Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Enhanced expression of cyclooxygenase-2 and nuclear beta-catenin are related to mutations in the APC gene in human colorectal cancer. 11396184

2001

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Our studies disclose an increased HNPCC-extracolonic tumors incidence and improved overall survival in MSS-HNPCC families. 24061861

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE These data imply that relatives of CRC cases with MLH1 methylation may be at increased risk of CRC and stomach cancer and possibly ovarian and liver cancer, suggesting that there may be a heritable factor for CRC and other cancers associated with MLH1 methylation in non-Lynch syndrome CRCs. 22144422

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Our results suggest that APC polymorphisms might be associated with CRC in the Chinese Han population. 22796397

2012

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Familial adenomatous polyposis (FAP), caused by a mutation in the APC gene, is a colorectal cancer predisposition syndrome associated with several other clinical conditions. 12721244

2003

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Although very rare in the population, MSH2*1906G>C is found at an increased frequency in young Jewish patients with colorectal cancer. 12595050

2003

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE The APC promoter is hypermethylated in 18% of primary sporadic colorectal carcinomas (n = 108) and adenoma (n = 48), and neoplasia with APC methylation fails to express the APC transcript. 10969779

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Germline mutations in the DNA mismatch repair (MMR) genes MSH2, MSH6, or MLH1 predispose to colorectal cancer (CRC) with an autosomal dominant inheritance pattern. 15887099

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE The risk of colorectal cancer in carriers of such EPCAM deletions is comparable to that of MSH2 mutation carriers, and is in accordance with a high expression of EPCAM in colorectal cancer stem cells. 23264089

2013

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE A subset of sporadic CRCs display microsatellite instability (MSI) that is associated with MLH1 silencing due to promoter methylation. 12833454

2003

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Consequently, we assessed the methylation status of CDKN2A/p16, MGMT, MLH1 and p14(ARF) in adenomas arising in the Lynch syndrome, a familial colon cancer syndrome caused by MLH1 and MSH2 mutations, to determine if DNA methylation is a "second hit" mechanism in CRC and to characterize the role of DNA methylation in the polyp phase of the Lynch syndrome. 17278092

2007

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE To investigate the effect of wild-type hMLH1 in cellular proliferation, wild-type hMLH1 cDNA was introduced into human colorectal carcinoma cell line HCT116 and human gastric carcinoma cell line SNU-1, each containing a homozygous non-sense mutation at codon 252 and 226 in hMLH1, repectively. 9472100

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE We included a total of 19 MSH2-negative colorectal carcinomas from 14 different patients in whom we were able to perform a complete germ-line analysis. 23026194

2013

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE We investigated the relationship between hMLH1 promoter hypermethylation and MGMT promoter hypermethylation in 110 colorectal cancers using methylation-specific polymerase chain reaction. 16436636

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE We also tested whether other significant genetic or clinical status involved in CRC development, such as APC and TP53 mutations, MSI and TNM-Duke's staging, were related with the observed BRAF- or K-ras associated expression profiles. 16219636

2006

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE MYC gene overexpression was identified recently as a downstream step at the end of the Wnt/APC/beta-catenin pathway dysregulation observed in colorectal cancer (T-C. 10383126

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE By this method, we have been able to detect somatic mutations of the APC gene in 57% of colorectal cancers and none in non-small cell lung cancers. 10854222

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE BRAF mutation and the loss of MLH1 protein were observed in the colorectal cancer, but not in the other serrated polyps around the colorectal cancer, suggesting that colorectal cancer with microsatellite instability develops rapidly from a specific serrated polyp with distinct molecular properties. 22438407

2012

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Hereditary non-polyposis colorectal cancer (HNPCC or Lynch syndrome) is characterized by early occurrence of colorectal malignancies, localization of tumors in the proximal colon, frequency of multiple primaries (both synchronous and metachronous) and an autosomal dominant type of genetic transmission. 8644370

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
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: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons. 19951906

2010

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE Loss of expression of p16 was found in 30 % of CRC with methylation of the MLH1 promoter, but its expression was retained in all non-methylated and part of MLH1-methylated tumors (100 % specificity, 30 % sensitivity). 27220764

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE This is the first genetic study of CRC in this region of the world to demonstrate the incidence of MSI, p16 methylation, and hMLH1 and MSH2 expression in the Omani population. 18299982

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 PosttranslationalModification BEFREE Earlier studies have reported the incidence of BRAF mutations in the range of 5-20% in colorectal carcinomas (CRC) and are predominantly seen in the serrated adenoma-carcinoma pathway characterized by microsatellite instability (MSI-H) and hypermethylation of the MLH1 gene in the setting of the CpG island methylator phenotype (CIMP). 25005754

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. 9087566

1997