Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.T125_Y126Splc
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TP53

NM_000546.6:p.T125_Y126Splc

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_2

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

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

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_36-120d_TISF

Cancer associated variant enrichment CAVE, a gene agnostic approach to identify low burden variants in chronic lymphocytic leukemia.

Yaacov A et al.

Scientific Reports, 2024

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Leukemia, 2024

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Medrxiv : the Preprint Server for Health Sciences, 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

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

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

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Borcoman E et al.

International Journal of Molecular Sciences, 2023

37511329 (PubMed )
Supplement: ijms-24-11570-s001.zip › ijms-2309018-supplementary.pdf

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

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

Cifuentes GA et al.

British Journal of Cancer, 2023

36550207 (PubMed )
Supplement: 41416_2022_2102_MOESM6_ESM.xlsx › Supplementary_table_3

The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Jin Y et al.

Journal of Oncology, 2023

Correlation Analysis of the TP53 Mutation With Clinical Characteristics in the Prognosis of Non-Small Cell Lung Cancer.

Zhu L et al.

Clinical Medicine Insights. Oncology, 2023

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Li Z et al.

Bmc Pulmonary Medicine, 2022

36123678 (PubMed )
Supplement: 12890_2022_2161_MOESM2_ESM.xlsx › OAK_POPLAR_btmb_variants

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

Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting.

Pandzic T et al.

Hemasphere, 2022

A Four-Year-Old Female With a Rare P53 Gene Mutation Diagnosed With Li-Fraumeni Syndrome and Concomitant Metastatic Rhabdomyosarcoma: A Case Report.

Donato UM et al.

Cureus, 2022

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

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Wang P et al.

Signal Transduction and Targeted Therapy, 2021

34719670 (PubMed )
Supplement: 41392_2021_773_MOESM2_ESM.xlsx › NGS_report

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

34445631 (PubMed )
Supplement: ijms-22-08924-s001.zip › Table_S1.pdf

Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.

Haupts A et al.

Scientific Reports, 2021

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

Next-Generation Sequencing of Synchronous Multiple Primary Lung Cancers in a Patient with Squamous Cell Carcinoma and Small Cell Lung Cancer.

Wu X et al.

Oncotargets and Therapy, 2020

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

New Challenges in Tumor Mutation Heterogeneity in Advanced Ovarian Cancer by a Targeted Next-Generation Sequencing (NGS) Approach.

Garziera M et al.

Cells, 2019

31197119 (PubMed )
Supplement: cells-08-00584-s001.zip › Table_S1-1.xlsx › Foglio1

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Genomic Alterations in Circulating Tumor DNA from Diverse Cancer Patients Identified by Next-Generation Sequencing.

Schwaederle M et al.

Cancer Research, 2017

StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Sen M et al.

Cancer Medicine, 2017

28371134 (PubMed )
Supplement: CAM4-6-883-s002.xlsx › S16_SAvs48-gene_test

Deep Sequencing Analysis Reveals That KRAS Mutation Is a Marker of Poor Prognosis in Patients with Pulmonary Sarcomatoid Carcinoma.

Lococo F et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016

Complex analysis of the p53 tumor suppressor in lung carcinoma.

Smardova J et al.

Oncology Reports, 2016

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

Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

Soubeyran I et al.

The American Journal of Pathology, 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."