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 GeneticVariation group BEFREE Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. 23255406 2013
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE APC mutated (Min) mice develop large and small bowel adenomas, a small proportion of which, in time, become malignant. p53 deficient mice develop predominantly lymphoma and sarcoma. 7478622 1995
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Because these rare tumors also respond poorly to standard chemotherapy and bear a 50% 5-year mortality rate, we investigated the possible therapeutic benefits of p53 gene restoration in sarcomas. 10766348 2000
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
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Cancer Res., 4: 1985-1994, 1998; M. Milas et al., Cancer Gene Ther., in press, 2000) have shown that the restoration of wild-type (wt) p53 enhances cell cycle control in vitro and inhibits the growth of human soft-tissue sarcoma in severe combined immunodeficient mice. 10910082 2000
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Clinically relevant TP53 germline mutations were identified in three of the four patients (75%) with a family history of at least two LFS-linked cancers (breast, bone or soft tissue sarcoma, brain tumors or adrenocortical cancer); 1 of the 17 patients (6%) with a family history of breast cancer only, and 1 of the 62 patients (< 2%) with no family history of breast or LFS-linked cancers. 22507745 2012
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Collectively, these findings indicate that radiation is causative for soft tissue sarcomas via p53 gene mutations. 9645763 1998
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Compared with other highly malignant mesenchymal pediatric tumors such as osteosarcomas, mutations of p53 and ras in Ewing's sarcomas are an extraordinarily rare event. 9587933 1998
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 Dual Pten/Tp53 suppression promotes sarcoma progression by activating Notch signaling. 23708211 2013
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Early sarcoma (at age <20 years) was associated with missense mutations in exons encoding the DNA-binding domain of p53 protein. 21837677 2012
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE For 64 cases the results were concordant: 56 sarcomas were considered to have wild-type p53 by both techniques. 8821948 1996
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 AlteredExpression group BEFREE Four affected members of the family with sarcoma or premenopausal breast cancer showed increased expression of p53 protein in their normal tissues as detected by immunohistochemistry. 7981072 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE Four recurred as immature or mature teratoma and one as a sarcoma; all except one showed frequent cells positive for p53 in the recurrent tumor. 12202994 2003
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Functional P53 Arg72Pro and MDM2 T309G single-nucleotide polymorphisms (SNP) are considered to have significant effects on risk of sarcomas. 22205265 2012
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Furthermore, p53 loss of heterozygosity was observed in 26 out of 29 implant-induced sarcomas (90%). 16857722 2007
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Genes that are frequently mutated in sarcoma include TP53, NF1, PIK3CA, HDAC1, IDH1 and 2, KDR, KIT and MED12. 22387046 2012
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 Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations. 23824362 2013
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. 12610779 2003
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Germline TP53 mutations predispose to a rare familial cancer syndrome, the Li-Fraumeni Syndrome (LFS), characterized by the early onset of multiple cancers including childhood adrenocortical carcinomas, sarcomas and brain tumors, and breast and colon cancer in young adults. 18248785 2008
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Germline TP53 mutations are found in Li-Fraumeni syndrome (LFS) patients, predisposed to soft tissue sarcoma and other malignancies. 21484931 2011
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 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 Germline mutations in the p53 tumor suppressor gene are associated with the Li-Fraumeni syndrome, characterized by childhood sarcoma, leukemia and early onset breast cancer and has occasionally been found also in familial breast-ovarian cancer. 8710380 1996