Variant ID: 17-7577539-G-A

NM_000546.5(TP53):c.742C>T;(p.Arg248Trp)

This variant was identified in 639 publications




Publications:


Hotspot mutant p53-R273H inhibits KLF6 expression to promote cell migration and tumor metastasis.

Cell Death & Disease
S Sun, H Chen, L Sun, M Wang, X Wu, ZJ Xiao
Publication Date: 2020-07-30

Variant appearance in text: p53: R248W
PMID: 32733026
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Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Diagnostics (Basel, Switzerland)
A Niwinska, A Bałabas, M Kulecka, A Kluska, M Piątkowska, A Paziewska, K Pyśniak, W Olszewski, M Mikula, J Ostrowski
Publication Date: 2020-07-28

Variant appearance in text: TP53: Arg248Trp
PMID: 32731384
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TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.

Cancers
F Graziano, NW Fischer, I Bagaloni, M Di Bartolomeo, S Lonardi, B Vincenzi, G Perrone, L Fornaro, E Ongaro, G Aprile, R Bisonni, M Prisciandaro, D Malkin, J Gariépy, M Fassan, F Loupakis, D Sarti, M Del Prete, V Catalano, P Alessandroni, M Magnani, A Ruzzo
Publication Date: 2020-07-24

Variant appearance in text: TP53: R248W
PMID: 32722340
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Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.

Therapeutic Advances In Medical Oncology
H Taghizadeh, L Müllauer, RM Mader, M Schindl, GW Prager
Publication Date: 2020

Variant appearance in text: TP53: Arg248Trp
PMID: 32699558
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Intratumor heterogeneity of prognostic DNA-based molecular markers in adrenocortical carcinoma.

Endocrine Connections
A Jouinot, J Lippert, M Fassnacht, B De La Villeon, A Septier, M Neou, K Perlemoine, S Appenzeller, M Sibony, S Gaujoux, B Dousset, R Libe, L Groussin, CL Ronchi, G Assie, J Bertherat
Publication Date: 2020-07-01

Variant appearance in text: TP53: R248W
PMID: 32698135
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Detection of somatic TP53 mutation in surgically resected small-cell lung cancer by targeted exome sequencing: association with longer relapse-free survival.

Heliyon
H Yokouchi, H Nishihara, T Harada, S Yamazaki, H Kikuchi, S Oizumi, H Uramoto, F Tanaka, M Harada, K Akie, F Sugaya, Y Fujita, K Takamura, T Kojima, M Higuchi, O Honjo, Y Minami, N Watanabe, M Nishimura, H Suzuki, H Dosaka-Akita, H Isobe
Publication Date: 2020-07

Variant appearance in text: TP53: R248W
PMID: 32685741
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Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.

Acta Neuropathologica Communications
MM Georgescu, MZ Islam, Y Li, ML Circu, J Traylor, CM Notarianni, CN Kline, DK Burns
Publication Date: 2020-07-17

Variant appearance in text: TP53: R248W
PMID: 32680567
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Immunohistochemical detection of p53 and pp53 Ser392 in canine hemangiomas and hemangiosarcomas located in the skin.

Bmc Veterinary Research
MJ García-Iglesias, JL Cuevas-Higuera, A Bastida-Sáenz, MG de Garnica-García, L Polledo, P Perero, J González-Fernández, B Fernández-Martínez, C Pérez-Martínez
Publication Date: 2020-07-13

Variant appearance in text: TP53: R248W
PMID: 32660487
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The Janus Face of p53-Targeting Ubiquitin Ligases.

Cells
Q Hao, Y Chen, X Zhou
Publication Date: 2020-07-09

Variant appearance in text: p53: R248W
PMID: 32660118
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Optimization of a WGA-Free Molecular Tagging-Based NGS Protocol for CTCs Mutational Profiling.

International Journal Of Molecular Sciences
G De Luca, B Cardinali, L Del Mastro, S Lastraioli, F Carli, M Ferrarini, GA Calin, A Garuti, C Mazzitelli, S Zupo, M Dono
Publication Date: 2020-06-19

Variant appearance in text: TP53: Arg248Trp
PMID: 32575430
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Impact of Cysteine Residues on MHC Binding Predictions and Recognition by Tumor-Reactive T Cells.

Journal Of Immunology (Baltimore, Md. : 1950)
A Sachs, E Moore, Z Kosaloglu-Yalcin, B Peters, J Sidney, SA Rosenberg, PF Robbins, A Sette
Publication Date: 2020-06-22

Variant appearance in text: TP53: R248W
PMID: 32571843
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A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.

Molecular Medicine (Cambridge, Mass.)
G Saha, R Singh, A Mandal, S Das, E Chattopadhyay, P Panja, P Roy, N DeSarkar, S Gulati, S Ghatak, S Ghosh, S Banerjee, B Roy, S Ghosh, D Chaudhuri, N Arora, NK Biswas, N Sikdar
Publication Date: 2020-06-17

Variant appearance in text: TP53: R248W
PMID: 32552660
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Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics
V D'Afonseca, AD Arencibia, A Echeverría-Vega, L Cerpa, JP Cayún, NM Varela, M Salazar, LA Quiñones
Publication Date: 2020

Variant appearance in text: p53: R248W
PMID: 32546937
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Upregulation of mesothelial genes in ovarian carcinoma cells is associated with an unfavorable clinical outcome and the promotion of cancer cell adhesion.

Molecular Oncology
K Ojasalu, C Brehm, K Hartung, M Nischak, F Finkernagel, P Rexin, A Nist, E Pavlakis, T Stiewe, JM Jansen, U Wagner, S Gattenlöhner, A Bräuninger, S Müller-Brüsselbach, S Reinartz, R Müller
Publication Date: 2020-06-13

Variant appearance in text: TP53: R248W
PMID: 32533757
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Mutant p53 as an Antigen in Cancer Immunotherapy.

International Journal Of Molecular Sciences
N Sobhani, A D'Angelo, X Wang, KH Young, D Generali, Y Li
Publication Date: 2020-06-08

Variant appearance in text: p53: 742C>T
PMID: 32521648
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Structural basis for oligoclonal T cell recognition of a shared p53 cancer neoantigen.

Nature Communications
D Wu, DT Gallagher, R Gowthaman, BG Pierce, RA Mariuzza
Publication Date: 2020-06-09

Variant appearance in text: p53: R248W
PMID: 32518267
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Ovarian BDNF promotes survival, migration, and attachment of tumor precursors originated from p53 mutant fallopian tube epithelial cells.

Oncogenesis
M Kang, KY Chong, TMP Hartwich, F Bi, AK Witham, D Patrick, MJ Morrisson, SL Cady, AP Cerchia, D Kelk, Y Liu, J Nucci, O Madarikan, D Ueno, BM Shuch, Y Yang-Hartwich
Publication Date: 2020-05-29

Variant appearance in text: p53: R248W
PMID: 32471985
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P53: A Guardian of Immunity Becomes Its Saboteur through Mutation.

International Journal Of Molecular Sciences
AD Agupitan, P Neeson, S Williams, J Howitt, S Haupt, Y Haupt
Publication Date: 2020-05-13

Variant appearance in text: p53: R248W
PMID: 32414156
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Impact of TP53 mutations in breast cancer: Clinicopathological features and prognosisImpact of TP53 mutations in breast CA.

Thoracic Cancer
X Li, X Chen, L Wen, Y Wang, B Chen, Y Xue, L Guo, N Liao
Publication Date: 2020-05-15

Variant appearance in text: TP53: R248W
PMID: 32412177
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Characterization of GRK5 as a novel regulator of rhabdomyosarcoma tumor cell growth and self-renewal.

Oncotarget
T Pham, K Robinson, T Vleeshouwer-Neumann, JE Annis, EY Chen
Publication Date: 2020-04-21

Variant appearance in text: TP53: R248W
PMID: 32363002
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DNA methylation of chronic lymphocytic leukemia with differential response to chemotherapy.

Scientific Data
DY Yosifov, J Bloehdorn, H Döhner, P Lichter, S Stilgenbauer, D Mertens
Publication Date: 2020-05-01

Variant appearance in text: TP53: 742C>T
PMID: 32358561
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Targeting codon 158 p53-mutant cancers via the induction of p53 acetylation.

Nature Communications
LR Kong, RW Ong, TZ Tan, NAB Mohamed Salleh, M Thangavelu, JV Chan, LYJ Koh, G Periyasamy, JA Lau, TBU Le, L Wang, M Lee, S Kannan, CS Verma, CM Lim, WJ Chng, DP Lane, A Venkitaraman, HT Hung, CF Cheok, BC Goh
Publication Date: 2020-04-29

Variant appearance in text: p53: R248W
PMID: 32350249
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Statin as anti-cancer therapy in autochthonous T-lymphomas expressing stabilized gain-of-function mutant p53 proteins.

Cell Death & Disease
K Tutuska, L Parrilla-Monge, E Di Cesare, A Nemajerova, UM Moll
Publication Date: 2020-04-24

Variant appearance in text: p53: R248W
PMID: 32332697
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Recent Synthetic Approaches towards Small Molecule Reactivators of p53.

Biomolecules
JL Silva, CGS Lima, LP Rangel, GDS Ferretti, FP Pauli, RCB Ribeiro, TB da Silva, FC da Silva, VF Ferreira
Publication Date: 2020-04-20

Variant appearance in text: p53: R248W
PMID: 32326087
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The genomic landscape of undifferentiated embryonal sarcoma of the liver is typified by C19MC structural rearrangement and overexpression combined with TP53 mutation or loss.

Plos Genetics
BA Setty, GG Jinesh, M Arnold, F Pettersson, CH Cheng, L Cen, SJ Yoder, JK Teer, ER Flores, DR Reed, AS Brohl
Publication Date: 2020-04-20

Variant appearance in text: TP53: R248W
PMID: 32310940
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Functional and genomic characterization of three novel cell lines derived from a metastatic gallbladder cancer tumor.

Biological Research
P García, C Bizama, L Rosa, JA Espinoza, H Weber, J Cerda-Infante, M Sánchez, VP Montecinos, J Lorenzo-Bermejo, F Boekstegers, M Dávila-López, F Alfaro, C Leiva-Acevedo, Z Parra, D Romero, S Kato, P Leal, M Lagos, JC Roa
Publication Date: 2020-04-15

Variant appearance in text: N/A
PMID: 32293552
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Establishment and characterization of patient-derived xenografts as paraclinical models for head and neck cancer.

Bmc Cancer
HN Kang, JH Kim, AY Park, JW Choi, SM Lim, J Kim, EJ Shin, MH Hong, KH Pyo, MR Yun, DH Kim, H Lee, SO Yoon, DH Kim, YM Park, HK Byeon, I Jung, S Paik, YW Koh, BC Cho, HR Kim
Publication Date: 2020-04-15

Variant appearance in text: TP53: R248W
PMID: 32293356
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Genomic Profiling of Circulating Tumor DNA Predicts Outcome and Demonstrates Tumor Evolution in ALK-Positive Non-Small Cell Lung Cancer Patients.

Cancers
AT Madsen, A Winther-Larsen, T McCulloch, P Meldgaard, BS Sorensen
Publication Date: 2020-04-11

Variant appearance in text: TP53: R248W
PMID: 32290439
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Molecular subtypes in canine hemangiosarcoma reveal similarities with human angiosarcoma.

Plos One
G Wang, M Wu, AC Durham, E Radaelli, NJ Mason, X Xu, DB Roth
Publication Date: 2020

Variant appearance in text: TP53: R248W
PMID: 32210430
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Advanced Lung Adenocarcinoma Patient with ERBB2 Amplification Identified by Comprehensive Genomic Profiling Benefits from Trastuzumab.

Case Reports In Oncological Medicine
CW Tao, MY Chen, CM Tseng, N Lapke, SJ Chen, KT Tan
Publication Date: 2020

Variant appearance in text: TP53: R248W
PMID: 32190395
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A Comparative Analysis of Tumors and Plasma Circulating Tumor DNA in 145 Advanced Cancer Patients Annotated by 3 Core Cellular Processes.

Cancers
K Larson, R Kannaiyan, R Pandey, Y Chen, HM Babiker, D Mahadevan
Publication Date: 2020-03-16

Variant appearance in text: TP53: R248W
PMID: 32188081
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Concordance between TP53 alterations in blood and tissue: impact of time interval, biopsy site, cancer type and circulating tumor DNA burden.

Molecular Oncology
CC Bieg-Bourne, R Okamura, R Kurzrock
Publication Date: 2020-03-18

Variant appearance in text: TP53: R248W
PMID: 32187847
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Neoantigens in Hematologic Malignancies.

Frontiers In Immunology
MA Biernacki, M Bleakley
Publication Date: 2020

Variant appearance in text: TP53: R248W
PMID: 32117272
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Mutant p53-Associated Molecular Mechanisms of ROS Regulation in Cancer Cells.

Biomolecules
M Cordani, G Butera, R Pacchiana, F Masetto, N Mullappilly, C Riganti, M Donadelli
Publication Date: 2020-02-26

Variant appearance in text: p53: R248W
PMID: 32111081
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Phase I studies of vorinostat with ixazomib or pazopanib imply a role of antiangiogenesis-based therapy for TP53 mutant malignancies.

Scientific Reports
Y Wang, F Janku, S Piha-Paul, K Hess, R Broaddus, L Liu, N Shi, M Overman, S Kopetz, V Subbiah, A Naing, D Hong, AM Tsimberidou, D Karp, J Yao, S Fu
Publication Date: 2020-02-20

Variant appearance in text: TP53: R248W
PMID: 32080210
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Gain-of-Function Mutations in p53 in Cancer Invasiveness and Metastasis.

International Journal Of Molecular Sciences
KA Roszkowska, S Gizinski, M Sady, Z Gajewski, MB Olszewski
Publication Date: 2020-02-17

Variant appearance in text: p53: R248W
PMID: 32079237
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p53's Extended Reach: The Mutant p53 Secretome.

Biomolecules
E Pavlakis, T Stiewe
Publication Date: 2020-02-15

Variant appearance in text: p53: R248W
PMID: 32075247
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Follow the Mutations: Toward Class-Specific, Small-Molecule Reactivation of p53.

Biomolecules
SN Loh
Publication Date: 2020-02-14

Variant appearance in text: p53: R248W
PMID: 32075132
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Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology
MR Van Bockstal, MC Agahozo, R van Marion, PN Atmodimedjo, HFBM Sleddens, WNM Dinjens, LL Visser, EH Lips, J Wesseling, CHM van Deurzen
Publication Date: 2020-02-14

Variant appearance in text: TP53: 742C>T; R248W
PMID: 32058674
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Identifying multi-hit carcinogenic gene combinations: Scaling up a weighted set cover algorithm using compressed binary matrix representation on a GPU.

Scientific Reports
Q Al Hajri, S Dash, WC Feng, HR Garner, R Anandakrishnan
Publication Date: 2020-02-06

Variant appearance in text: TP53: R248W
PMID: 32029803
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Genomic context and TP53 allele frequency define clinical outcomes in TP53-mutated myelodysplastic syndromes.

Blood Advances
G Montalban-Bravo, R Kanagal-Shamanna, CB Benton, CA Class, KS Chien, K Sasaki, K Naqvi, Y Alvarado, TM Kadia, F Ravandi, N Daver, K Takahashi, E Jabbour, G Borthakur, N Pemmaraju, M Konopleva, KA Soltysiak, SR Pierce, CE Bueso-Ramos, KP Patel, H Kantarjian, G Garcia-Manero
Publication Date: 2020-02-11

Variant appearance in text: TP53: R248W
PMID: 32027746
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The PI3K/mTOR dual inhibitor NVP-BEZ235 stimulates mutant p53 degradation to exhibit anti-tumor effect on triple-negative breast cancer cells.

Febs Open Bio
J Cai, J Xia, J Zou, Q Wang, Q Ma, R Sun, H Liao, L Xu, D Wang, X Guo
Publication Date: 2020-02-06

Variant appearance in text: p53: R248W
PMID: 32027103
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Antigen Experienced T Cells from Peripheral Blood Recognize p53 Neoantigens.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
P Malekzadeh, R Yossef, G Cafri, BC Paria, FJ Lowery, M Jafferji, ML Good, A Sachs, AR Copeland, SP Kim, S Kivitz, MR Parkhurst, PF Robbins, S Ray, L Xi, M Raffeld, Z Yu, NP Restifo, RPT Somerville, SA Rosenberg, DC Deniger
Publication Date: 2020-01-29

Variant appearance in text: p53: R248W
PMID: 31996390
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Prognosis, Biology, and Targeting of TP53 Dysregulation in Multiple Myeloma.

Cells
E Flynt, K Bisht, V Sridharan, M Ortiz, F Towfic, A Thakurta
Publication Date: 2020-01-24

Variant appearance in text: TP53: R248W
PMID: 31991614
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Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.

Jci Insight
SC Heidemann, B Bursic, S Zandi, H Li, S Abelson, RJ Klaassen, S Abish, MS Rayar, VR Breakey, H Moshiri, S Dhanraj, R de Borja, A Shlien, JE Dick, Y Dror
Publication Date: 2020-01-28

Variant appearance in text: TP53: 742C>T; Arg248Trp
PMID: 31990679
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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications
A Leal, NCT van Grieken, DN Palsgrove, J Phallen, JE Medina, C Hruban, MAM Broeckaert, V Anagnostou, V Adleff, DC Bruhm, JV Canzoniero, J Fiksel, M Nordsmark, FARM Warmerdam, HMW Verheul, DJ van Spronsen, LV Beerepoot, MM Geenen, JEA Portielje, EPM Jansen, J van Sandick, E Meershoek-Klein Kranenbarg, HWM van Laarhoven, DL van der Peet, CJH van de Velde, M Verheij, R Fijneman, RB Scharpf, GA Meijer, A Cats, VE Velculescu
Publication Date: 2020-01-27

Variant appearance in text: TP53: R248W
PMID: 31988276
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TP53/miR-34a-associated signaling targets SERPINE1 expression in human pancreatic cancer.

Aging
SM Akula, PP Ruvolo, JA McCubrey
Publication Date: 2020-01-27

Variant appearance in text: TP53: R248W
PMID: 31986125
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Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.

Scientific Reports
MV Nemtsova, AI Kalinkin, EB Kuznetsova, IV Bure, EA Alekseeva, II Bykov, TV Khorobrykh, DS Mikhaylenko, AS Tanas, SI Kutsev, DV Zaletaev, VV Strelnikov
Publication Date: 2020-01-16

Variant appearance in text: TP53: R248W; rs121912651
PMID: 31949278
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Metabolic Pathways Enhancement Confers Poor Prognosis in p53 Exon Mutant Hepatocellular Carcinoma.

Cancer Informatics
PM Chen, JR Li, CC Liu, FY Tang, EI Chiang
Publication Date: 2020

Variant appearance in text: p53: R248W
PMID: 31933519
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Synchronous tumors of the pancreas and the gallbladder: a case report with targeted NGS evaluation.

Annals Of Translational Medicine
A Sivade, C Sempoux, I Voutsadakis, C Brunel, N Halkic, S Godat, R Duran, A Digklia
Publication Date: 2019-11

Variant appearance in text: TP53: 742C>T; R248W
PMID: 31930097
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Therapeutic effects of statins against lung adenocarcinoma via p53 mutant-mediated apoptosis.

Scientific Reports
CW Chou, CH Lin, TH Hsiao, CC Lo, CY Hsieh, CC Huang, YP Sher
Publication Date: 2019-12-31

Variant appearance in text: p53: R248W
PMID: 31892709
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High-throughput prediction of MHC class I and class II neoantigens with MHCnuggets.

Cancer Immunology Research
XM Shao, R Bhattacharya, J Huang, IKA Sivakumar, C Tokheim, L Zheng, D Hirsch, B Kaminow, A Omdahl, M Bonsack, AB Riemer, VE Velculescu, V Anagnostou, KA Pagel, R Karchin
Publication Date: 2019-12-23

Variant appearance in text: TP53: R248W
PMID: 31871119
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How the Other Half Lives: What p53 Does When It Is Not Being a Transcription Factor.

International Journal Of Molecular Sciences
T Ho, BX Tan, D Lane
Publication Date: 2019-12-18

Variant appearance in text: p53: R248W
PMID: 31861395
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Characterization of p53 Family Homologs in Evolutionary Remote Branches of Holozoa.

International Journal Of Molecular Sciences
M Bartas, V Brázda, J Červeň, P Pečinka
Publication Date: 2019-12-18

Variant appearance in text: p53: R248W
PMID: 31861340
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Mutant p53 drives clonal hematopoiesis through modulating epigenetic pathway.

Nature Communications
S Chen, Q Wang, H Yu, ML Capitano, S Vemula, SC Nabinger, R Gao, C Yao, M Kobayashi, Z Geng, A Fahey, D Henley, SZ Liu, S Barajas, W Cai, ER Wolf, B Ramdas, Z Cai, H Gao, N Luo, Y Sun, TN Wong, DC Link, Y Liu, HS Boswell, LD Mayo, G Huang, R Kapur, MC Yoder, HE Broxmeyer, Z Gao, Y Liu
Publication Date: 2019-12-11

Variant appearance in text: p53: R248W
PMID: 31827082
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Targeting the Oncogenic p53 Mutants in Colorectal Cancer and Other Solid Tumors.

International Journal Of Molecular Sciences
H Li, J Zhang, JHM Tong, AWH Chan, J Yu, W Kang, KF To
Publication Date: 2019-11-28

Variant appearance in text: p53: R248W
PMID: 31795192
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Blood-Based Next-Generation Sequencing Analysis of Appendiceal Cancers.

The Oncologist
WL Shaib, K Zakka, C Staley, A Roberts, M Akce, C Wu, OB Alese, BF El-Rayes
Publication Date: 2019-11-29

Variant appearance in text: TP53: R248W
PMID: 31784493
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Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer.

Cancer Research
G Xiao, D Lundine, GK Annor, J Canar, V Ellison, A Polotskaia, PL Donabedian, T Reiner, GF Khramtsova, OI Olopade, A Mazo, J Bargonetti
Publication Date: 2019-11-27

Variant appearance in text: p53: R248W
PMID: 31776133
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Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance.

World Journal Of Surgical Oncology
N Batta, M Pandey
Publication Date: 2019-11-27

Variant appearance in text: TP53: 742C>T
PMID: 31775759
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The Rich World of p53 DNA Binding Targets: The Role of DNA Structure.

International Journal Of Molecular Sciences
V Brázda, M Fojta
Publication Date: 2019-11-09

Variant appearance in text: p53: R248W
PMID: 31717504
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Mutant p53 antagonizes p63/p73-mediated tumor suppression via Notch1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
J Zhang, W Sun, X Kong, Y Zhang, HJ Yang, C Ren, Y Jiang, M Chen, X Chen
Publication Date: 2019-11-26

Variant appearance in text: p53: R248W
PMID: 31712410
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Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association
T Masoodi, AK Siraj, S Siraj, S Azam, Z Qadri, WN Albalawy, SK Parvathareddy, SS Al-Sobhi, F Al-Dayel, FS Alkuraya, KS Al-Kuraya
Publication Date: 2019-12-04

Variant appearance in text: TP53: R248W
PMID: 31668133
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Gain of function in somatic TP53 mutations is associated with immune-rich breast tumors and changes in tumor-associated macrophages.

Molecular Genetics & Genomic Medicine
M Behring, AI Vazquez, X Cui, MR Irvin, AI Ojesina, S Agarwal, U Manne, S Shrestha
Publication Date: 2019-12

Variant appearance in text: TP53: R248W
PMID: 31637877
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Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.

Cold Spring Harbor Molecular Case Studies
C Yang, F Austin, H Richard, M Idowu, V Williamson, F Sabato, A Ferreira-Gonzalez, SA Turner
Publication Date: 2019-10

Variant appearance in text: TP53: 742C>T; Arg248Trp
PMID: 31604779
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RNA-binding motif protein 10 induces apoptosis and suppresses proliferation by activating p53.

Oncogene
JH Jung, H Lee, B Cao, P Liao, SX Zeng, H Lu
Publication Date: 2019-10-07

Variant appearance in text: p53: R248W
PMID: 31591476
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Unclassifiable Isolated Monoclonal Lymphocytosis: Comprehensive Description of a Retrospective Cohort.

Cancers
M Degaud, L Baseggio, B Grange, D Manzoni, S Huet, E Callet-Bauchu, A Traverse-Glehen, F Davi, H Ghesquières, G Salles, P Sujobert
Publication Date: 2019-10-04

Variant appearance in text: TP53: 742C>T; R248W
PMID: 31590326
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Ubiquitin ligase TRIM71 suppresses ovarian tumorigenesis by degrading mutant p53.

Cell Death & Disease
Y Chen, Q Hao, J Wang, J Li, C Huang, Y Zhang, X Wu, H Lu, X Zhou
Publication Date: 2019-09-30

Variant appearance in text: p53: R248W
PMID: 31570706
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Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
JK Rotow, P Gui, W Wu, VM Raymond, RB Lanman, FJ Kaye, N Peled, F Fece de la Cruz, B Nadres, RB Corcoran, I Yeh, BC Bastian, P Starostik, K Newsom, VR Olivas, AM Wolff, JS Fraser, EA Collisson, CE McCoach, DR Camidge, J Pacheco, L Bazhenova, T Li, TG Bivona, CM Blakely
Publication Date: 2019-09-23

Variant appearance in text: TP53: R248W
PMID: 31548343
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Ceritinib-Induced Regression of an Insulin-Like Growth Factor-Driven Neuroepithelial Brain Tumor.

International Journal Of Molecular Sciences
A Russo, C Paret, F Alt, J Burhenne, M Fresnais, W Wagner, M Glaser, H Bender, S Huprich, PN Harter, K Filipski, N Lehmann, N Backes, L Roth, L Seidmann, C Sommer, MA Brockmann, T Pietsch, MA Neu, A Wingerter, J Faber
Publication Date: 2019-08-30

Variant appearance in text: TP53: 742C>T; Arg248Trp; rs121912651
PMID: 31480400
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High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.

Cancers
M Cordova-Delgado, MP Pinto, IN Retamal, M Muñoz-Medel, ML Bravo, MF Fernández, B Cisternas, S Mondaca, C Sanchez, H Galindo, B Nervi, C Ibáñez, F Acevedo, J Madrid, J Peña, E Koch, MJ Maturana, D Romero, N de la Jara, J Torres, M Espinoza, C Balmaceda, Y Liao, Z Li, M Freire, V Gárate-Calderón, J Cáceres, G Sepúlveda-Hermosilla, R Lizana, L Ramos, R Artigas, E Norero, F Crovari, R Armisén, AH Corvalán, GI Owen, M Garrido
Publication Date: 2019-08-30

Variant appearance in text: TP53: R248W
PMID: 31480291
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P53-R273H mutation enhances colorectal cancer stemness through regulating specific lncRNAs.

Journal Of Experimental & Clinical Cancer Research : Cr
Y Zhao, Y Li, J Sheng, F Wu, K Li, R Huang, X Wang, T Jiao, X Guan, Y Lu, X Chen, Z Luo, Y Zhou, H Hu, W Liu, B Du, S Miao, J Cai, L Wang, H Zhao, J Ying, X Bi, W Song
Publication Date: 2019-08-28

Variant appearance in text: p53: R248W
PMID: 31455383
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Targeted sequencing of circulating cell-free DNA in stage II-III resectable oesophageal squamous cell carcinoma patients.

Bmc Cancer
P Meng, J Wei, Y Geng, S Chen, MM Terpstra, Q Huang, Q Zhang, Z Su, W Yu, M Su, K Kok, A van den Berg, J Gu
Publication Date: 2019-08-20

Variant appearance in text: TP53: Arg248Trp
PMID: 31429737
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ARF6 and AMAP1 are major targets of KRAS and TP53 mutations to promote invasion, PD-L1 dynamics, and immune evasion of pancreatic cancer.

Proceedings Of The National Academy Of Sciences Of The United States Of America
S Hashimoto, S Furukawa, A Hashimoto, A Tsutaho, A Fukao, Y Sakamura, G Parajuli, Y Onodera, Y Otsuka, H Handa, T Oikawa, S Hata, Y Nishikawa, Y Mizukami, Y Kodama, M Murakami, T Fujiwara, S Hirano, H Sabe
Publication Date: 2019-08-27

Variant appearance in text: TP53: R248W
PMID: 31399545
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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
M Casula, P Paliogiannis, F Ayala, V De Giorgi, I Stanganelli, M Mandalà, M Colombino, A Manca, MC Sini, C Caracò, PA Ascierto, RR Satta, , A Lissia, A Cossu, G Palmieri,
Publication Date: 2019-08-05

Variant appearance in text: TP53: R248W
PMID: 31382929
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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
CM Simpson, B Zhang, PV Hornbeck, F Gnad
Publication Date: 2019-07-25

Variant appearance in text: p53: R248W
PMID: 31345222
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[Clinical, molecular and cytogenetic characteristics of newly diagnosed adult acute myeloid patients with TP53 gene mutation].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
WM Chen, H Liu, LD Li, LY Long, YY Lai, HX Shi, XS Zhao, H Jiang, Q Jiang, YR Liu, YZ Qin
Publication Date: 2019-06-14

Variant appearance in text: TP53: R248W
PMID: 31340630
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Orally bioavailable glutamine antagonist prodrug JHU-083 penetrates mouse brain and suppresses the growth of MYC-driven medulloblastoma.

Translational Oncology
AR Hanaford, J Alt, R Rais, SZ Wang, H Kaur, DLJ Thorek, CG Eberhart, BS Slusher, AM Martin, EH Raabe
Publication Date: 2019-10

Variant appearance in text: TP53: R248W
PMID: 31340195
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Iron regulatory protein 2 is a suppressor of mutant p53 in tumorigenesis.

Oncogene
Y Zhang, X Feng, J Zhang, M Chen, E Huang, X Chen
Publication Date: 2019-08

Variant appearance in text: p53: R248W
PMID: 31332290
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Outcompeting p53-Mutant Cells in the Normal Esophagus by Redox Manipulation.

Cell Stem Cell
D Fernandez-Antoran, G Piedrafita, K Murai, SH Ong, A Herms, C Frezza, PH Jones
Publication Date: 2019-09-05

Variant appearance in text: TP53: R248W
PMID: 31327664
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Simulated microgravity enhances CDDP-induced apoptosis signal via p53-independent mechanisms in cancer cells.

Plos One
T Fukazawa, K Tanimoto, L Shrestha, T Imura, S Takahashi, T Sueda, N Hirohashi, E Hiyama, L Yuge
Publication Date: 2019

Variant appearance in text: p53: R248W
PMID: 31323026
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Liquid biopsy-based comprehensive gene mutation profiling for gynecological cancer using CAncer Personalized Profiling by deep Sequencing.

Scientific Reports
N Iwahashi, K Sakai, T Noguchi, T Yahata, H Matsukawa, S Toujima, K Nishio, K Ino
Publication Date: 2019-07-18

Variant appearance in text: TP53: R248W
PMID: 31320709
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Hsp90β interacts with MDM2 to suppress p53-dependent senescence during skeletal muscle regeneration.

Aging Cell
MY He, SB Xu, ZH Qu, YM Guo, XC Liu, XX Cong, JF Wang, BC Low, L Li, Q Wu, P Lin, SG Yan, Z Bao, YT Zhou, LL Zheng
Publication Date: 2019-10

Variant appearance in text: p53: R248W
PMID: 31313490
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p53 mutant-type in human prostate cancer cells determines the sensitivity to phenethyl isothiocyanate induced growth inhibition.

Journal Of Experimental & Clinical Cancer Research : Cr
M Aggarwal, R Saxena, N Asif, E Sinclair, J Tan, I Cruz, D Berry, B Kallakury, Q Pham, TTY Wang, FL Chung
Publication Date: 2019-07-15

Variant appearance in text: p53: R248W
PMID: 31307507
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Temporal and differential regulation of KAISO-controlled transcription by phosphorylated and acetylated p53 highlights a crucial regulatory role of apoptosis.

The Journal Of Biological Chemistry
SH Choi, DI Koh, SY Cho, MK Kim, KS Kim, MW Hur
Publication Date: 2019-08-30

Variant appearance in text: p53: R248W
PMID: 31296660
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Gain-of-function mutant p53: history and speculation.

Journal Of Molecular Cell Biology
J Bargonetti, C Prives
Publication Date: 2019-07-19

Variant appearance in text: p53: R248W
PMID: 31283823
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p53-Dependent Anti-Proliferative and Pro-Apoptotic Effects of a Gold(I) N-Heterocyclic Carbene (NHC) Complex in Colorectal Cancer Cells.

Frontiers In Oncology
Y Dabiri, MA Abu El Maaty, HY Chan, J Wölker, I Ott, S Wölfl, X Cheng
Publication Date: 2019

Variant appearance in text: p53: R248W
PMID: 31231607
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Genomic analysis of pancreatic juice DNA assesses malignant risk of intraductal papillary mucinous neoplasm of pancreas.

Cancer Medicine
RN Mateos, H Nakagawa, S Hirono, S Takano, M Fukasawa, A Yanagisawa, S Yasukawa, K Maejima, A Oku-Sasaki, K Nakano, M Dutta, H Tanaka, S Miyano, N Enomoto, H Yamaue, K Nakai, M Fujita
Publication Date: 2019-08

Variant appearance in text: TP53: R248W
PMID: 31225717
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Bile cell‑free DNA as a novel and powerful liquid biopsy for detecting somatic variants in biliary tract cancer.

Oncology Reports
N Shen, D Zhang, L Yin, Y Qiu, J Liu, W Yu, X Fu, B Zhu, X Xu, A Duan, Z Chen, X Wang, X Cao, T Zhao, Z Zhou, L Yu, H Qin, Z Fang, JY Li, Y Liu, L Xiong, B Yuan, F Li, Y Zhang
Publication Date: 2019-08

Variant appearance in text: TP53: R248W
PMID: 31173267
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RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.

Science (New York, N.Y.)
K Yizhak, F Aguet, J Kim, JM Hess, K Kübler, J Grimsby, R Frazer, H Zhang, NJ Haradhvala, D Rosebrock, D Livitz, X Li, E Arich-Landkof, N Shoresh, C Stewart, AV Segrè, PA Branton, P Polak, KG Ardlie, G Getz
Publication Date: 2019-06-07

Variant appearance in text: TP53: R248W
PMID: 31171663
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Characterization of frequently mutated cancer genes in Chinese breast tumors: a comparison of Chinese and TCGA cohorts.

Annals Of Translational Medicine
G Zhang, Y Wang, B Chen, L Guo, L Cao, C Ren, L Wen, K Li, M Jia, C Li, H Mok, X Chen, G Wei, J Lin, Z Zhang, T Hou, H Han-Zhang, C Liu, H Liu, J Liu, CM Balch, F Meric-Bernstam, N Liao
Publication Date: 2019-04

Variant appearance in text: TP53: 742C>T
PMID: 31168460
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Unique Neoantigens Arise from Somatic Mutations in Patients with Gastrointestinal Cancers.

Cancer Discovery
MR Parkhurst, PF Robbins, E Tran, TD Prickett, JJ Gartner, L Jia, G Ivey, YF Li, M El-Gamil, A Lalani, JS Crystal, A Sachs, E Groh, S Ray, LT Ngo, S Kivitz, A Pasetto, R Yossef, FJ Lowery, SL Goff, W Lo, G Cafri, DC Deniger, P Malekzadeh, M Ahmadzadeh, JR Wunderlich, RPT Somerville, SA Rosenberg
Publication Date: 2019-08

Variant appearance in text: TP53: R248W
PMID: 31164343
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Comprehensive genomic profiling of high-grade serous ovarian carcinoma from Chinese patients identifies co-occurring mutations in the Ras/Raf pathway with TP53.

Cancer Medicine
F Zhong, T Zhu, X Pan, Y Zhang, H Yang, X Wang, J Hu, H Han, L Mei, D Chen, K Wang, X Zhou, X Li, X Dong
Publication Date: 2019-07

Variant appearance in text: TP53: R248W
PMID: 31124283
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000269305.4 c.742C>T p.Arg248Trp missense_variant 7/11 -
ENST00000359597.4 c.742C>T p.Arg248Trp missense_variant 6/9 -
ENST00000413465.2 c.742C>T p.Arg248Trp missense_variant 6/7 -
ENST00000420246.2 c.742C>T p.Arg248Trp missense_variant 7/12 -
ENST00000445888.2 c.742C>T p.Arg248Trp missense_variant 7/11 -
ENST00000455263.2 c.742C>T p.Arg248Trp missense_variant 7/12 -
ENST00000504290.1 n.624C>T - non_coding_transcript_exon_variant 3/8 -
ENST00000504937.1 n.624C>T - non_coding_transcript_exon_variant 3/7 -
ENST00000509690.1 c.346C>T p.Arg116Trp missense_variant 4/6 -
ENST00000510385.1 n.624C>T - non_coding_transcript_exon_variant 3/8 -
ENST00000514944.1 c.463C>T p.Arg155Trp missense_variant 6/6 -
NM_000546.5 c.742C>T p.Arg248Trp missense_variant 7/11 -
NM_001126112.2 c.742C>T p.Arg248Trp missense_variant 7/11 -
NM_001126113.2 c.742C>T p.Arg248Trp missense_variant 7/12 -
NM_001126114.2 c.742C>T p.Arg248Trp missense_variant 7/12 -
NM_001126115.1 c.346C>T p.Arg116Trp missense_variant 3/7 -
NM_001126116.1 c.346C>T p.Arg116Trp missense_variant 3/8 -
NM_001126117.1 c.346C>T p.Arg116Trp missense_variant 3/8 -
NM_001126118.1 c.625C>T p.Arg209Trp missense_variant 6/10 -
NM_001276695.2 c.625C>T p.Arg209Trp missense_variant 7/12 -
NM_001276696.2 c.625C>T p.Arg209Trp missense_variant 7/12 -
NM_001276697.2 c.265C>T p.Arg89Trp missense_variant 3/7 -
NM_001276698.2 c.265C>T p.Arg89Trp missense_variant 3/8 -
NM_001276699.2 c.265C>T p.Arg89Trp missense_variant 3/8 -
NM_001276760.2 c.625C>T p.Arg209Trp missense_variant 7/11 -
NM_001276761.2 c.625C>T p.Arg209Trp missense_variant 7/11 -