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: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Clonal heterogeneity and additional abnormalities including TP53 deletion and monosomies of 30678438 2019
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Multivariable survival modeling identified severe anemia (hemoglobin < 8.0 g/dL), NRAS mutation, SF3B1 mutation, TP53 mutation, elevated blast percentage (>10%), abnormal 3q, abnormal 9, and monosomy 7 as having the greatest survival risk. 30635634 2019
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE In addition to known cytogenetic abnormalities, such as monosomy 13, hypodiploidy, and TP53 (17p) deletion, monosomy 16 and loss of the Y chromosome have adverse prognostic implications in patients with MM. 28089441 2017
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE In group 4, CKS1B gain, RB1, or TP53 deletions had no additional impact on overall survival; however, trisomy 3 or 15 conferred a much better overall survival, and monosomy 13 and 14 predicted a worse outcome. 28281554 2017
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Among the ten patients with TP53 mutations who achieved a CR, nine presented with complex karyotypes due to abnormalities involving chromosome 5 and/or chromosome 7, and eight possessed monosomies. 27984642 2017
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Five cases with available modal karyotypes all demonstrated a complex karyotype involving the TP53 gene locus, with three cases (60%) also showing a monosomy 5 or deletion 5q and additional material on chromosome 19q13. 28261852 2017
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10. 26517431 2016
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE In 26/27 cases with TP53 mutation, the second TP53 allele was lost due to monosomy 17. 24619868 2014
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 AlteredExpression group BEFREE Although overall chromosome 17 centromeric imbalances were not correlated with p53 overexpression (p=0.32), both cases with monosomy demonstrated high expression levels. 20414934 2010
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE SH-2 cells showed multiple drug resistance (MDR), which may be related to the p53 gene alteration, including the loss of one p53 allele due to the monosomy 17 and a point mutation of CAG to CAT at codon 576 of exon 5 in another p53 allele resulting in the loss of p53 gene function. 18715689 2008
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE 82 samples from 81 patients were investigated to detect the deletion of TP53, RB1, CDKN2A genes, deletion of 1p36 and 19q13.3 region, amplification of EGFR gene, trisomy of chromosome 7 and monosomy of chromosome 10 in glial cells. 17569001 2007
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE These findings indicate that loss of TP53 results from the absence of nearly the entire chromosome 17 p-arm rather than to monosomy 17 or deletions of TP53. 16737921 2006
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE FISH analysis revealed a significant percentage of cells with interspersed heterozygous deletions of TP53 in all tumors (14/14), ten cases showed also monosomy 17. 16391789 2006
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE The altered expression of PERP highlighted this apoptosis-specific target of p53 as a possible contributor to apoptosis in uveal melanoma with PERP downregulation being particularly relevant to the aggressive (monosomy 3) type of uveal melanoma. 16784742 2006
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE Specifically, unbalanced chromosome 17 monosomy in conjunction with p53 protein overexpression may constitute a valuable biomarker for progressive "field cancerization." 15064627 2004
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE The gain or loss of copy number of chromosome 8 and monosomy 17 show parallel effects with c-myc amplification and p53 deletion, respectively, on the clinicopathological behavior of tumors. 14705768 2003
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Apart from the strong phenotypic impact of addition of acute myeloid leukemia/myelodysplasia-associated translocations and inversions, such as inv(3)(q21q26), t(3;21)(q26;q22), and t(15;17)(q22;q12-21), in CML BC, only a few significant differences between myeloid and lymphoid BC are discerned, with i(17q) and TP53 mutations being more common in myeloid BC and monosomy 7, hypodiploidy, and CDKN2A deletions being more frequent in lymphoid BC. 11919388 2002
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 Biomarker group BEFREE Fluorescent in situ hybridization (FISH) analysis was used to detect monosomy for the 17 centromere and for the p53 locus. 12062821 2002
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE We found inactivating p53 mutations in three (16%) cases, which correlated with a loss of p21(WAF1/Cip1) expression and with a monosomy of chromosome 17 in two cases. 11406642 2001
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE In contrast to recently published FISH results, we only detected heterozygous p53 deletions in eight out of the 74 patients, three of them showing a monosomy 17. 10602435 1999
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE In all cases, translocations led to a monosomy 17p and to a TP53 monoallelic deletion. 10086737 1999
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Chromosome 17 showed monosomy and exon 6 to 8 of p53 gene was not amplified by PCR, implying absence of p53 function. 10536176 1999
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE We analysed genomic DNA and mRNA of the p53 gene in a case of myelodysplastic syndrome (MDS) with monosomy of chromosome 17. 9504641 1998
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE There was no clinical, or haematological difference or difference in survival between ras positive and ras negative patients with acute myeloid leukaemia (AML) in adults or children, but ras mutations carried a poorer prognosis in childhood acute lymphocytic leukaemia and an increased risk of leukaemia in MDS. p53 mutations predominated in lymphoid leukaemia and were several fold more frequent in leukaemia in relapse than in the de novo disease, were associated with loss of the normal p53 allele (monosomy 17) in > 50% of cases and carried a poor prognosis in AML, MDS and chronic lymphatic leukaemia and a 3.8-fold increase risk of death in T cell acute lymphocytic leukaemia. 9279367 1997
CUI: C0026499
Disease: Monosomy
Monosomy
0.100 GeneticVariation group BEFREE Our data suggest that mutations of the p53 gene occur in a minority of hemopoietic malignancies characterized by monosomy for the short arm of chromosome 17. 8152298 1994