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: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE LOHs were also seen at the adenomatous polyposis coli (APC) locus (5q21-22) in subsets of these thymomas, whereas combined LOHs at the APC, retinoblastoma (13q14.3), and p53 (17p13.1) loci were confined to a subset of B3 thymomas that had possibly evolved from APC-hemizygous B2 thymomas by tumor progression; indeed, thymomas combing B2 plus B3 features are common. 12839963 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Absence of mutation in the p53 and the retinoblastoma susceptibility genes in primary cervical carcinomas. 8384745 1993
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Classical examples are the Rb-1 gene associated with the development of retinoblastoma and the p53 gene, which is associated with a wider range of neoplasms, including breast cancer. 1336726 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers. 8741802 1995
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Genes most commonly associated with the process of oncogenesis include: p53 inactivating mutation; hDM2 overexpression; p16 reduced expression; K-/H-RAS activating mutation; PTEN inactivating mutation/deletion; EGFR activating mutation and overexpression; retinoblastoma inactivating mutation and deletion; Cyclin proteins overexpression; CD95 reduced expression; protective BCL-2 proteins overexpression; to name but just a few of such molecules. 23974512 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE We investigated 46 paired primary human endometrial carcinomas and normal tissues to assess the frequency of loss of heterozygosity (LOH) in Rb and 20 tumor pairs to detect the frequency of p53 LOH. 12461615 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Using immunohistochemistry, we investigated expression of R132H IDH1, and p53 and retinoblastoma pathways. 22674453 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE The current study on endometrioid carcinoma was undertaken to examine the status of two tumor suppressor genes that frequently have been found to be altered in human malignancies (the p53 gene and the retinoblastoma [Rb] gene) and to examine the status of the candidate metastatic suppressor gene, nm23-H1. 8156496 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Human HPV E6 and E7 proteins inactivate the tumor suppressor genes p53 and retinoblastoma, respectively. 12912945 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE The ability of mda-7 to suppress growth in cancer cells not expressing or containing defects in both the retinoblastoma (RB) and p53 genes indicates a lack of involvement of these critical tumor suppressor elements in mediating mda-7-induced growth inhibition. 8799171 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE These findings suggest that alterations in the p53, p16, and p15 genes are common in human pancreatic cancer cell lines, while p53 or RB mutations are common in hepatoma cell lines. 9058294 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE To our knowledge mutations have not been reported in the p53 gene in retinoblastoma primary tumors. 8735341 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE LOH affecting p53 was observed in 8 of 17 (47%) of heterozygous patients, while LOH of Rb and the mcc/apc locus was observed in 9 of 27 (33%) and 13 of 39 (33%) of heterozygotes, respectively. 1346256 1992
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE We demonstrate that transcriptional activity of E2F correlates with the apoptotic response to Nutlin-3 in various tumor cells and depletion of E2F-1 suppresses Nutlin-3-induced apoptosis in cells possessing high transcriptional activity of E2F, including retinoblastoma cells harboring mutated Rb with wild-type p53. 18521084 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Replication competent serotype-5 adenoviruses attenuated to replicate specifically in retinoblastoma pRb (Ad5-d24) or p53 deficient (Ad5-d55K) cells were tested in vitro for oncolytic properties. 12050554 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE These data seem to suggest that whereas mutant type of p53 and retinoblastoma susceptibility genes may exhibit "oncogenic" function in many human tumors, mutational inactivation of these genes may not be an important feature in the carcinogenic development of human papillomavirus-negative small cell cervical carcinomas. 7934068 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Somatic and constitutional mutation screening of p53 in childhood sarcomas and retinoblastoma was investigated by a multitechnical approach to evaluate its role in the development/progression by somatic mutation events and/or genetic predisposition. 17136003 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Characterization of molecular abnormalities in patients with sarcomas, in particular the up-regulation of the receptor tyrosine kinase and the PI3K-AKT-mTOR pathway, loss or deletions of retinoblastoma (Rb) and p53 gene, increased VEGF expression and angiogenesis, dysregulation of apoptosis through Bcl-2 overexpression, along with oncogene mutations and activations, such as c-KIT in Gastrointestinal stromal tumors (GISTs), makes treatment with novel biological therapies a promising option. 19860642 2009
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE The mammalian cell cycle is controlled by regulators of the G1 to S transition such as tumor suppressor proteins, p53 and retinoblastoma (RB); cyclin D1 and cyclin-dependent kinase 4; and inhibitor of cyclin dependent kinase, p16INK4A. 9302564 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE For example, both the RB gene of retinoblastoma and the p53 gene, which is commonly mutated in breast and colon cancer among others, produce proteins involved in distinct steps of cell cycle control, while the nm23 product prevents metastasis. 7819583 1994
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE These results suggest that LOH on chromosome 17 and mutation of the p53 gene may not be associated with the development of primary RB, but may play a role in the progression of RB. 8827049 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Potential targets for intervention in esophageal neoplasms include mutations involving retinoblastoma (Rb) and p53 tumor-suppressor pathways as well as tyrosine kinase cascades, which are known to promote cell cycle progression. 10631909 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE Two prostate carcinoma cell lines, DU-145 and PC-3, were examined for abnormalities in the retinoblastoma (Rb) and the p53 putative tumor suppressor genes. 1986144 1991
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE CK-19+ specific deletion of p53/Rb verified that carcinomas at the injury site originates from cholangiocytes or liver progenitor cells.These findings suggest that human liver patients with hepatitis B and C viral infection or with mutations for p53 and Rb are at high risk to develop tumors at the surgical intervention site. 27323406 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.200 GeneticVariation disease BEFREE The main targets of their products are tumor-suppressor genes p53 and retinoblastoma, and their function is inhibited by E6 and E7 proteins. 19081541 2008