|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The MSI/IHC results on his tumor tissue were reported as abnormal and subsequent blood draw revealed the presence of a germline MSH6 mismatch repair gene mutation.
|
20379851 |
2010 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results emphasize the suitability of IHC as a pre-selection tool for MSH6 mutation analysis and the high frequency of germline mutation detection in patients with MSH6-deficient tumors.
|
14974087 |
2004 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This loss affected MLH1 in 28, MSH2 in 22, and MSH6 in 21 tumors (with MSH6 as the only loss in 4 tumors).
|
14652751 |
2004 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Therefore, we conclude that the prevalence of MSH6 mutations among patients with MSI-L tumors is very low.
|
25432668 |
2015 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We performed immunohistochemistry (IHC) for MMR proteins hMLH1, hMSH2, and hMSH6 in all 35 tumors and microsatellite instability (MSI) studies in 34/35 tumors using 10 microsatellite markers in paired normal and tumor DNA.
|
15855819 |
2005 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Tumor DNA microsatellite instability and immunohistochemistry testing for the expression of mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2 was offered to all patients.
|
28498244 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Tumor MMR status was determined for all patients based on reported findings for mutL homolog 1 (MLH1), postmeiotic segregation (PMS2), mutS homolog 2 (MSH2), and MSH6 immunohistochemistry; and defective MMR (dMMR) status was defined as the lack of expression of at least 1 of these proteins.
|
30561762 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Immunohistochemically, the tumor exhibited isolated loss of staining with the mismatch repair protein MSH6.
|
28118159 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
MSI was found in 43 (13.8%) tumors.Absence of repair protein expression was assessed in 52 (17.0%) tumors, which had primarily lost hMLH1 in 39 (12.7%), hMSH2 in 5 (1.6%), and hMSH6 in 8 (2.6%) tumors.
|
19154585 |
2009 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The tumour showed loss of expression of MSH2 and MSH6 on immunohistochemistry.
|
23299928 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Frameshift mutations were detected more frequently in BAX (11 of 24 MI positive (+) tumors; 45.8%) than in TGF-beta RII (0 of 24 tumors; 0%), IGFIIR (3 of 24 tumors; 12.5%), hMSH3 (6 of 24 tumors; 25%), or hMSH6 (0 of 24 tumors; 0%).
|
10820351 |
2000 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The patient's tumor showed loss of expression of MSH2 and MSH6 proteins with normal microsatellite stability.
|
23255519 |
2013 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability.
|
24040339 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This variability took the form of different mutant alleles (TGFBRII, BAX, MSH3) or mutations present in some but not all regions of a tumor (MSH6, IGFIIR, BAX, MSH3).
|
10469448 |
1999 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These results indicate that mutations in the mono-nucleotide tracts of hMSH3 and hMSH6 are infrequent in ovarian endometrioid adenocarcinomas, other mechanisms may play a more important role in the development of these tumors.
|
15547740 |
2004 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
By immunohistochemistry, the tumor was p53-wild type (DO-7 clone), diffusely positive for p16 (block positivity), and showed retained expression of PTEN, MSH2, MSH6, MLH1, and PMS2.
|
28945609 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Five (6%) out of 79 tumors were MSI-H and 15 (19%) were MSI-L. Two MSI-H tumors showed insertion in the (C)8 region in the hMSH6 gene and one tumor showed insertion and deletion in the (A)8 region in the hMSH3 gene, and two of the three above tumors showed MSI in tri-and tetranucleotide repeats.
|
10665647 |
1999 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP in 38.9% of cases.
|
22722469 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic analysis revealed that the tumor had homozygous gene mutation of MEN1 associated with pituitary tumorigenesis and mutS homolog 6 (MSH6) gene.
|
28701629 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The patient whose tumor was MSH6 deficient was alive without evidence of disease 51 months after surgery.
|
24625417 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Thereafter, to confirm the accuracy of this assay, we examined 317 colorectal cancer (CRC) specimens, comprising of 105 dMMR [45 MutL homolog (MLH)1-deficient, 45 MutS protein homolog (MSH)2-deficient, and 15 MSH6-deficient tumors] and 212 MMR-proficient (pMMR) tumors as a test set.
|
29329588 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, target genes have a specific timing of mutation in this process: TGFbetaRII is involved in the early phases, while BAX and MSH6 are frequently associated with big size shifts and tumors with more advanced stages.
|
10719374 |
2000 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results and those of others suggest that DNA mismatch repair genes, such as hMSH3 and hMSH6, are targets for the mutagenic activity of upstream mismatch repair gene mutations and that this enhanced genomic instability may accelerate the accumulation of mutations in RER+ tumors.
|
9401011 |
1997 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The simultaneous loss of MSH6 and of activation-induced cytidine deaminase did not appreciably affect the survival of these animals, suggesting that these germinal center-like tumors arose by an activation-induced cytidine deaminase-independent pathway.
|
20934970 |
2010 |