|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
All four adenomas showed retention of MLH1, MHS2 and MSH6 but complete loss of PMS2 in both low-grade and high-grade dysplasia areas.Two of the four adenomas were MSI-high, <i>BRAF V600E</i> wild type and were not <i>MLH1</i> methylated.
|
31649038 |
2019 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup>/normal MLH1 sequence.
|
28608265 |
2018 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
Prostate cancer was associated with mutations in MSH2, MLH1 and MSH6 with loss of the respective mismatch repair protein in 69 % of the tumors, though a MSI-high phenotype was restricted to 13 % of the tumors.
|
27013479 |
2016 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
All gastric and colonic carcinomas were MSI-high and lost expressions of MLH1/PMS2 in 11 (73%) cases and MSH2/MSH6 in 4 (27%) cases.
|
24518125 |
2014 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
MSH6 was absent in one pediatric MSI-High tumor, consistent with an inherited mismatch repair deficiency associated with germline MSH6 mutation.
|
21637783 |
2011 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of the MSI-high (MSI-H) cases, 96% had a mismatch repair (MMR) gene defect, mostly involving MSH2 or MLH1; one PMS2 mutation, one MLH1 epimutation, and no MSH6 mutations were found.
|
19690142 |
2009 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By incorporating seven mononucleotide repeats markers into the 10-marker panel, we were able to distinguish the carriers of MSH6 mutations (all scored (10)MSI-Low) from the MLH1 and MSH2 mutation carriers (all scored (10)MSI-High).
|
17504984 |
2007 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genes such as TGF-betaRII, IGFIIR, hMSH3, and hMSH6 include coding mononucleotide repeats that are known targets for mutations in MSI-high tumors.
|
17950544 |
2007 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of a germline MSH6 mutation is very low in HNPCC suspected patients with non-MSI-high CRC.
|
17117178 |
2006 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three of these six tumors indeed showed down-regulation of MLH-1, MSH-2, or MSH-6, indicating a MSI-high phenotype.
|
12480922 |
2002 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The present study shows that all endometrial carcinomas (n=12) from carriers of MLH1 and MSH2 germline mutations demonstrate an MSI-high phenotype involving all types of repeat markers, while in endometrial carcinomas from MSH6 mutation carriers, only 36% (4 out of 11) demonstrate an MSI-high phenotype.
|
11054716 |
2000 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the MSI-high group, one MSH6 missense mutation was found, but the same patient also had an MLH1 mutation, which may explain the MSI-high phenotype.
|
10521294 |
1999 |