rs11540652, TP53

N. diseases: 57
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 23538418 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. 21305319 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691 2010
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385 2007
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 15381368 2004
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456 1997
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414 1995
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. 1359493 1992
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143 1992
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR The p53 tumour suppressor gene. 2046748 1991
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 GeneticVariation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation. 31645443 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2. 30107178 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE TP53 mutation analysis revealed an R248L mutation in both epithelial and mesenchymal components of 1 tumor.No TP53 rearrangements were identified. 25704628 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior. 26260781 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE We conclude that in the AA-derived TNBC HCC70 cells mtp53 R248Q expression results in a causative tumor associated phenotype. 26703669 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Here we use a novel mutp53 mouse model expressing an inactivatable R248Q hotspot mutation (floxQ) to show that tumours depend on sustained mutp53 expression. 26009011 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation CLINVAR Mutant p53 in cancer: new functions and therapeutic opportunities. 24651012 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. 22534715 2012