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: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 Biomarker disease BEFREE Pathogenic variants in mismatch repair (MMR) genes (<i>MLH1, MSH2</i>, <i>MSH6</i> and <i>PMS2</i>) increase risk for Lynch syndrome and related cancers. 31391288 2020
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 PosttranslationalModification disease BEFREE This new case of concomitant presence of MLH1 promoter hypermethylation and MLH1 germline mutation demonstrates that the presence of MLH1 promoter hypermethylation should not rule out the diagnosis of Lynch Syndrome. 31745674 2020
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation disease BEFREE Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice. 31491536 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 Biomarker disease BEFREE On reviewing the archived MLH1-IHC slides, we observed the same dot-like pattern in two CRCs; in both cases the M1-clone had been used. 31402167 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation disease BEFREE Lynch syndrome accounts for 3-5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. 31745674 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation disease BEFREE Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. 31209889 2020
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease BEFREE Mismatch repair deficiency is strongly associated with responsiveness to anti-PD-1 in other cancers and can be detected using immunohistochemistry for MLH1, MSH2, MHS6, and PMS2. 31702999 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 PosttranslationalModification disease BEFREE This new case of concomitant presence of MLH1 promoter hypermethylation and MLH1 germline mutation demonstrates that the presence of MLH1 promoter hypermethylation should not rule out the diagnosis of Lynch Syndrome. 31745674 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 GeneticVariation disease BEFREE Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice. 31491536 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.600 Biomarker disease BEFREE Pathogenic variants in mismatch repair (MMR) genes (<i>MLH1, MSH2</i>, <i>MSH6</i> and <i>PMS2</i>) increase risk for Lynch syndrome and related cancers. 31391288 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.500 GeneticVariation disease BEFREE Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. 31209889 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 GeneticVariation disease BEFREE In an analysis of data from almost 4000 carriers of Lynch syndrome-associated mutations, we found history of gastric cancer to be independently associated with male sex, older age, mutations in MLH1 or MSH2, and with having a first-degree relative with gastric cancer. 31319185 2020
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.300 PosttranslationalModification disease BEFREE These results suggest that chromate exposure might induce MLH1 hypermethylation in LC as a mechanism of chromate-induced carcinogenesis. 31579968 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.200 AlteredExpression disease BEFREE Down regulation of MLH1 gene expression/loss of the MLH1 protein (OR 12; CI 2.8-53.1) was observed in BC cases, illustrating its potential role in disease development. 31701475 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.200 AlteredExpression disease BEFREE Down regulation of MLH1 gene expression/loss of the MLH1 protein (OR 12; CI 2.8-53.1) was observed in BC cases, illustrating its potential role in disease development. 31701475 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Moreover, loss of the MLH1 protein was found to be associated with higher grade cancer (P = 0.02) and lymph node positivity (P = 0.03), highlighting its essential role, as a component of the mismatch repair (MMR) machinery. 31701475 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE In conclusion, EVs shuttled miR-31-5p can transfer resistance information from sorafenib-resistant cells to sensitive cells by directly targeting MLH1, and thus magnify the drug resistance information to the whole tumor. 31259424 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 PosttranslationalModification group BEFREE The methylation level of MLH1 promoter was significantly higher in chromate LC tumors (P < .001) than nonchromate LC tumors and, among chromate LC, significantly higher in tumorous tissue than nontumorous tissue (P = .004). 31579968 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 PosttranslationalModification disease BEFREE These results suggest that chromate exposure might induce MLH1 hypermethylation in LC as a mechanism of chromate-induced carcinogenesis. 31579968 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 PosttranslationalModification phenotype BEFREE These results suggest that chromate exposure might induce MLH1 hypermethylation in LC as a mechanism of chromate-induced carcinogenesis. 31579968 2020
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.100 Biomarker disease BEFREE When MMR proteins were studied separately, MLH1/PMS2 loss was related to deep myometrial invasion (p=0.019 and p=0.036, respectively) and MSH6 loss to lymph-node metastases (p=0.04). 31786870 2020
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.100 GeneticVariation disease BEFREE Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. 31209889 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.100 GeneticVariation disease BEFREE In an analysis of data from almost 4000 carriers of Lynch syndrome-associated mutations, we found history of gastric cancer to be independently associated with male sex, older age, mutations in MLH1 or MSH2, and with having a first-degree relative with gastric cancer. 31319185 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Moreover, loss of the MLH1 protein was found to be associated with higher grade cancer (P = 0.02) and lymph node positivity (P = 0.03), highlighting its essential role, as a component of the mismatch repair (MMR) machinery. 31701475 2020
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 PosttranslationalModification disease BEFREE These results suggest that chromate exposure might induce MLH1 hypermethylation in LC as a mechanism of chromate-induced carcinogenesis. 31579968 2020