|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
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
|
|
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
|
|
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
|
|
0.770 |
GeneticVariation
|
CLINVAR |
Mutant p53 in cancer: new functions and therapeutic opportunities.
|
24651012 |
2014 |
|
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
|
|
0.770 |
GeneticVariation
|
BEFREE |
Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior.
|
26260781 |
2015 |
|
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
|
|
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
|
|
0.770 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
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
|
|
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 |
|
Lymphoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of breast
|
|
0.720 |
GeneticVariation
|
BEFREE |
The R248Q mutant co-localized with amyloid-like species in a breast cancer sample, which further supported its prion-like effect.
|
22715097 |
2012 |
|
Lymphoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
We previously showed that the HSP90 inhibitor ganetespib potently suppresses T-lymphoma initiation and progression and extends overall survival (OS) in hotspot knockin mice expressing the p53 gain-of-function mutants R175H and R248Q (mutp53) by 30-59%.
|
28300840 |
2017 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review.
|
24641375 |
2014 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
BEFREE |
Metabolic stress controls mutant p53 R248Q stability in acute myeloid leukemia cells.
|
30948782 |
2019 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients.
|
24487413 |
2014 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice.
|
24381225 |
2014 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Colorectal Carcinoma
|
|
0.710 |
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 |