MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 AlteredExpression disease BEFREE <b>Methods:</b> Bioinformatics were employed to analyze MSH6 mRNA and protein levels in GBM clinical samples and to predict the potential cancer-promoting functions and mechanisms of MSH6. 30867843 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 AlteredExpression disease BEFREE Our results suggest that increased expression of MSH6, or other MMR, may be a new mechanism contributing to the acquired resistance during TMZ therapy; and may serve as an indicator to the resistance in GBM. 29366782 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 AlteredExpression disease BEFREE High TML was only found in 3.5% of GBM patients (7 of 198) and was associated with the absence of protein expression of mutL homolog 1 (MLH1) (P = .0345), mutS homolog 2 (MSH2) (P = .0099), MSH6 (P = .0022), and postmeiotic segregation increased 2 (PMS2) (P = .0345) and the presence of DNA MMR mutations. 28371827 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 GeneticVariation disease BEFREE Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to temozolomide resistance independently of MGMT promoter methylation. 25078279 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 GeneticVariation disease BEFREE Of the 74 GBM patients, 50% (n = 37) harbored MSH6 G268A polymorphism, and no significant rates of other SNP or gene mutation across MSH6 exons were detected. 23057844 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 GeneticVariation disease BEFREE We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. 21674763 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 Biomarker disease BEFREE Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6). 21288634 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 AlteredExpression disease BEFREE The authors investigated the expression of both the MMR genes (hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6) at the transcriptional level through reverse transcription-polymerase chain reaction and the hMSH2 protein through Western blot and immunohistochemical analysis of tumor tissue and primary cell cultures of 25 in vitro human de novo GBMs without prior experimental treatment. 15481721 2004
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.200 Biomarker disease HPO