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 CausalMutation group CGI
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group HPO
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 CausalMutation group CLINVAR
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 AlteredExpression group BEFREE Two of the sarcomas with rearranged genes expressed levels of p53 protein that were elevated relative to other tumors. 2823272 1987
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Abnormalities of the p53 gene were found in several classes of soft tissue sarcoma, including leiomyosarcomas, rhabdomyosarcomas and malignant fibrous histiocytomas. 2216456 1990
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE In contrast, no alteration of the p53 gene was detected in 50 samples from other types of sarcomas. 2253237 1990
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE In particular, the discovery of tumor suppressor gene syndromes, such as Rb1 gene and p53 gene defects manifested in "cancer families," were made possible by their association with sarcomas, otherwise rare tumors. 1932226 1991
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 In contrast to reported findings for other types of cancer, we found that mutations of the p53 gene in sarcomas are quite heterogeneous both in their distribution throughout the gene and in the type of genetic alterations that result. 1423262 1992
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE The p53 positivity in MFHs and other types of sarcoma indicates that p53 gene alterations may play a part in the neoplastic transformation of these tumours. 1333524 1992
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE While "cancer families" are rarely identified when screening close relatives of sarcoma patients, the discovery of the currently known tumor suppressor gene syndromes associated with germ line retinoblastoma gene and p53 gene defects were made possible by their association with sarcomas. 1511024 1992
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 Biomarker group BEFREE The p53 and MDM2 genes were analyzed in 24 human soft tissue sarcomas (11 malignant fibrous histiocytomas and 13 liposarcomas). 8387391 1993
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 Biomarker group BEFREE The results indicate that the TP53 gene is involved in the tumorigenesis of several sarcoma subtypes in a higher fraction of cases than was previously recognized. 8425179 1993
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE We report here on the first set of ten such families, eight of which were identified through a proband with sarcoma. p53 exons 5 to 8 have been sequenced following polymerase chain reaction amplification performed on DNA isolated from total blood. 8425176 1993
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 AlteredExpression group BEFREE Specific overexpression of P53 in sarcoma derived from Rat-1 cells transformed by cigarette smoking condensate-treated human fetal lung DNA. 7722886 1994
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
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE We suggest that c-myc amplification and TP53 mutations do not seem to coparticipate in the tumorigenesis of sarcomas. 8076351 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE The most common cancers occurring in the 41 families with germline p53 mutations, in common with classic LFS, were bone and soft tissue sarcoma, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma, although less than one-half of the probands with germline p53 mutations came from classic LFS families. 8118819 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 AlteredExpression group BEFREE This study was designed to determine the prevalence and potential clinical value of detected molecular abnormalities and altered patterns of expression of mdm2 and p53 genes in adult soft tissue sarcomas. 8306343 1994
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 AlteredExpression group BEFREE Overexpression of p53 was seen in 27 of 46 sarcomas (59%), including 26 of 41 (63%) mixed mesodermal tumors, one of four (25%) leiomyosarcomas, and zero of one endometrial stromal sarcoma. 8272291 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 AlteredExpression group BEFREE We examined the potential clinical relevance of p53 overexpression in adults with soft-tissue sarcomas. 8133539 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE Our knowledge of the molecular biology of sarcomas has progressed considerably over the past year, with major emphasis on the role of p53 and MDM2 gene mutations. 7803538 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
1.000 GeneticVariation group BEFREE However, there is little information about the clinicopathologic significance of alterations of the p53 gene in soft tissue sarcomas (STS). 8174045 1994