Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The rate of patients with lesions containing both mutL homolog 1 (MLH1) methylation and microsatellite stable status was 66.7% in those with synchronous CRC, with at least one lesion with high microsatellite instability. 30842178

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE We also discuss the diagnostic and prognostic value of the APC gene in the pathogenesis of CRC for a better understanding of CRC disease. 30414835

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE Approximately 15% to 20% of colorectal cancers are developed through the serrated pathway of tumorigenesis, which is associated with BRAF mutation, CpG island methylation phenotype, and MLH1 methylation. 31199922

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Compared with the surrounding normal mucosa, SPTAN1 expression was reduced in MLH1-deficient CRCs, whereas MLH1-proficient CRCs showed a significant upregulation of SPTAN1. 30856214

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE To describe the frequencies of mismatch repair deficiency (dMMR), BRAFV600E mutations and MLH1 methylation in resected CRC, and evaluate the impact of universal screening on LS detection. 30667141

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE PET/CT-derived radiomics can provide supplemental information to determine KRAS, TP53, and APC genetic alterations in CRC. 29948642

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE The adenomatous polyposis coli (APC) gene plays a pivotal role in the pathogenesis of colorectal carcinoma (CRC) but remains a challenge for drug development. 30511962

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE In vitro experiments indicated that miR-144 decreased NRAS expression in different CRC cell lines (SW480, LoVo, and Caco2). 31693229

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE Six formalin-fixed paraffin-embedded CRCs developed within SSA/P were profiled for the immunohistochemical expression of MMR proteins (MLH1, MSH2, MSH6, PMS2, and Ep-CAM), p16, and β-catenin. 30738693

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Mutations of KRAS, NRAS, BRAF and DNA mismatch repair (MMR) status have become an important part of the assessment of patients with colorectal cancer (CRC), while respective clinicopathologic features and prognostic significance in specific stages and related detection strategies remain unclear. 31162857

2019

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. 29651783

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE We wanted to elucidate the role of <i>MLH1/MSH2</i> in the prediction and prognosis of CRC through long-term clinical observation. 31798786

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Although the presence of HER2 amplifications and oncogenic mutations in KRAS, NRAS, and BRAF are associated with EGFR-targeted therapy resistance, for a large population of CRC patients the underlying mechanism of RAS-MEK-ERK hyperactivation is not clear. 30858928

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). 30730459

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Many colorectal cancers (CRCs) that exhibit microsatellite instability (MSI) are not explained by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes, which cause Lynch syndrome (LS). 30989425

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE Notably, true tumor cell PD-L1 expression in colorectal carcinoma was rare, present in only 3 of 129 tumors (2.3%): 2 MLH1-methylated and 1 mismatch-repair-proficient with high tumor-infiltrating-lymphocytes; and the staining in the tumor cells in all 3 was diffuse (>=50% of the tumor). 30166615

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE MLH1 promoter methylation and V600E BRAF mutation analysis were investigated on 61 CRCs. 31609810

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE In this first report from Pakistan, we investigated the prevalence of pathogenic <i>MLH1/MSH2/MSH6</i> variants in colorectal cancer (CRC) patients. 31660093

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE In the multivariate setting, left-sided CRC only turned out as a significant positive prognostic parameter regarding progression-free survival, irrespective of the type of chemotherapy or BRAF and NRAS mutations. 30711966

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE In this study, we screened through a library of commercial and semisynthetic natural compounds to identify potential synthetic lethal drugs that may selectively target MLH1 mutants using MLH1 isogenic colorectal cancer cell lines and various cancer cell lines with known MLH1 status. 30897027

2019

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE We compared the development of (advanced) adenomas and CRC among patients with pathogenic variants in the DNA mismatch repair genes MLH1 (n=55), MSH2 (n=44), MSH6 (n=143), or PMS2 (n=22) over 1836 years of follow-up (median follow-up of 6 years per patient). 31470178

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE To further investigate the role of Wntless in tumorigenesis, APC-deficient spontaneous intestinal tumors and chemical induced colorectal cancer mouse models were employed. 31547988

2019

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation. 30723092

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE The remaining case was CIMP negative and MMR proficient in both the components, harbored a BRAF mutation in the SSA/P counterpart, whereas the CRC one was APC and TP53 mutated and showed p16 and β-catenin dysregulation. 30738693

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Genetic factors such as germline MLH1 and APC mutations have an aetiologic role, predisposing individuals to CRC. 31455888

2019