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 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
0.700 CausalMutation CLINVAR Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites. 11139324 2001
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
0.700 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. 26822237 2016
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 CausalMutation CLINVAR
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
0.700 CausalMutation CLINVAR
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
0.700 CausalMutation CLINVAR
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
0.700 CausalMutation CLINVAR
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
0.700 CausalMutation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618 2009
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
0.700 CausalMutation CLINVAR The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. 23161690 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors. 27683180 2017
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.700 CausalMutation CLINVAR
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 GeneticVariation CLINVAR
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 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385 2007
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 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 Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. 22534715 2012
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 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 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 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.720 GeneticVariation BEFREE This was associated with a twofold higher T-lymphoma proliferation in R248Q/- mice compared with G245S/- and null mice. 23538418 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.720 GeneticVariation BEFREE Hot Spot Mutation in TP53 (R248Q) Causes Oncogenic Gain-of-Function Phenotypes in a Breast Cancer Cell Line Derived from an African American patient. 26703669 2015