Genes (49)
Species:
human : 49 | |
| Human | LOC390998 | 390998 | ribosomal protein L10 pseudogene | Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer | | Human | COPD | 260431 | Pulmonary disease, chronic obstructive, severe early-onset | Development of COPD correlates with mini- and microsatellite locus instability | | Human | FLCN | 201163 | folliculin | Mutations in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability | | Human | PCNXL2 | 80003 | pecanex-like 2 (Drosophila) | Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability | | Human | MLH3 | 27030 | mutL homolog 3 (E. coli) | Title:MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.|Association:Y|Conclusion:Not Found | | Human | AXIN2 | 8313 | axin 2 | epigenetic silencing of AXIN2 is specifically associated with carcinogenesis in colorectal carcinoma with microsatellite instability Frameshift mutations of Wnt pathway genes AXIN2 and TCF4 in gastric carcinomas with high microsatellite instability are reported | | Human | PRDM2 | 7799 | PR domain containing 2, with ZNF domain | Frameshift mutations of RIZ may play an important role in gastric cancers with microsatellite instability | | Human | XRCC1 | 7515 | X-ray repair complementing defective repair in Chinese hamster cells 1 | The XRCC1 RNA expression was correlated with microsatellite instability status in colorectal cancer tissues | | Human | WRN | 7486 | Werner syndrome, RecQ helicase-like | WRN methylation is associated with mucinous differentiation independent of CPG island methylator phenotype and microsatellite instability status | | Human | TYMS | 7298 | thymidylate synthetase | Microsatellite instability and the association with plasma homocysteine and thymidylate synthase was determined in colorectal cancer | | Human | TP53 | 7157 | tumor protein p53 | results suggest that the development of endometrial carcinoma is probably mediated through a multi-step carcinogenesis pathway and mutation of TP53 does not necessarily result from the presence of microsatellite instability in BAT26 COX-2 and p53 may have roles in microsatellite instability in colorectal cancer results suggest that microsatellite instability and p53 mutations are involved in tumor progression of dermatofibrosarcoma protuberans to fibrosarcoma as early and late events, respectively p53 mutations and microsatellite instability differ in patients with gallbladder carcinoma between two distinct high-incidence areas Alterations in TGF-betaRII, BAX, IGFIIR, caspase-5, hMSH3 and hMSH6 genes of microsatellite instability are rare in urinary bladder carcinoma and they are not associated with microsatellite instability or the presence of p53 mutations A high proportion of familial microsatellite instability cases and a lower incidence of TP53 mutations were found in Saudi colorectal carcinoma Results correlate P53 status and mutation site/type with nuclear protein accumulation, clinicopathologic variables and data on K-ras mutations and high-level microsatellite instability | | Human | TERT | 7015 | telomerase reverse transcriptase | no link between telomerase activity and microsatellite instability status; patients with telomerase negative tumors had better overall survival | | Human | TCF7L2 | 6934 | transcription factor 7-like 2 (T-cell specific, HMG-box) | Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability characterization of the TCF4 with microsatellite instability (MSI) in colon cancer and leukemia cell lines; results delineate a novel role for MSI+TCF4 in leukemia and colon cancer progression | | Human | HNF1A | 6927 | HNF1 homeobox A | role for HNF1 in microsatellite instability status in colorectal carcinogenesis | | Human | AURKA | 6790 | aurora kinase A | Aurora-A amplification was strongly associated with a high fractional allelic loss score (p = 0.0001), but not with microsatellite instability, nor with the promoter methylation phenotype in colorectal cancer | | Human | RB1 | 5925 | retinoblastoma 1 | K-RAS point mutations, and anomalies of p16-RB1-cyclin D pathway could occur before LOH on 10q23 (PTEN) and microsatellite instability during tumor progression | | Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | COX-2 and p53 may have roles in microsatellite instability in colorectal cancer | | Human | PTEN | 5728 | phosphatase and tensin homolog | Microsatellite instability (MSI) leading to the functional inactivation of the PTEN gene has also been reported for ovarian adenocarcinomas with frequencies varying from 6 to 37% Multiple PTEN mutations in the same tumor were more frequent in tumors with microsatellite instability | | Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | PMS2 defects account for a small but significant proportion of colorectal cancers and for a substantial fraction of tumors with microsatellite instability Mutations of this protein show microsatellite instability in human prostatic cancer | | Human | ABCB1 | 5243 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | MDR1/ABCB1 gene plays in the initiation and progression of high-microsatellite instability colorectal cancer development mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability | | Human | MUTYH | 4595 | mutY homolog (E. coli) | MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and underrepresentation of G>T transversions Biallelic germline mutation of MYH in colorectal cancer also demonstrated microsatellite instability as a result of biallelic hypermethylation of the MLH1 promoter | | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | Patients with microsatellite instability tumors had higher frequency of TT MTHFR C627T polymorphisms | | Human | MSH3 | 4437 | mutS homolog 3 (E. coli) | Title:Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability.|Association:Y|Conclusion:Not Found | | Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | In the inherited colon cancer syndrome hereditary non-polyposis colon cancer, microsatellite instability has been attributed to mutation in loci coding for hMSH2, wich is important redulators of the DNA mismatch repair system results indicated that the disruption of the mismatch repair system of Msh2 does not mainly lead to allelic loss of the FHIT/FRA3B locus as well as microsatellite instability in esophageal cancer Mutations of this protein show microsatellite instability in human prostatic cancer microsatellite instability Colorectal cancer patients with low Bcl-2 and hMLH1 and hMSH2 demonstrate a significantly shorter disease-free survival All hereditary nonpolyposis colorectal cancer patients displayed microsatellite instability, with the half losing hMLH2 expression The lack of association between MSH2 protein expression and Microsatellite instability in endometrial cancer samples was observed loss of MLH1 and MSH2 expression seen in approximately equal frequency in small intestine neoplasms with microsatellite instability No correlation between microsatellite instability and hMLH1, hMSH2 or P53 protein expression in basal cell carcinma was found The inactivation of the DNA-mismatch-repair-gene MSH2 and microsatellite instability may play a minor role in somatic colorectal cancer development This study investigates microsatellite instability in multiple primary colorectal cancers, and the relevance of MLH1, MSH2, and MSH6 gene expression in hereditary nonpolyposis colon cancer Microsatellite instability and modifications in the hMLH1 and hMSH2 genes are implicated in a significant proportion of the patients with head and neck cancer tumors harboring the mutation lacked the expression of MSH2 and showed high microsatellite instability Expression of MSH2 protein was significantly lower in patients with gastric cancer showing a high frequency of microsatellite instability | | Human | MRE11A | 4361 | MRE11 meiotic recombination 11 homolog A (S. cerevisiae) | MRE11 expression is impaired in gastric cancer with microsatellite instability |
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