P53 gene mutation software and database developer

We therefore developed a locusspecific database software called umd p53. Databases and software for the analysis of mutations in the human p53 gene, human hprt gene and both the laci and lacz gene in transgenic rodents p53 gene mutation. The p53 gene is an important tumour suppressor gene. This database compiles all somatic and germline mutations as well as polymorphisms of the tp53 gene which have been reported in the published literature since 1989, or unpublished data submitted to the database curators. This can be seen as 50% of cancers have missense point mutations in the p53 gene, these mutations impair its anticancer gene inducing effects. The p53 gene is known to exhibit distinct mutational patterns in various cancer types, which may reflect etiologic contributions of exogenous environmental and or endogenous factors in the development of human cancers. A tp53 missense mutation data for human cancer patients n 19,262 were obtained from the p53 international agency for research on cancer iarc database and plotted as a function of amino acid position. Eight cases had mutations in exon 5, six had mutations in exon 6, two had mutations in exon 7 and one had mutations in exons 89. Instead, somatic mutation counts from tcga, icgc and genie datasets for each individual mutation is provided. The p53 protein is the most frequent target of genetic alterations in human cancers. Mutations can occur in regulatory regions also called promoter, that basically control how often, and when, the gene is transcribed. Canine mammary tumors are related to mutations in gene p53 and mutations mostly. The umd tp53 mutation database was created in 1990 and has. Another feature of this software is the possibility for the user to.

To assess tp53 mutation status it is recommended to perform gene sequencing of all exons, including the. This software was used for the creation and analysis of various mutation databases that have been described over the past few years. The tumor suppressor gene p53 is mutated or deleted in over 50% of human tumors. In this study, we applied an approach using gene repair with zinc finger nucleases zfns. The latest release of the p53 database contains 7434 mutations taken from 820 articles october 1997 table 1. Jul 01, 2010 a comparative study of p53 cdna and dna sequencing in colorectal cancer by forslund et al showed a higher, although not significant, frequency of p53 mutation detection using cdna sequencing as opposed to dna sequencing 10 mutations were found based only on the cdna sequence and 3 mutations were found based only on the dna sequence. Identification of a novel germline mutation in the tp53 gene in a. More than 50 percent of human tumors contain a mutation or deletion of the tp53 gene. Detection of p53 mutations in different cancer types is.

Mutations of the human p53 gene are of importance in the development of cancer. Mar 29, 2017 the p53 tumor suppressor gene is one of the most commonly mutated genes in human cancers. Novel mining of cancer via mutation in tumor protein p53. P53 is extremely well connected in network terminology it is a hub and knocking it out cripples the normal functioning of the cell. Links to cosmic, clinvar, gnomad and dbsnp have been updated. The insertion was accompanied by a small deletion of a 450 bp fragment containing 106 nucleotides of exon 5 and 350 nucleotides of intron 4. Databases and software for the analysis of mutations at the human hprt, human p53, transgenic bacterial laci and transgenic lacz genes a program for statistical comparison of mutational spectra. Tp53 gene mutation is the most frequent genetic alteration found in human cancer. For data on tp53 status in celllines, a new link to the depmap resource has been created. The tp53 gene can also be modified by mutagens chemicals, radiation, or viruses, increasing the likelihood for uncontrolled cell division.

This site still includes former features, such as tp53 history, tp53 information or the tp53 mutation database, but these features have been updated to take into account the most recent developments in this exciting field. Database and software for the analysis of mutations in the human p53 gene. Therapeutic effects of statins against lung adenocarcinoma. Software and database databases and software for the analysis of mutations in the human p53 gene, the human hprt gene and both the laci and lacz gene in transgenic rodents. Pdf database and software for the analysis of mutations in. The p53 gene has been reported as the gene most often mutated in human. Mutation of the tp53 gene alters its response pathway, and is central to the development of many cancers.

See detailed information on database contents in the users guide. Oct 10, 2017 p53 master switch remains top target in gene signaling network controlling cancer. The p53 colorectal cancer trial the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The new tp53 website has been launched with a novel design, updated information and improved readability. Using an international p53 mutation database as a foundation for an. A tumor suppressor gene located on the short arm of chromosome 17 that encodes a nucleophosphoprotein that binds dna and negatively regulates cell division. Expression signatures of tp53 mutations in serous ovarian cancers. P53 gene mutation have several different effects on the activity of the gene, depending on the location of the alteration. The latest release of the p53 database contains 7434 mutations taken from. This substantial increase since our previous report can enable epidemiological analyses which were not previously possible. A large number of different mutations in the tumor suppressor gene p53 gene have been identified in all types of cancer. The majority of p53 mutations are missense mutations, generally located in the central domain of the p53 coding region while other tumor suppressor genes pre.

A poliineomycin resistance cassette which lacked a polyadenylation signal was inserted into exon 5 of the gene. Missense or chain terminating null mutations in tp53 were found in 5989 66% ovarian. Analysis of p53 gene mutations in keloids using polymerase. Affymetrix u3a expression data was used to define gene expression patterns by mutation, type of mutation, and cancer stage. Inactivation of the p53 gene is essentially due to small mutations missense and nonsense mutations or insertionsdeletions of several nucleotides, which lead to either expression of a mutant protein 90% of cases or absence of protein 10% of casessee the special issue of human mutation devoted to p53 published in january 2002 for more information.

The tp53 coding region was sequenced in 89 frozen serous ovarian cancers, 40 early stage iii and 49 advanced stage iiiiv. Mutant p53 genes account for about half of all lung cancer cases. No additional software was needed to view the database. Gene p53 definition of gene p53 by the free dictionary. Learn vocabulary, terms, and more with flashcards, games, and other study tools. A data base is described in which over 2,500 mutations in the p53 gene of human tumors and tumor cell lines are compiled from a systematic search of reports published before 1 january 1994. Database of p53 gene somatic mutations in human tumors and. As of september 1995, this database contains over 4200 mutations.

Here mutation can result in a decrease or absence of p53 in the. Detection of mutations within exons 4 to 8 of the p53 tumor. Database and software for the analysis of mutations in the human p53 gene article pdf available in cancer research 5416. The umd tp53 variant database includes a full description of the 6,870 tp53 variants found in the database with 70 novel features associated with each tp53 variant. Database and software for the analysis of mutations at the human hprt gene. Mutation data from clinvar, june 2019 release, were curated. The p53 database was set up in 1991 and the first publication of the database in 1992 contained 300 mutations 5. The genetic most common mutation is in tumoursuppressor p53. Listing a study does not mean it has been evaluated by the u. Pmc free article laurentpuig p, beroud c, soussi t.

We adapted a commerciallyavailable yeast onehybrid y1h. The tp53 gene provides instructions for making a protein called tumor protein p53 or p53. Census and evaluation of p53 target genes oncogene. The umd tp53 mutation database includes the tp53 status of more than 80,400 tumors, individuals with germline mutations and cell lines. The iarc tp53 database compiles various types of data and information on human tp53 gene variations related to cancer. P53 tumor suppressor gene and herbs association of. Thirdly, the design of a database with a large number of point mutations has led to the development of a new field, i. A large number of different mutations in the p53 tumor suppressor gene have been identified in all types of cancer. A neomycin selection cassette was inserted into the second exon of the gene, disrupting the translation initiation codon. Mar, 2017 the tumor suppressor p53 functions primarily as a transcription factor. Germline mutations of the tp53 gene are known to cause lifraumeni. As functional p53 plays a pivotal role in protecting against cancer development, several strategies for restoring wildtype wt p53 function have been investigated. The p53 protein is located in the nucleus of cells throughout the body.

1025 210 976 757 851 1261 70 717 1377 968 50 1303 1048 269 1580 1190 374 372 448 404 1318 693 1311 1491 1397 716 219 1278 114 408 540 373 1472 693 1174 1169 1195 1423 1365 1307 1416 1456 1311 610