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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE We selected a group of 16 patients with acute lymphoblastic leukemia (ALL) and Burkitt's lymphoma (BL) in order to investigate the presence of p53 mutations. 9407719 1998
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The other nonhereditary p53 mutation was a transition at codon 248 (CGG to CAG, arginine to glutamine) found in the lymphoblasts of a patient with a preleukemic syndrome and acute lymphoblastic leukemia (ALL) whose brother is a long-term survivor of ALL. 1644930 1992
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Marked overexpression was found in two cases of T-cell prolymphocytic leukemias and in four B-cell lineage acute lymphoblastic leukemia including one case with the t(8;14) and another case with a p53 mutation. 12969807 2003
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Low-level DHFR gene amplification may be an important cause of MTX resistance in ALL and strengthens the concept that mutations in the p53 gene may lead to gene amplification as a consequence of defective cell cycle control. 7605998 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Mutations were detected in samples from two patients with ALL at relapse; these were not detected in samples at initial diagnosis from the same patients, suggesting that p53 mutations may be associated with progression to a more malignant phenotype. 8219205 1993
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE By SSCP analysis and DNA sequencing, we detected p53 mutations (mt) in eight out of 25 ALL cell lines (exon-7, codon 248 n=6; exon-8, codon 273, n=2). 9823951 1998
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE We demonstrate a rare case of TMZ-related ALL in a child with glioma possibly associated with a germline TP53 mutation. 20658636 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE A total of 288 acute leukemia cases comprising 147 acute lymphocytic leukemia (ALL) and 141 acute myeloid leukemia (AML), as well as 245 controls were recruited for analysis of the TP53 72 polymorphism using PCR-RFLP method. 22502699 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The mutations of the p53 gene were found in 2 of 20 t(1;19)-ALL cases at diagnosis (10%), all of 4 cases at relapse (100%), and 4 of the 5 cell lines (80%). 7727782 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones. Mutations in brief no. 219. Online. 10094561 1999
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Taken together, the 2 cell lines had features of Ph1-positive ALL: (i) hematopoietic progenitor cells with pre-B-cell phenotype and, (ii) activation of e1-a2 type bcr/abl oncogene without alterations of p53 gene. 8428799 1993
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The results showed ALL-1 gene rearrangements in 15/22 (68%) cases, p53 gene mutations in 5/22 (26%), and a homozygous deletion of p16 in a single T-ALL case. p53 and p16 alterations were all found in the group of patients with ALL-1 gene rearrangements. p53 mutations were more often associated with a myeloid phenotype (3/5). 9029018 1997
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease 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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The authors here present a family with pR337P mutation in TP53 gene who had a child with acute lymphoblastic leukemia (ALL) and associated adrenocortical carcinoma as a case 1 and his cousin with brain tumor as a case 2. 20426520 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Thus, we aimed at identifying the mutation frequency of TP53, its association with cytogenetic subgroups, and its impact on survival in a large cohort of 625 patients with ALL. 24829203 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Therefore, TP53 alterations should be considered in the diagnostic work-up to identify high risk ALL patients in need of intensive treatment strategies or eligible for new innovative targeted therapies. 28679301 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The frequencies of both allelic variants were higher in ALL patients than in the controls and indicated a positive association: OR = 2.44; 95 % CI 1.05-5.64 for CXCL12 and OR = 2.20; 95 % CI 1.03-4.70 for TP53. 23653000 2013
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases. 7707106 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The results suggest that p53 mutation is frequently involved during ALL relapse and is closely linked with cytogenetic instability. 9615800 1998
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The loss of Bax protein expression was not a consequence of Bax frameshift mutations of the G8 tract and could not be attributed to mutations of the p53 coding sequence (exons 5 to 8) which were detected to a similar extent in de novo ALL samples and at relapse. 10995007 2000
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Frequency and clinical relevance of DNA microsatellite alterations of the CDKN2A/B, ATM and p53 gene loci: a comparison between pediatric precursor T-cell lymphoblastic lymphoma and T-cell lymphoblastic leukemia. 19586936 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Using these techniques, we have found promoter methylation in 32% of the cases, missense mutations in 8.8%, and deletion of one allele in 7.5% of the samples, with TP53 being altered in 40% of the ALL samples studied in this series. 14639659 2003
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Mutations in p53 were infrequent and were present in only three of 47 ALL cases (6%) analyzed; two of these were mixed-lineage leukemias. 7845017 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Hyper-CVAD-based regimens appear to negate the poor prognostic impact of TP53 mutations in patients with adult B-cell immunophenotype ALL.Cancer 2017;123:3717-24.© 2017 American Cancer Society. 28608976 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Backtracking to initial ALL in 23 matched samples revealed that 54% of all TP53 alterations were gained at relapse. 21747090 2011