Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224_V225Splc
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TP53

NM_000546.6:p.E224_V225Splc

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS2

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

A subgroup of anaplastic thyroid carcinomas harbors MET alterations with potential therapeutic options.

Theurer S et al.

Pathology, Research and Practice, 2025

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

Molecular Landscape of Metastatic Lung Adenocarcinoma in Bulgarian Patients-A Prospective Study.

Dimitrov G et al.

International Journal of Molecular Sciences, 2025

Metastatic malignant cylindroma arising on a background of digenic inheritance of BRCA2 and CYLD pathogenic variants targeted with PARP inhibition.

Fostier W et al.

Clinical and Experimental Dermatology, 2025

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Vagher J et al.

Jco Precision Oncology, 2025

40540701 (PubMed )
Supplement: DS2_PO-24-00860.xlsx › Supp_Table_1

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Fortuno C et al.

Human Genomics, 2025

39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1

Rapid postoperative platelet decline in a lung adenocarcinoma with sarcomatoid differentiation and concomitant JAK2 V617F mutation: a case report.

Deng L et al.

Frontiers in Oncology, 2025

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

MET alterations as resistance mechanisms of dabrafenib-trametinib in BRAF p.V600E mutated non-small cell lung cancer patient.

Pluchino M et al.

Anti-cancer Drugs, 2024

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer.

Paracchini L et al.

Science Translational Medicine, 2023

38055801 (PubMed )
Supplement: scitranslmed.adi2556_tables_s1_to_s13.zip › adi2556_Tables_S1_to_S13.xlsx › Table_S11

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Utilization of p53 and p16 Immunohistochemistry in the Classification of Human Papillomavirus-Associated, p53 Wild-Type, and p53 Abnormal Oral Epithelial Dysplasia.

Novack R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.

Fernandez SV et al.

International Journal of Molecular Sciences, 2023

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs

Abnormal p53 Immunohistochemical Patterns Shed Light on the Aggressiveness of Oral Epithelial Dysplasia.

Novack R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_2.xlsx › all_patients_lung

Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.

Kuang S et al.

Current Oncology (toronto, Ont.), 2022

35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf

Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Shen F et al.

Frontiers in Oncology, 2022

35814426 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S2

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.

Fujii Y et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2021

34174931 (PubMed )
Supplement: 13046_2021_2016_MOESM2_ESM.xlsx › SupT2

Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Nagano M et al.

Npj Precision Oncology, 2021

34158601 (PubMed )
Supplement: 41698_2021_201_MOESM2_ESM.xlsx › Supplementary_Table_1

Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?

Chang TY et al.

Diagnostics (basel, Switzerland), 2021

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Zhang Y et al.

Scientific Reports, 2021

33432021 (PubMed )
Supplement: 41598_2020_79694_MOESM2_ESM.xlsx › Sheet1

Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Chang YS et al.

Respiratory Research, 2021

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3

Molecular Characterization and Prognostication of Large Cell Neuroendocrine Carcinoma and Large Cell Carcinoma.

Chen Y et al.

Frontiers in Oncology, 2021

35096557 (PubMed )
Supplement: Table_2.xlsx › sheet1

Plasma Cell-Free DNA Testing of Patients With EGFR Mutant Non-Small-Cell Lung Cancer: Droplet Digital PCR Versus Next-Generation Sequencing Compared With Tissue-Based Results.

Steendam CMJ et al.

Jco Precision Oncology, 2019

Clonal Evolution of TP53 c.375+1G>A Mutation in Pre- and Post- Neo-Adjuvant Chemotherapy (NACT) Tumor Samples in High-Grade Serous Ovarian Cancer (HGSOC).

Garziera M et al.

Cells, 2019

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Proposal for a Combined Histomolecular Algorithm to Distinguish Multiple Primary Adenocarcinomas from Intrapulmonary Metastasis in Patients with Multiple Lung Tumors.

Mansuet-Lupo A et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2019

Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma.

Kondrashova O et al.

Nature Communications, 2018

Genomic and transcriptomic heterogeneity in metaplastic carcinomas of the breast.

Piscuoglio S et al.

Npj Breast Cancer, 2017

29214215 (PubMed )
Supplement: 41523_2017_48_MOESM32_ESM.pdf

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Ferrari A et al.

Nature Communications, 2016

27406316 (PubMed )
Supplement: ncomms12222-s3.xlsx › genetab.txt

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

Type-specific cell line models for type-specific ovarian cancer research.

Anglesio MS et al.

Plos One, 2013

The genomic landscape of TP53 and p53 annotated high grade ovarian serous carcinomas from a defined founder population associated with patient outcome.

Wojnarowicz PM et al.

Plos One, 2012

23029043 (PubMed )
Supplement: pone.0045484.s001.xls › Sample_list
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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."