genomic deletions in the MLH1 and MSH2 genes are a frequent cause of Lynch syndrome in certain populations.
|
21778331 |
2011 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.
|
17054581 |
2006 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
|
16941473 |
2006 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
Biomarker
|
disease |
BEFREE |
We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our centre for HNPCC.
|
15655560 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |