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Genes (41)
Species:
human : 41 | |
| Human | NEIL2 | 252969 | nei endonuclease VIII-like 2 (E. coli) | A novel missense variant C367A and several other mutations were found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC | | Human | ARL11 | 115761 | ADP-ribosylation factor-like 11 | CONCLUSIONS: A genetic variant of ARLTS1 predisposes patients to familial cancer. Familial cancer and ARLTS1. Familial cancer associated with a polymorphism in ARLTS1. A genetic variant of ARLTS1 predisposes patients to familial cancer Familial cancer and ARLTS1. | | Human | PALB2 | 79728 | partner and localizer of BRCA2 | Deleterious PALB2 mutations are unlikely to play a significant role in hereditary prostate cancer results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development | | Human | NEIL1 | 79661 | nei endonuclease VIII-like 1 (E. coli) | A T434+2C mutation was found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC | | Human | ELAC2 | 60528 | elaC ribonuclease Z 2 | Single nucleotide polymorphisms associated with hereditary prostate cancer | | Human | MLH3 | 27030 | mutL homolog 3 (E. coli) | in absence of hPMS2, hMLH3 (hMutLgamma) is located in the nucleus, suggesting a conditional activity in MMR and supporting its role as a low-risk gene in hereditary non-polyposis colorectal cancer MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria | | Human | AMACR | 23600 | alpha-methylacyl-CoA racemase | Our results confirm an initial report of association between the AMACR gene and the risk of familial prostate cancer | | Human | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | A G44T missense mutation was found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC | | Human | CHEK2 | 11200 | checkpoint kinase 2 | Whereas inactivating mutations of CHEK2 previously have been described in a variety of sporadic tumors and in inherited cancer-predisposing syndromes, PPP2R2A, encoding a regulatory subunit of the multimeric enzyme phosphatase 2, has not been directly implicated in tumorigenesis. CHEK2 protein mutation is not clinically important high risk gene for hereditary prostate cancer susceptibility in the population of Southern Sweden Given the low expected mutation rate of up to 1.4% for CHEK2 * 1100delC in the European population the data are suggestive for possible contribution of CHEK2 mutations to a small subset of Familial pancreatic cancer Recently, heterozygous germline mutations in Chk2 have been identified in a subset of patients with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype, suggesting that Chk2 is a tumor suppressor gene. | | Human | EXO1 | 9156 | exonuclease 1 | hPMS2 accounts for a small proportion of Hereditary non-polyposis colorectal cancer families, and none were deemed to be associated with hEXO1 | | Human | UNG | 7374 | uracil-DNA glycosylase | A novel missense variant C262T was found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC | | Human | TP53 | 7157 | tumor protein p53 | Isoleucine 31-type p53 may be partly involved in familial gastric cancer because of its low transcriptional activity and low cell proliferation suppressing activity | | Human | TOC | 7149 | tylosis with oesophageal cancer | The tylosis esophageal cancer (TOC) locus: more than just a familial cancer gene. | | Human | TDG | 6996 | thymine-DNA glycosylase | A novel missense variant A196G was found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC | | Human | STK11 | 6794 | serine/threonine kinase 11 | LKB1 is a serine-threonine protein kinase mutated in patients with an autosomal dominantly inherited cancer syndrome predisposing to multiple benign and malignant tumours, termed Peutz-Jeghers syndrome. | | Human | AURKA | 6790 | aurora kinase A | results support the role of AURKA Ile31 as a low penetrance colorectal cancer susceptibility factor; study shows for the first time that the preferential amplification of 91A is observed more frequently in familial colorectal cancer | | Human | SLC10A2 | 6555 | solute carrier family 10 (sodium/bile acid cotransporter), member 2 | Common variants of the SLC10A2 gene are not associated with sporadic or familial colorectal cancer | | Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | These neuroendocrine tumors are major components of three inherited cancer syndromes: multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and pheochromocytoma/paraganglioma syndrome (PC/PGL). | | Human | RNASEL | 6041 | ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) | results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis of sporadic and familial pancreatic cancer RNase L could have a role in cancer biology and evidence of a tumor suppressor function of RNase L has emerged from studies on the genetics of hereditary prostate cancer [review] | | Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | hPMS2 accounts for a small proportion of Hereditary non-polyposis colorectal cancer families, and none were deemed to be associated with hEXO1 | | Human | NKX3-1 | 4824 | | Germ-line sequence variants in NKX3.1 may play a role in susceptibility to hereditary prostate cancer and underscore a role for NKX3.1 as a prostate cancer gatekeeper | | Human | NF2 | 4771 | neurofibromin 2 (merlin) | The neurofibromatosis 2 (NF2) tumour suppressor gene: implications beyond the hereditary tumour syndrome? | | Human | MUTYH | 4595 | mutY homolog (E. coli) | the prevalence of pathogenic MUTYH mutations was increased among familial colorectal cancer patients compared to sporadic colorectal cancer and controls | | Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | MSH2 missense mutations in Hereditary Non-Polyposis Colorectal Cancer are described the recombinogenic sequences in the MSH2 5' region may be involved in hereditary non-polyposis colorectal cancer Eighteen germline mutations (50%) were identified, 9 in MLH1 and 9 in MSH2, in Hungarian hereditary non-polyposis colorectal cancer (HNPCC) and suspected-HNPCC families We sequenced the MLH1/MSH2 coding and promoter core regions in patients with cancers suggestive of hereditary non-polyposis colorectal cancer, and correlated deleterious mutations with clinical and tumour features | | Human | MPG | 4350 | N-methylpurine-DNA glycosylase | C147G and C342G missense mutations and a 5'-UTR 1-27 insT were found in familial colorectal cancer DNA suggesting a limited role for this gene in the devlopment of CRC |
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