|
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
|
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 |
|
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 |
|
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
|
BEFREE |
Metabolic stress controls mutant p53 R248Q stability in acute myeloid leukemia cells.
|
30948782 |
2019 |
|
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 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
The results show that: (i) the p53 mutants H115N and S116M are thermally more stable than wild-type p53; (ii) H115N but not S116M is capable of rescuing the DNA binding of one of the most frequent p53 mutants in cancer, R248Q, as shown by binding of R248Q/H115N to gadd45 (the promoter of a gene involved in cell-cycle arrest); (iii) the double mutant R248Q/H115N is more stable than wild-type p53; (iv) the effect of H115N as a second-site suppressor to restore DNA-binding activity is specific to R248Q, but not to R248W; (v) molecular-dynamics simulations indicate that R248Q/H115N has a conformation similar to wild-type p53, which is distinct from that of R248Q.
|
20113312 |
2010 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Diverse and cancer type‑specific roles of the p53 R248Q gain‑of‑function mutation in cancer migration and invasiveness.
|
30968154 |
2019 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
To evaluate the role of aggregation in cancer, we asked whether wild-type (WT) p53 and the hot-spot mutant R248Q could aggregate as amyloids under physiological conditions and whether the mutant could seed aggregation of the wild-type form.
|
22715097 |
2012 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
In 1 case, the same mutation (R248Q) was detected in both cancer and stromal tissues, and p53 protein expression was detected in both the cancer cells and the cancer stroma.
|
23202778 |
2013 |
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
Diverse and cancer type‑specific roles of the p53 R248Q gain‑of‑function mutation in cancer migration and invasiveness.
|
30968154 |
2019 |
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
The results show that: (i) the p53 mutants H115N and S116M are thermally more stable than wild-type p53; (ii) H115N but not S116M is capable of rescuing the DNA binding of one of the most frequent p53 mutants in cancer, R248Q, as shown by binding of R248Q/H115N to gadd45 (the promoter of a gene involved in cell-cycle arrest); (iii) the double mutant R248Q/H115N is more stable than wild-type p53; (iv) the effect of H115N as a second-site suppressor to restore DNA-binding activity is specific to R248Q, but not to R248W; (v) molecular-dynamics simulations indicate that R248Q/H115N has a conformation similar to wild-type p53, which is distinct from that of R248Q.
|
20113312 |
2010 |
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
To evaluate the role of aggregation in cancer, we asked whether wild-type (WT) p53 and the hot-spot mutant R248Q could aggregate as amyloids under physiological conditions and whether the mutant could seed aggregation of the wild-type form.
|
22715097 |
2012 |
|
Primary malignant neoplasm
|
|
0.040 |
GeneticVariation
|
BEFREE |
In 1 case, the same mutation (R248Q) was detected in both cancer and stromal tissues, and p53 protein expression was detected in both the cancer cells and the cancer stroma.
|
23202778 |
2013 |
|
Malignant neoplasm of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |