|
Adenoma
|
0.080 |
GeneticVariation
|
group |
BEFREE |
This adenoma was found to have 2 somatic mutations in MSH6.
|
30063919 |
2018 |
|
Adenoma
|
0.080 |
GeneticVariation
|
group |
BEFREE |
In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N=195), or both adenomas and hyperplastic polyps (N=123) versus polyp-free controls (N=624), we investigated the role of hMLH1-93G>A, hMLH1 I219V, and hMSH6 G39E polymorphisms in increasing the risk of colorectal polyps.
|
16771955 |
2006 |
|
Adenoma
|
0.080 |
Biomarker
|
group |
BEFREE |
The preserved MSH6 function might be essential for the responsiveness to TMZ treatment in pituitary carcinomas and atypical adenomas.
|
23955641 |
2014 |
|
Adenoma
|
0.080 |
Biomarker
|
group |
BEFREE |
Mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are implicated in the pathogenesis of the syndrome through microsatellite instability (MSI) and a rapid adenoma-carcinoma sequence.
|
27990589 |
2017 |
|
Adenoma
|
0.080 |
Biomarker
|
group |
BEFREE |
No second hit of MSH6 is apparent in any of the adenomas, due to retained MSH6 nuclear expression and a lack of microsatellite instability.
|
17039270 |
2007 |
|
Adenoma
|
0.080 |
Biomarker
|
group |
BEFREE |
MSI testing and IHC for MLH1, MSH2, and MSH6 were performed.MSI was detected in 23 adenomas.
|
19324997 |
2009 |
|
Adenoma
|
0.080 |
GeneticVariation
|
group |
BEFREE |
However, patients with variants in MSH6 had a significant longer time to development of advanced neoplasia (advanced adenoma or CRC) than patients in the other groups.
|
31470178 |
2019 |
|
Adenoma of large intestine
|
0.010 |
Biomarker
|
disease |
BEFREE |
The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.
|
16890597 |
2006 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We outline evidence supporting the pathogenicity of the identified hMSH6 mutation (arg772trp) and suggest possible etiologies for the unexplained colonic adenomatous polyposis.
|
18176851 |
2008 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Fifty-six subjects had pathogenic variants associated with Lynch syndrome (25 with mutations in MSH2, 24 with mutations in MLH1, 5 with mutations in MSH6, and 2 with mutations in PMS2) and 10 subjects had pathogenic variants associated with familial adenomatous polyposis.
|
29146522 |
2018 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the patients brother who is also compound heterozygous for MUTYH but lacks the MSH6 germline mutation presented with a full blown polyposis coli.
|
17039270 |
2007 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation.
|
15264268 |
2004 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively.
|
30324682 |
2018 |
|
Adenomatous Polyposis Coli
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.
|
16890597 |
2006 |
|
Adenomatous Polyps
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analysis showed that expression of both MSH2 and MSH6 proteins was lost in the cancer cells of the 2 mutation carriers but only MSH6 protein expression was lost in 2 adenomatous polyps.
|
14520694 |
2003 |
|
Adult Anaplastic Oligodendroglioma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The second patient was diagnosed with a non-Hodgkin lymphoma (no tissue available) and an anaplastic oligodendroglioma (low MSI; no MSH6 expression) at age 4 years and 6 years, respectively.
|
17440981 |
2007 |
|
Adult Anaplastic Oligodendroglioma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to temozolomide resistance independently of MGMT promoter methylation.
|
25078279 |
2014 |
|
Adult Glioblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Further sequencing revealed that in addition to the germline MSH6 mutation, the first glioblastoma showed loss of the MSH6 wild-type allele, and the second glioblastoma carried a somatic MSH6 mutation [c.1403G>A; p.Arg468His].
|
28922847 |
2017 |
|
Adult Glioblastoma
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
Formerly, we found evidence of prognostic impact of MLH1 and MSH6 immunohistochemical expression in a small series of patients with initial glioblastoma.
|
24995467 |
2015 |
|
Adult Glioblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to temozolomide resistance independently of MGMT promoter methylation.
|
25078279 |
2014 |
|
Adult Glioblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
In vitro modeling through exposure of an MSH6 wild-type glioblastoma line to temozolomide resulted in resistant clones; one clone showed an MSH6 mutation, Thr(1219)Ile, that had been independently noted in two treated TCGA glioblastomas.
|
19584161 |
2009 |
|
Adult Glioblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
A high frequency of MSH6 G268A polymorphism and survival association in glioblastoma.
|
23057844 |
2013 |
|
Adult Glioblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Specific attention should be given on the role of MLH1 and MSH6 in patients with glioblastoma recurrence during temozolomide treatment.
|
20223108 |
2010 |
|
Adult Glioblastoma
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
We investigated whether glioblastoma recurrence is associated with changes in the promoter methylation status and the expression of MGMT and the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 in pairs of primary and recurrent glioblastomas of 80 patients, including 64 patients treated with radiotherapy and TMZ after the first operation.
|
21425258 |
2011 |
|
Adult Glioblastoma
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
MSH6 mutation was not observed in any pretreatment glioblastoma (0 of 40), whereas 3 of 14 recurrent cases had somatic mutations (P = 0.015).
|
17404084 |
2007 |