TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE This enabled successful estimation of TP53 penetrance for three LFS cancer types: breast (BR), sarcoma (SA), and others (OT), from 186 pediatric sarcoma families collected at MD Anderson Cancer Center. 31719101 2020
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE We have outlined nine bone and soft tissue sarcomas for which TP53 plays a crucial tumor suppressive role. 31276706 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Although neither of these two genes have been previously associated with sarcoma, ABCB5 has been shown to share clinical drug resistance associations with melanoma and leukaemia and C16orf96 shares regulatory elements with genes that are involved with TNF-alpha mediated apoptosis in a p53/TP53-dependent manner. 31053105 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The sarcoma also harbored a somatic TP53 mutation: c.844C > T, p.R282W. 29315962 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE In the absence of Kras mutations, injury of the muscle with global deletion of p53 results in sarcomas with amplification of chromosomal regions encompassing the Met or Yap1 gene. 30333301 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas. 28475293 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in <i>CDKN2A</i> tumour suppressor gene. 28592523 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE This approach has facilitated the identification of novel AT-rich interaction domain 1A gene mutations in ovarian clear cell carcinoma, frequent tumor protein 53 (<i>TP53</i>) gene mutations in high-grade ovarian serous carcinoma, and Kirsten rat sarcoma and B-rapidly accelerated fibrosarcoma proto-oncogene, serine/threonine kinase gene mutations in low-grade ovarian serous carcinoma. 28454214 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Many malignancies display amplification of MDM genes encoding negative regulators of p53 and therefore much effort to date has concentrated on the development of molecules that inhibit MDM2, the most advanced of which are being tested in clinical trials for sarcoma, glioblastoma, bladder cancer and lung adenocarcinoma. 28927521 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The germline and somatic <i>TP53-</i>mutant variants were enriched in the transcriptomes for both sarcomas. 27683180 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Sarcoma physicians (N = 124) from 21 countries participated, 40% of whom favored TP53 mutation testing in children regardless of family history, increasing to ∼83% for all age groups if a family history was present and ∼85% if multiple primary cancers were present. 26923110 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE To investigate whether TP53 DNA mutational status impacts progression-free survival (PFS) in patients with advanced sarcomas (soft tissue sarcoma) treated with vascular endothelial growth factor receptors (VEGFR) inhibition. 26646755 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Nutlin inhibits TP53-MDM2 interaction and is under investigation in soft-tissue sarcomas (STS) and other malignancies. 26427052 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Correlations of telomere length, P53 mutation, and chromosomal translocation in soft tissue sarcomas. 26191279 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Tumor cells were diffusely positive for p53 and focally positive for epithelial markers and EGFR, but were negative for thyroid transcription factor-1, suggesting an initial diagnosis of primary pleomorphic sarcoma. 26045851 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE The aim of this study was to explore the efficacy and define mechanisms of action of PRIMA-1(MET) as a TP53 targeted therapy in soft-tissue sarcoma (STS) cells. 26463477 2015
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE This case identifies a possible role of p53 dysfunction in the dedifferentiation process of SFT as reported in other sarcomas. 25015562 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The present meta-analysis of currently available data suggests that the p53 codon 72 polymorphism may not play a role in sarcoma development in Caucasians. 24449505 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Known genetic events in these tumors are mutations in TP53 (atypical fibroxanthoma and pleomorphic dermal sarcoma) and RAS (pleomorphic dermal sarcoma) genes, often having a UV signature. 24030750 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Of these target genes, the GADD45A promoter region was shown to be hypermethylated in 82% of wild-type TP53 sarcomas that did not respond to Nutlin-3a, thereby providing mechanistic insight into the innate ability of sarcomas to resist apoptotic death following Nutlin-3a treatment. 24336067 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Genetic depletion of Snail1 in MSCs that are deficient in p53 tumor suppressor downregulates MSC markers and prevents the capability of these cells to originate sarcomas in immunodeficient SCID mice. 24947186 2014
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The mutation status of TP53 and expression of MDM2, TP53, and their genetic variants SNP309 and R72P (Arg72Pro) were investigated in 125 sarcoma patient samples and 18 sarcoma cell lines. 23165797 2013
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer. 23612572 2013
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Both Tp53(Δ11/+) and Tp53(Δ11/Δ11) rats developed a wide spectrum of tumors, most commonly sarcomas. 22917926 2013