MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE Here, we report that MLH1-deficient CRCs exhibit reduced levels of the cytoskeletal scaffolding protein non-erythroid spectrin αII (SPTAN1), and that tumor progression and metastasis of CRCs correlate with SPTAN1 levels. 30856214 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 PosttranslationalModification phenotype BEFREE MLH1 promoter methylation correlated with age and microsatellite instability (MSI), but it was not associated with gender, H. pylori infection, smoking, drinking behaviors, pathological histology, tumor differentiation, clinical stage, lymph node status, distant metastasis, or overall survival of GC. 29334683 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE By multivariate analysis, only female gender (p = 0.03), high serum carcinoembryonic antigen (CEA) level (≧5 ng/ml) (p = 0.04), and MLH1 overexpression (p = 0.003) were associated with the metastasis group. 28411881 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers and was particularly strong in cancers with advanced pathological tumor stage (P < 0.0001 each), high Gleason grade (P < 0.0001 each), nodal metastasis (P ≤ 0.0083) and early biochemical recurrence (P < 0.0001). 27803051 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE We identified dMMR CRC resected at Ohio State University from 1999 to 2013 and stained a corresponding metastasis for all four MMR proteins (MLH1, MSH2, MSH6, PMS2) with IHC. 26666765 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Defective MLH1 or MSH2 expression was associated with poor prognostic factors, including a higher incidence of pelvic lymph nodes metastasis (P=0.018) and higher stage (P=0.022) for MLH1, and an increased risk of lymphovascular permeation (P=0.015) for MSH2. 26262451 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Although MLH1 has been shown to be not only involved in postreplicative MMR but also in several MMR independent processes like cytoskeletal organization, the connection between MLH1 and metastasis remains unclear. 24456667 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The aim of this article is to study the inhibitory effects of baicalin on the growth and metastasis of orthotopic xenografts consisting of human HCT-116 colorectal cancer cells that are deficient in the mismatch repair gene hMLH1 in nude mice. 22914965 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 PosttranslationalModification phenotype BEFREE hMLH1 promoter hypermethylation and MSI status in human endometrial carcinomas with and without metastases. 22552371 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE In MLH1-positive cases, combined high scores of CD133 and β-catenin were associated with a very high rate of distant metastases (94.4%), whereas the risk was intermediate for carcinomas with either low CD133 and/or low β-catenin expression (P = 0.0007). 22276605 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 PosttranslationalModification phenotype BEFREE Concomitant methylation of p16INK4a and hMLH1 was associated with TNM (tumour, lymph node and metastases) stage and tumour size (P=0.024 and 0.021 respectively). 20815811 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE In stage IV tumors re-expression of hMLH1/hPMS2 occurred, leading to different patterns of expression within the primary tumor and between tumor and metastases. 19845535 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype CTD_human Advanced CRC patients whose tumours have deficient MMR demonstrate a shorter time to metastasis than those with normal hMLH1/hMSH2 expression. 17717427 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE In MLH1-negative CRC, loss of APAF-1 was associated with metastasis (p-value=0.041), worse prognosis (p-value<0.001) and independently predicted shorter survival time (p-value<0.001). 17350821 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE No primary tumors exhibited hMLH1 MET, while 56.3% of secondary tumors showed hMLH1 MET. 17595760 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Loss of hMLH1 and hMSH2 protein was found in 43 (72%) and 39 (65%, P = .06) of 60 resected specimens, respectively. hMLH1 protein correlated well with tumor staging (P < .0001), depth of tumor invasion (P = .008), and nodal involvement (P < .0001) but not with distant metastasis, whereas hMSH2 did not show correlation with any of these parameters. 16256791 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype LHGDN Mutational analysis of MLH1 and MSH2 was performed in 17 melanoma brain metastases. 15161053 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE In addition, a correlation between hMLH1 reduced expression and nodal metastasis in squamous cell carcinoma of the lung was observed (P = 0.015). 10945633 2000