Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE In 2015, our institution implemented universal screening of endometrial cancer (EC) hysterectomy specimens by mismatch repair immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression. 29107668 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Mismatch repair (MMR)-deficient endometrial carcinomas (ECs) bearing Lynch syndrome (LS)-associated germline mutations or sporadic MLH1 promoter hypermethylation (MLH1hm) are highly immunogenic and may represent excellent candidates for therapies targeting the programmed cell death (PD)/programmed cell death ligand-1 (PD-L1) immune checkpoint pathway. 27984238 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. 28514183 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE Epigenetic silencing of MLH1 in endometrial cancers is associated with larger tumor volume, increased rate of lymph node positivity and reduced recurrence-free survival. 28709704 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Whereas some ECs are due to germline Lynch syndrome (LS)-associated mutations, the majority demonstrate sporadic MLH1 promoter hypermethylation (MLH1hm). 27513077 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE MLH1 methylation analysis identifies women with tumor MLH1 loss who likely have sporadic endometrial cancer and do not need heightened cancer prevention surveillance. 28820751 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker disease BEFREE Here we describe our institution's experience with a prospective universal screening protocol in which all ECs resected over a period of 19 months (n=242) were screened for MLH1, PMS2, MSH2, and MSH6 deficiencies using IHC, followed by MLH1 promoter methylation testing when appropriate. 27556954 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker disease BEFREE To evaluate the expression of four genetic markers (PTEN, BCL2, MLH1, and CTNNB1), linked to endometrial carcinogenesis, in endometrial polyps of patients with and without postmenopausal bleeding in order to determine whether symptomatic endometrial polyps have a genetic phenotype similar to that of endometrial cancer. 28622040 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Furthermore, those with truncating MLH1 mutations could begin endometrial cancer surveillance later than those with nontruncating mutations. 28772289 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE DREMECELS was designed considering the malignancies with frequent alterations in DNA repair pathways, that is, colorectal and endometrial cancers, associated with Lynch syndrome (also known as HNPCC). 27276067 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE We suggest that MLH1 promoter methylation analysis for IL-PMS2 EC should be performed to exclude sporadic cases before further PMS2 genetic testing. 26848797 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 AlteredExpression disease BEFREE CCNE1 amplification was independent of p53, HER2, MLH1 and ARID1A expression but dependent on PTEN expression in endometrial carcinomas. 26647729 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE We analyzed immunohistochemistry of MMR proteins (MLH1/MSH2/MSH6/PMS2) and MLH1 promoter methylation in primary endometrial carcinomas from 221 consecutive patients. 26644264 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE Our findings support a recommendation for universal screening of ECs utilizing 2-antibody testing with MLH1 promoter methylation testing as indicated up to 60 years or older. 27327152 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). 27363726 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression. 25871621 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker disease BEFREE Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE MSI is also observed in about 15 % of sporadic colorectal cancer (CRC), gastric cancer (GC), and endometrial cancer (EC), and at lower frequencies in other cancers, often in association with hypermethylation of the MLH1 gene. 25701956 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE Of 20 tumors lacking MLH1 protein expression, 14 cases were judged sporadic EC because of the hypermethylated MLH1 promoter. 25745978 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 GeneticVariation disease BEFREE A total of 253 individuals with an MMRD CRC or EC from one institution were included for analysis in one of four groups: LS; MMRD+/germ-line-; MMRD tumor with variant of uncertain significance (MMRD+/VUS); and sporadic MSI-H (MMRD tumor with MLH1 promoter hypermethylation or BRAF mutation). 25341111 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker disease BEFREE Endometrial cancers from 173 patients recruited to the Nanchong Central Hospital were tested for MMR (MLH1, MSH2, PMS2, and MSH6) protein expression using immunohistochemistry (IHC). 25400828 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE Hypermethylation of miR-203 is a frequent event in endometrial carcinomas and is strongly associated with microsatellite instability and MLH1 methylation status. 24530564 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker disease BEFREE In this study, we investigated the frequency of BAF250a immunohistochemical loss in a cohort of high-grade endometrial cancers (n=190) and correlated it with mismatch repair (hMLH1, hMSH2, hMSH6, and hPMS2) and p53 protein expression. 23887303 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 PosttranslationalModification disease BEFREE This review shows that BRAF mutations occurs so infrequently in endometrial tumours they can be discounted as a useful marker for predicting MMR-negative mutation status, and further studies of endometrial cohorts with known MMR mutation status are necessary to quantify the utility of tumour MLH1 promoter methylation as a marker of negative germline MMR mutation status in EC patients. 23880961 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 AlteredExpression disease BEFREE Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation in MLH1-deficient cases. 24323032 2014