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 LHGDN High prevalence of p53 exon 4 mutations in soft tissue sarcoma. 17429838 2007
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE To our knowledge, our patient is the first patient having a bone infarct-associated sarcoma with a p53 gene mutation. 22041521 2011
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma. 10207667 1998
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group LHGDN In the absence of predisposition, TP53 was biallelically inactivated in one-third of the sarcomas, whereas at least one allele of RB1 was wild type. 17369843 2007
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 Sixty-two soft tissue sarcoma samples were investigated for the presence of p53 mutations and for p53 immunoreactivity. 8630896 1995
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE p53 gene mutations in soft-tissue sarcomas--correlations with p53 immunohistochemistry and DNA ploidy. 9177493 1997
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 GeneticVariation group BEFREE The studies also explored the occurrence of de novo constitutional deletion of p53 in sporadic childhood sarcomas. 17136003 2006
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 GeneticVariation group BEFREE These effectors were cross-reactive against sarcomas expressing p53 missense mutations outside of the p53(232-240) epitope, but not within it. 9419445 1998
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE These results demonstrated the dominance of the p53 mutations with null protein expression in bone and soft tissue sarcomas, showing a unique characteristic of these types of tumours compared with other malignancies such as colon carcinomas. 8260365 1993
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Germline mutations of the p53 coding region are present in approximately 50-70% of patients with Li-Fraumeni Syndrome (LFS), a rare hereditary disorder of familial and intraindividual clustering of different malignancies such as sarcoma (index tumor), breast cancer, brain tumors, leukemias, and adrenocortical carcinomas, the latter usually in young children. 12200603 2002
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE In this study, we assess the apparent generation effect on cancer incidence in ten extended families with P53 germline mutation, identified through probands diagnosed with childhood sarcoma. 16284780 2005
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Sarcomas represent a rational target for this approach given the high frequency of p53 mutations (40-75%) and MDM-2 amplification (10-30%). 15647767 2005
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 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 GeneticVariation group BEFREE Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. 17572079 2007
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE New germline mutations of the p53 gene are rare among patients with "sporadic" sarcoma but may be common in patients with sarcoma whose background includes either multiple primary cancers or a family history of cancer. 1565143 1992
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 LHGDN A high proportion (58%) of the radiation-induced sarcomas exhibited a somatic inactivating mutation for one allele of TP53, systematically associated with a loss of the other allele. 16492679 2006
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The 3 families with TP53 mutations included cases of childhood sarcoma or brain tumors in addition to multiple cases of breast cancer. 16551709 2006
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 It is concluded that 17p deletions and TP53 mutations are common events in adult soft tissue sarcomas and that due to the trends observed with the cohort of patients analyzed they may become prognostic markers for patients affected with these tumors. 8053493 1994