|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four of 49 ACs (8.2%) were TMB-high/MSI-high and showed loss of MLH1 and PMS2.
|
31256008 |
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 |
AlteredExpression
|
disease |
BEFREE |
Tumors in subgroup 1 were characterized by MSI-high status, a hypermethylated epigenome, and loss or reduction of expression of MLH-1.
|
27236438 |
2017 |
|
MSI-high
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
High miR-31 expression, MLH1 methylation and MSI-high status were more frequently detected in SSAs from elderly patients than in those from non-elderly patients.
|
25632919 |
2015 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.
|
25602793 |
2015 |
|
MSI-high
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins.
|
24518125 |
2014 |
|
MSI-high
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
MSI (high and low) was associated with 48.4% of CRC patients, and a significantly higher proportion of promoter hypermethylation of hMLH1 and hMSH2 genes was associated with instable tumors.
|
24408015 |
2014 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Surgically resected 1720 colorectal carcinoma specimens were screened by microsatellite instability (MSI) testing and the MSI-high cases were subjected to a germline mutation analysis of the mismatch repair genes MLH1, MSH2 and MSH6.
|
24100870 |
2013 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings, in conjunction with the previously reported MSI-high appendiceal carcinomas, highlight the low prevalence of MSI in the appendix as compared with the right colon and suggest that MLH1 promoter methylation is not a mechanism for MSI in this location.
|
23648460 |
2013 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MLH1 c.1664T>C (p.Leu555Pro) VUS co-segregated with three cases of classic Lynch syndrome-associated malignancies over two generations, with consistent loss of MLH1 and PMS2 protein expression on IHC, and evidence of the MSI-High mutator phenotype.
|
23712482 |
2013 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, a somatic BRAF mutation was detected in one affected child, indicating that tumors from patients carrying constitutional MLH1 epimutation can mimic MSI-high sporadic tumors.
|
21953887 |
2012 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on the NCI/ICG-HNPCC criteria for MSI classification, 40 CRCs were found to be MSI-high (11.8%), 46 (13.5%) CRCs were MSI-low, and 254 CRCs (74.7%) were stable (MSS).
|
22108904 |
2012 |
|
MSI-high
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Out of the 38 tumors from 19 hMLH1-negative MSGCs, 12 tumors from six cases (31.6%) showed concurrent methylation of hMLH1 and MSI-high in both multiple tumors.
|
22513802 |
2012 |
|
MSI-high
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Distal MSI-high CRCs showed significantly more frequent association with younger age, male gender, differentiated histology, small tumor size, distant metastasis, stability in BAT25 and BAT26, and hMLH1 expression on immunohistochemical staining as compared with proximal MSI-high CRCs.
|
20049642 |
2010 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MSI was found in three cell lines and two cell lines with an MSI-high phenotype-possessed hMLH1 mutations.Nine cell lines had an APC mutation.
|
20176655 |
2010 |
|
MSI-high
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of six patients with Bethesda-positive criteria was MSI-High with immunohistology consistent with MLH1 mutation.
|
21287799 |
2010 |
|
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 |
PosttranslationalModification
|
disease |
BEFREE |
In order to establish the role of each of the 4 genes in Slovenian Lynch syndrome patients, we performed MSI analysis on 593 unselected CRC patients and subsequently searched for the presence of point mutations, larger genomic rearrangements and MLH1 promoter hypermethylation in patients with MSI-high tumours.
|
19526325 |
2009 |
|
MSI-high
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations.
|
17973265 |
2008 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunostaining for MLH1 and mutS homologue 2 (MSH2) had a sensitivity of 92.4 per cent and a specificity of 99.6 per cent for identifying MSI-high tumours.
|
18457354 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
Overall, IHC with MLH1 and MSH2 antibodies detected 69% of MSI-H tumors with a specificity of 100%.
|
17460459 |
2007 |
|
MSI-high
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This was significantly associated with the MSI-high phenotype (P < 0.01) and loss of hMLH1 expression (P < 0.01).
|
16436636 |
2006 |
|
MSI-high
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
These results were compared with those for two different groups of sporadic endometrial carcinoma--women younger than age 50 years (n = 42) and women of all ages with tumors demonstrating microsatellite instability (MSI-high) secondary to methylation of MLH1 (n = 26).
|
16323174 |
2006 |
|
MSI-high
|
0.100 |
Biomarker
|
disease |
BEFREE |
We therefore assessed the expression of the MMR proteins MLH1 and MSH2 in a series of 59 Barrett adenocarcinomas and found a loss of MMR protein immunostaining in 2/59 (3%) tumors; one tumor showed a loss of MSH2 expression, the other tumor showed a loss of MLH1, and both tumors displayed an MSI-high phenotype.
|
15676154 |
2005 |