Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E17K
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TP53

NM_000546.6:p.E17K

Associated Papers

Next-Generation Sequencing-Based Detection of KRAS G12D Variants in Colorectal Cancer: A Retrospective Cohort Study.

Hekimoglu G et al.

Genes, 2026

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Precision Medicine Program in Chinese Pediatric Patients With Sarcoma.

Lu S et al.

Jco Precision Oncology, 2026

41533994 (PubMed )
Supplement: po-10-e2500428-s002.pdf

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

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_MOESM2_ESM.xlsx › Table_S2

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s001.docx

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Genomic differences of patients with hematologic malignancies in different age groups.

Yang X et al.

Communications Biology, 2024

39643631 (PubMed )
Supplement: 42003_2024_7293_MOESM4_ESM.xlsx › Supplementarty_Table_S19

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.

Nakauma-González JA et al.

Cell Genomics, 2024

38552621 (PubMed )
Supplement: mmc11.pdf

Identification of an optimal mutant allele frequency to detect activating KRAS, NRAS, and BRAF mutations in a commercial cell-free DNA next-generation sequencing assay in colorectal and pancreatic adenocarcinomas.

Caughey BA et al.

Journal of Gastrointestinal Oncology, 2023

37969845 (PubMed )
Supplement: jgo-14-05-2083-supplementary.pdf

Landscape of Genetic Mutations in Appendiceal Cancers.

Constantin M et al.

Cancers, 2023

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s001.docx

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_S1

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 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

Serial circulating tumor DNA monitoring of CDK4/6 inhibitors response in metastatic breast cancer.

Chin YM et al.

Cancer Science, 2022

35201661 (PubMed )
Supplement: CAS-113-1808-s001.docx

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

Sclerosing Polycystic Adenoma of Salivary Glands: A Novel Neoplasm Characterized by PI3K-AKT Pathway Alterations-New Insights Into a Challenging Entity.

Skálová A et al.

The American Journal of Surgical Pathology, 2022

A state-of-the-art review of stratified medicine in cancer: towards a future precision medicine strategy in cancer.

Middleton G et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2022

Surface residues and nonadditive interactions stabilize a consensus homeodomain protein.

Sternke M et al.

Biophysical Journal, 2021

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › AR_variants

The molecular mechanism behind protein kinase B natural mutant E17K affecting the allosteric inhibitor sensitivity: a molecular dynamics simulation study.

Wang Y et al.

Journal of Biomolecular Structure & Dynamics, 2021

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer.

Belardinilli F et al.

Frontiers in Oncology, 2020

32457828 (PubMed )
Supplement: Table_1.xlsx › Table_S1

Glucose and glutamine metabolism in relation to mutational status in NSCLC histological subtypes.

Meijer TWH et al.

Thoracic Cancer, 2019

31668020 (PubMed )
Supplement: TCA-10-2289-s002.xlsx › Blad1

A mutation analysis of the EGFR pathway genes, RAS, EGFR, PIK3CA, AKT1 and BRAF, and TP53 gene in thymic carcinoma and thymoma type A/B3.

Sakane T et al.

Histopathology, 2019

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Diagnostic Significance of HRAS Mutations in Epithelial-Myoepithelial Carcinomas Exhibiting a Broad Histopathologic Spectrum.

Urano M et al.

The American Journal of Surgical Pathology, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients.

Oltmann J et al.

Genes, Chromosomes & Cancer, 2018

Prognostic and histogenetic roles of gene alteration and the expression of key potentially actionable targets in salivary duct carcinomas.

Shimura T et al.

Oncotarget, 2018

29416736 (PubMed )
Supplement: oncotarget-09-1852-s001.pdf

Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population.

López-Cortés A et al.

Biomed Research International, 2018

[BRAF mutation in progression and therapy of melanoma, papillary thyroid carcinoma and colorectal adenocarcinoma].

Zaleśna I et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays.

Sims DJ et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

Systematic Prioritization of Druggable Mutations in ∼5000 Genomes Across 16 Cancer Types Using a Structural Genomics-based Approach.

Zhao J et al.

Molecular & Cellular Proteomics : Mcp, 2016

Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers.

D'Haene N et al.

Plos One, 2015

Mutation frequency in 15 common cancer genes in high-risk head and neck squamous cell carcinoma.

McBride SM et al.

Head & Neck, 2014

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing.

Hoang ML et al.

Science Translational Medicine, 2013

Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes.

Boyault S et al.

Breast Cancer Research and Treatment, 2012

Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to osteosarcoma.

Liu Y et al.

Dna and Cell Biology, 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."