Genes (21)
Species:
human : 20 mouse : 1 | |
| Mouse | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Contributions by both MLH1/MLH3 and MLH1/PMS2 complexes to mechanisms of mismatch repair-mediated tumor suppression, therefore, provide an explanation why, among MutL homologues, only germ line mutations in MLH1 are common in hereditary non-polyposis colon cancer. | | Human | CHEK2 | 11200 | checkpoint kinase 2 | The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. | | Human | RAD50 | 10111 | RAD50 homolog (S. cerevisiae) | microsatelite instability and alterations in the MRE11 and RAD50 repeats that are associated with the reduced protein expression and functional impairment of the MRE11-RAD50-NBS1 complex in Lynch syndrome | | Human | EXO1 | 9156 | exonuclease 1 | In one recent study, germline variants of EXO1 were reported to be associated with predisposition to colorectal cancer in families with phenotypes similar to hereditary nonpolyposis colon cancer (HNPCC). | | Human | TP53 | 7157 | tumor protein p53 | the p53 and MDM2 promoter polymorphisms do not appear to play a role on age of colorectal cancer onset in Lynch syndrome study indicated only p53 & RNASEL genotypes had significant influence on age of onset of Lynch syndrome in an additive mode of inheritance & that effects of both variants are purely additive supporting the notion that p53 & RNaseL pathways do not interact | | Human | RNASEL | 6041 | ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) | study indicated only p53 & RNASEL genotypes had significant influence on age of onset of Lynch syndrome in an additive mode of inheritance & that effects of both variants are purely additive supporting the notion | | Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Click here to display 55 evidence detail records. | | Human | PMS1 | 5378 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | Abnormalities in at least 1 of 5 mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1, hPMS2 and GTBP/hMSH6) are found in hereditary nonpolyposis colon cancer and sporadic colon cancers. To date, at least four genes involved in DNA mismatch repair (MMR) have been demonstrated to be altered in the germline of patients with hereditary nonpolyposis colon cancer: hMSH2, hMLH1, hPMS1, and hPMS2. Two additional MMR genes, MLH3 and PMS1, have also been proposed to play a role in Lynch syndrome predisposition, but the clinical significance of mutations in these genes is less clear. Hereditary nonpolyposis colon cancer (HNPCC) has been shown to be caused by mutations in the mismatch repair genes hMSH2, hMLH1, hPMS1, and hPMS2. These changes are also true for the nonpolyposis hereditary colorectal tumors, also called Lynch syndrome, since the responsible hMSH2, hMLH1, hPMS1 and hPMS2 genes have recently been cloned. Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch repair process. | | Human | NBN | 4683 | nibrin | microsatelite instability and alterations in the MRE11 and RAD50 repeats that are associated with the reduced protein expression and functional impairment of the MRE11-RAD50-NBS1 complex in Lynch syndrome | | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | the C677T polymorphism modifies the age at onset of colorectal cancer in Caucasian Lynch syndrome subjects with the 677T allele having a protective effect | | Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | The researchers found four germline mutations associated with the clinical phenotype of Lynch syndrome High frequency and diverse spectrum of large genomic alterations in hMSH2 in suspected Lynch syndrome patients 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 hMLH1/hMSH2 protein expression is constitutively higher in certain cell types of certain tissues, including the majority of tissues that are at increased risk of cancer in hereditary non-polyposis colon cancer (HNPCC) Four different MSH2 deletions (exons 1-2, exons 1-6, exons 1-7 and exon 8) have been found in Lynch syndrome patients 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 | | Human | MRE11A | 4361 | MRE11 meiotic recombination 11 homolog A (S. cerevisiae) | microsatelite instability and alterations in the MRE11 and RAD50 repeats that are associated with the reduced protein expression and functional impairment of the MRE11-RAD50-NBS1 complex in Lynch syndrome | | Human | MLH1 | 4292 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | Different molecular mechanisms underlie MLH1 sequence deletions in patients with Hereditary Nonpolyposis Colorectal Neoplasms High frequency and diverse spectrum of large genomic alterations in hMLH1 in suspected Lynch syndrome patients One MLH1 deletion (exons 3-6) has been found in Lynch syndrome patients results show methylation of MLH1 promoter doesn't exclude presence of germline mutation in mismatch repair gene; hypermethylation of MLH1 promoter may be present in most cases of sporadic colorectal cancer but does not exclude diagnosis of Lynch syndrome The researchers found three germline mutations associated with the clinical phenotype of Lynch syndrome hMLH1/hMSH2 protein expression is constitutively higher in certain cell types of certain tissues, including the majority of tissues that are at increased risk of cancer in hereditary non-polyposis colon cancer (HNPCC) MLH1 hypermethylation is reduntanly associated with colorectal cancers of Lynch-syndrome patients | | Human | MDM2 | 4193 | MDM2 oncogene, E3 ubiquitin protein ligase | the p53 and MDM2 promoter polymorphisms do not appear to play a role on age of colorectal cancer onset in Lynch syndrome | | Human | MSH6 | 2956 | mutS homolog 6 (E. coli) | The researchers found evidence of one germline mutation associated with the clinical phenotype of Lynch syndrome | | Human | CYP17A1 | 1586 | cytochrome P450, family 17, subfamily A, polypeptide 1 | Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms have roles in development of Lynch syndrome colon cancer | | Human | CYP1A1 | 1543 | cytochrome P450, family 1, subfamily A, polypeptide 1 | The 1462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify colorectal neoplasm age of onset by 4 years | | Human | COMT | 1312 | catechol-O-methyltransferase | Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms have roles in development of Lynch syndrome colon cancer | | Human | BRCA2 | 675 | breast cancer 2, early onset | PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). | | Human | BRAF | 673 | v-raf murine sarcoma viral oncogene homolog B | Somatic BRAF mutations in hereditary nonpolyposis colon cancer (HNPCC) are rarely observed. The current data showed instead that the BRAF V599E mutation was associated only with a subgroup of colorectal carcinomas with MSI that were obtained from older patients without hereditary nonpolyposis colorectal carcinoma and showed epigenetic silencing of hMLH1. Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. | | Human | BMPR1A | 657 | bone morphogenetic protein receptor, type IA | These rare genetic syndromes (FMP, HNPCC, Peutz-Jeghers Syndrome) are caused by major predisposing gene mutations (APC gene, MMR gene, BMPR1A. |
|
