Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Recent studies suggest that MI in many cell lines or xenografts derived from sporadic colorectal carcinomas is not attributable to mutations in four known human DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1, and hPMS2). 7585634 1995
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Although an RER positive phenotype in tumours can also result from somatic mutations in an MMR gene, the prevalence of RER + tumours should provide a maximum estimate of the incidence of germline MMR gene mutations in patients with early onset and familial colorectal cancer. 9004127 1996
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Microsatellite instability (MSI) is intrinsic to most colorectal carcinomas (CRC) from patients with hereditary nonpolyposis colorectal cancer (HNPCC), reflecting germline mutations in the mismatch-repair (MMR) genes. 9291442 1997
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE However, reports of mismatch repair (MMR) gene mutations in families not fulfilling the minimal diagnostic criteria point out the necessity to identify additional clinical parameters suggestive of genetic predisposition to colorectal cancer (CRC) related to MMR defects. 9506527 1998
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Microsatellite instability (MIN) due to defective mismatch repair (MMR) genes has been reported in a subset of sporadic colorectal carcinomas and in the majority of tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. 9542742 1998
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 AlteredExpression disease BEFREE Further studies with newly diagnosed patients before they begin therapy will provide more convincing data about the role of MMR gene expression in the etiology of colorectal cancers in Egypt. 9592192 1998
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Thus, MSI and germline MMR gene mutation is present in a subset of young glioma patients, and these patients and their family members are at risk of developing other hereditary nonpolyposis colorectal cancer syndrome-related tumors, in particular colorectal carcinomas. 9777949 1998
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 PosttranslationalModification disease BEFREE However, hypermethylation of the hMLH1 MMR gene promoter is quite common in MSI-positive endometrial and colorectal cancers. 10070967 1999
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE To investigate the frequency of germline alterations of the DNA MMR genes hMLH1 and hMSH2 among African Americans affected by HNPCC and early-age onset colorectal cancer. 10386556 1999
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Germline mutations in MMR genes are associated with Hereditary non-polyposis colorectal carcinoma (HNPCC) and somatic mutations in these genes are also found in a substantial fraction of colorectal cancers (CRC). 10470121 1999
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Lynch syndrome displays many curious features that cannot be accounted for by the prevailing concepts of carcinogenesis and genetics: (1) CRCs occur preferentially in the right side of the colon, whereas the majority of sporadic cases develop in the left colon; (2) the increased risk of CRC is not associated with an increased incidence of adenomatous polyps, which are necessary precancerous lesions in the development of common CRCs; (3) the tumor spectrum in Lynch syndrome is restricted to the colon and some extracolonic sites, whereas the responsible MMR genes are ubiquitously expressed; (4) the tumor risk, which is negligible during childhood, becomes significant during adulthood at the age of 25 and thereafter remains essentially constant throughout the ages. 10549359 2000
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE MSI in CRC at very early onset (age <35 years) appears useful to predict germline MMR gene defects. 10601588 2000
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE The discovery of DNA mismatch repair (MMR) genes, inclusive of hMSH2, hMLH1, hPMS2, and hMSH6, has enabled the identification of who has and who does not have inordinately increased susceptibility to CRC as well as a litany of extracolonic cancers. 10630171 1999
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 AlteredExpression disease BEFREE The MSI-H phenotype, observed in both hereditary nonpolyposis colon cancer-associated CRC and approximately 15% of sporadic CRC, generally results from mutational or epigenetic inactivation of the DNA mismatch repair (MMR) genes hMSH2 or hMLH1. 10786688 2000
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE We identified 6 (17%) MSI-H tumors with germline mutations in mismatch repair (MMR) genes (tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC) syndrome) and 29 (83%) MSI-H tumors without germline MMR mutations (sporadic MSI-H tumors). 11376800 2001
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 AlteredExpression disease BEFREE A comprehensive analysis of somatic and germline mutations related to DNA mismatch-repair (MMR) genes can clarify the prevalence and mechanism of inactivation in colorectal carcinoma (CRC). 11524701 2001
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Hereditary nonpolyposis colorectal cancer (HNPCC) is the most frequent hereditary form of colorectal cancer and is caused by germline mutations in mismatch repair (MMR) genes. 11754112 2002
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Individuals with a germ-line mutation in one of the DNA mismatch repair (MMR) genes are at significant risk for colorectal cancer and other tumors. 11809679 2002
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 Biomarker disease BEFREE In conclusion of our results and a critical review of literature, the prognostic importance of the MMR genes in sporadic colorectal carcinomas remains controversial. 11918085 2002
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 AlteredExpression disease BEFREE These findings confirm that examination of MMR protein expression by immunohistochemistry is a simple method to diagnose colorectal cancer with MSI. 12741892 2003
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE The role of MSI in colorectal tumorigenesis was assessed further in this study by both microsatellite analysis of two CRC subsets [unselected patients (n = 215) and patients <50 years of age (n = 95)], and mutation screening of the two major MMR genes MLH1 and MSH2 among familial CRC cases. 14504054 2003
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 Biomarker disease BEFREE The MMR gene hMLH1 commonly is inactivated in both EC and CRC. 14508843 2003
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Defects in the mismatch repair (MMR) genes hMLH1 and hMSH2 have been found in 10% to 20% of sporadic colorectal carcinomas and also many cases of hereditary nonpolyposis colorectal cancer syndrome. 14576472 2003
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 GeneticVariation disease BEFREE Hereditary nonpolyposis colorectal cancer (HNPCC) represents 2-4% of colorectal cancers and is caused by a constitutional defect in a mismatch repair (MMR) gene, most commonly affecting the genes MLH1, MSH2, and MSH6. 14652751 2004
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.100 Biomarker disease BEFREE The focus of this review is to summarize the functions of APC and MMR gene products in the development of colorectal cancers. 14672538 2003