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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE We examined the influence of MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A and EXO1 c.1765G>A polymorphisms, involved in DNA mismatch repair (MMR), on head and neck (HN) squamous cell carcinoma (SCC) risk and prognosis. 25598504 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE The hMLH1 -93G>A promoter polymorphism is associates with outcomes in oral squamous cell carcinoma patients. 25047469 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 PosttranslationalModification disease BEFREE The frequency of promoter hypermethylation found on these DNA repair genes was elevated, with a higher prevalence of methylation of MLH1 gene in 72% of squamous cell carcinoma. 24360395 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE Statistically significant increased frequency of MLH1 allelic loss in squamous cell carcinoma (SCC) versus non-squamous cell carcinoma (non-SCC) was observed (p = 0.01). 23504373 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease BEFREE hMSH2 and hMLH1 gene expression patterns differ between lung adenocarcinoma and squamous cell carcinoma: correlation with patient survival and response to adjuvant chemotherapy treatment. 22865300 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Relation between its altered expression linked to microsatellite instability has also been observed in oral leukoplakias (OL) and squamous cell carcinomas pointing to a possible role of hMLH1 in oral carcinogenesis. 20969633 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE (i) Immunohistochemical staining was used to assess expression of the MMR proteins MSH2 and MLH1 in cutaneous SCCs from OTRs on azathioprine and from immunocompetent patients. 19818066 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Immunoexpression of hMSH2 and hMLH1 in oral squamous cell carcinoma and its relationship to histological grades of malignancy. 18331286 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Low hMLH1 expression prior to definitive chemoradiotherapy predicts poor prognosis in esophageal squamous cell carcinoma. 18053639 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease LHGDN Significance and mechanism of microsatellite instability in laryngeal squamous cell carcinoma. 17711772 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Inactivation of human mutL homolog 1 and mutS homolog 2 genes in head and neck squamous cell carcinoma tumors and leukoplakia samples by promoter hypermethylation and its relation with microsatellite instability phenotype. 17219447 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE The aim of the study was to assess hMSH2 and hMLH1 gene mutations, microsatellite DNA alterations, and investigate the association between these alterations and clinicopathological features of oral squamous cell carcinomas (SCC) in a sample of Thai patients. 16918138 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease LHGDN Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer. 14767526 2004
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease LHGDN Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer. 15083191 2004
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 PosttranslationalModification disease LHGDN Promoter hypermethylation and inactivation of hMLH1, a DNA mismatch repair gene, in head and neck squamous cell carcinoma. 12605036 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 PosttranslationalModification disease LHGDN To test whether a subset of esophageal squamous cell carcinomas (SCC) develop through a deficiency in DNA mismatch repair, we examined microsatellite instability (MSI) using 11 microsatellite markers including BAT-26, hMLH1 protein expression by immunohistochemistry, and methylation status of the hMLH1 promoter by methylation-specific polymerase chain reaction (MSP). p53 mutations were also investigated. 12713560 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Reduced MLH1 expression after chemotherapy is an indicator for poor prognosis in esophageal cancers. 14555508 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease BEFREE To test whether a subset of esophageal squamous cell carcinomas (SCC) develop through a deficiency in DNA mismatch repair, we examined microsatellite instability (MSI) using 11 microsatellite markers including BAT-26, hMLH1 protein expression by immunohistochemistry, and methylation status of the hMLH1 promoter by methylation-specific polymerase chain reaction (MSP). p53 mutations were also investigated. 12713560 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE Our results suggest: i) that MSI plays a role in the pathogenesis of Korean oral cancers, squamous cell carcinomas (4%) and salivary gland tumors (20%); ii) that genetic alteration or hypermethylation of the hMLH1 gene may be the principal inactivating mechanism in Korean oral cancer with MSI; and iii) that inactivation of the p53 gene by either mutation or HPV infection is frequent in Korean squamous cell carcinomas (26%) and salivary gland tumors (40%). 12118324 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE In the present study 28 skin lesions from 17 patients (20 sebaceous gland tumors, 4 sebaceous hyperplasias, 3 keratoacanthomas, and 1 squamous cell carcinoma) were tested immunohistochemically with antibodies against MSH2 and MLH1. 11859205 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Mlh1 immunoreactivity was observed in 10 of 14 (71.4%) NISCCs and in 8 of 23 (34.8%) ISCCs (P < 0.04). 10999751 2000