Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R280*
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TP53

NM_000546.6:p.R280*

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Oak N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S2

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Incidence of MSI-H esophageal carcinoma and related identification of genomic alterations: A multi-center real-world study.

Jin J et al.

Human Pathology, 2025

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.

Zatzman M et al.

Biorxiv : the Preprint Server for Biology, 2025

40654861 (PubMed )
Supplement: media-1.xlsx › Table_S1_-_Cohort_Metadata

Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2025

39235515 (PubMed )
Supplement: 428_2024_3912_MOESM1_ESM.xlsx › Mutation_list

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.

de Haan LM et al.

Virchows Archiv : an International Journal of Pathology, 2024

37851120 (PubMed )
Supplement: 428_2023_3676_MOESM3_ESM.xlsx › Sheet1__2_

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples

Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis.

Ono S et al.

Diagnostic Pathology, 2024

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._Table_S4

The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study.

De Luca G et al.

Hematological Oncology, 2022

Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Zhao J et al.

Journal of Thoracic Disease, 2022

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Chen S et al.

Bmc Genomics, 2022

35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Catherwood MA et al.

Frontiers in Oncology, 2022

35837095 (PubMed )
Supplement: Table_1.xlsx › Table_1

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.

Jia B et al.

Frontiers in Oncology, 2022

36741696 (PubMed )
Supplement: DataSheet_1.zip › Supplemental_Table_S2.xlsx › Sheet1

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1

Genetic Analysis and Targeted Therapy Using Buparlisib and MK2206 in a Patient with Triple Metachronous Cancers of the Kidney, Prostate, and Squamous Cell Carcinoma of the Lung: A Case Report.

Zhao T et al.

Oncotargets and Therapy, 2021

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Ke L et al.

Frontiers in Molecular Biosciences, 2021

35118119 (PubMed )
Supplement: Table6.xlsx › Sheet1

Mutagenicity of acrylamide and glycidamide in human TP53 knock-in (Hupki) mouse embryo fibroblasts.

Hölzl-Armstrong L et al.

Archives of Toxicology, 2020

32886187 (PubMed )
Supplement: 204_2020_2878_MOESM1_ESM.pdf

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Yurchenko AA et al.

Nature Communications, 2020

33203900 (PubMed )
Supplement: 41467_2020_19633_MOESM1_ESM.pdf

Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.

Fernández-Mateos J et al.

Scientific Reports, 2020

33024167 (PubMed )
Supplement: 41598_2020_72927_MOESM2_ESM.xlsx › Sheet1

Oral squamous cell carcinoma of the tongue dorsum with multiple cancer-associated mutations in the TP53 gene.

Yamasaki S et al.

Oral Oncology, 2020

Incidental early diagnosis of biphasic pulmonary blastoma in a patient with history of stage IV lung adenocarcinoma.

Kim K et al.

Thoracic Cancer, 2020

Identification of relevant genetic alterations in cancer using topological data analysis.

Rabadán R et al.

Nature Communications, 2020

32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1

TP53 somatic mutations are associated with poor survival in non-small cell lung cancer patients who undergo immunotherapy.

Zhao L et al.

Aging, 2020

32694238 (PubMed )
Supplement: aging-12-103502-s001..xlsx › 67_patients_with_truncating_mut

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Sarasin A et al.

Blood, 2019

Human gastric cancer modelling using organoids.

Seidlitz T et al.

Gut, 2019

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Evaluation of liquid biopsies for detection of emerging mutated genes in metastatic colorectal cancer.

Furuki H et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2018

Identification of frequent somatic mutations in inflammatory breast cancer.

Matsuda N et al.

Breast Cancer Research and Treatment, 2017

TP53 Mutations in Hypodiploid Acute Lymphoblastic Leukemia.

Comeaux EQ et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

Harvey NT et al.

Pathology, 2016

Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.

Fernandez-Cuesta L et al.

Ebiomedicine, 2016

27377626 (PubMed )
Supplement: mmc1.pdf

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

Hou HA et al.

Blood Cancer Journal, 2015

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Schulze K et al.

Nature Genetics, 2015

25822088 (PubMed )
Supplement: NIHMS62359-supplement-3.pdf

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool.

Poon SL et al.

Science Translational Medicine, 2013

23926199 (PubMed )
Supplement: 5-197ra101_sm.pdf

Genetic alteration and immunohistochemical staining patterns of ovarian high-grade serous adenocarcinoma with special emphasis on p53 immnnostaining pattern.

Lee SH et al.

Pathology International, 2013

Correlation of telomere length shortening with TP53 somatic mutations, polymorphisms and allelic loss in breast tumors and esophageal cancer.

Hao XD et al.

Oncology Reports, 2013

The rebel angel: mutant p53 as the driving oncogene in breast cancer.

Walerych D et al.

Carcinogenesis, 2012

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers.

Kumar A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."