TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Isochromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 GeneticVariation phenotype BEFREE Various chromosomal abnormalities (including unbalanced translocations, deletions, ring chromosomes and isochromosomes) result in the loss of 17p and one copy of the TP53 gene. 29194741 2018
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 GeneticVariation phenotype BEFREE Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes. 28888994 2017
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 Biomarker phenotype BEFREE The authors conclude that myeloid neoplasms with isolated isochromosome 17q represent a distinct clinicopathologic entity with myelodysplastic and myeloproliferative features, high risk of leukemic transformation, and wild-type TP53. 22038701 2012
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 Biomarker phenotype BEFREE Clonal cytogenetic aberrations were found in 5 of 6 cases, with 2 clones bearing isochromosome 17q that resulted in loss of p53 and 2 other clones with 7q abnormalities. 17638670 2007
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 Biomarker phenotype BEFREE Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL. 16737921 2006
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 Biomarker phenotype BEFREE Because p53 abnormalities correlate with progressive and refractory disease in cancer and isochromosome 17q has been described in SLVL, a low-grade lymphoma that behaves aggressively in a minority of patients, this study investigated p53 changes by molecular and immunophenotypic methods in samples from 59 patients. 11369650 2001
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 AlteredExpression phenotype BEFREE The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. 10983696 2000
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 GeneticVariation phenotype BEFREE Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. 10381517 1999
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 GeneticVariation phenotype BEFREE The formation of this isochromosome may help inactivate a tumor-suppressor gene located distal to the TP53 locus on 17p. 7947009 1994
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 GeneticVariation phenotype BEFREE Analysis of the p53 gene in patients with isochromosome 17q and Ph1-positive or -negative myeloid leukemia. 8505851 1993
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.100 Biomarker phenotype BEFREE The frequent cytogenetic abnormality--isochromosome 17q [i(17)q]--observed in medulloblastomas (MB) may result in altered expression of the oncosuppressor gene p53 that is located on 17p. p53 expression was therefore evaluated in five MBs and in one MB cell line derived from one of these tumors. 1342953 1992