Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S261Splc
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TP53

NM_000546.6:p.S261Splc

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 › TableS3

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

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

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

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

TP53 mutations and survival in ovarian carcinoma patients receiving first-line chemotherapy plus bevacizumab: Results of the MITO16A/MaNGO OV-2 study.

Bignotti E et al.

International Journal of Cancer, 2025

39415516 (PubMed )
Supplement: IJC-156-1085-s004.xlsx › Mutations_detail

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

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

Fortuno C et al.

Human Genomics, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.

Vasseur D et al.

Npj Precision Oncology, 2024

38409229 (PubMed )
Supplement: 41698_2024_544_MOESM2_ESM.pdf

BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.

Richau CS et al.

Cancer Medicine, 2024

38308422 (PubMed )
Supplement: CAM4-13-e6729-s006.xlsx › Somatic_DC_VAF_TR

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

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

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

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

Harmonized molecular classification; assessment of a single-test ProMisE NGS tool.

Jamieson A et al.

Gynecologic Oncology, 2023

Spatial and temporal intra-tumoral heterogeneity in advanced HGSOC: Implications for surgical and clinical outcomes.

Cunnea P et al.

Cell Reports. Medicine, 2023

37220750 (PubMed )
Supplement: mmc2.xlsx › Table_S1g

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

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

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

Report of two patients in whom comparisons of the somatic mutation profile were useful for the diagnosis of metastatic tumors.

Furukawa K et al.

Surgical Case Reports, 2022

36459241 (PubMed )
Supplement: 40792_2022_1566_MOESM2_ESM.pdf

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis.

Ciccarone F et al.

Cancers, 2022

35454841 (PubMed )
Supplement: cancers-14-01934-s001.zip › cancers-1660929-supplementary.pdf

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

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

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

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3

Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.

Paulsson JO et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS.

Rose Brannon A et al.

Nature Communications, 2021

34145282 (PubMed )
Supplement: 41467_2021_24109_MOESM4_ESM.xlsx › Supplementary_Data_1

Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Ouseph MM et al.

Haematologica, 2021

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_2.xlsx › Sheet1

A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.

Lorenz J et al.

Acta Neuropathologica Communications, 2020

32758285 (PubMed )
Supplement: 40478_2020_1000_MOESM4_ESM.xlsx › Tabelle1

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

Yokouchi H et al.

Heliyon, 2020

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

Transcriptional and functional consequences of TP53 splice mutations in colorectal cancer.

Smeby J et al.

Oncogenesis, 2019

Integrated Genomic, Epigenomic, and Expression Analyses of Ovarian Cancer Cell Lines.

Papp E et al.

Cell Reports, 2018

30485824 (PubMed )
Supplement: NIHMS1010161-supplement-Suppl_Tables.xlsx › S1f

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

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

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc7.pdf
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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."