Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224*
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TP53

NM_000546.6:p.E224*

Associated Papers

Comparative Analysis of TP53-Mutated Tumor DNA in Saliva and Plasma of Patients with Head and Neck Squamous Cell Carcinoma.

Kampel L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan S et al.

Bmc Genomics, 2025

41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf

Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.

Takamatsu S et al.

Scientific Reports, 2025

41168225 (PubMed )
Supplement: 41598_2025_21907_MOESM2_ESM.xlsx › SupTable_somatic_pathogenic_mut

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

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_3

Large clones of clonal hematopoiesis affect outcome in mantle cell lymphoma: results from the FIL MCL0208 clinical trial.

Ragaini S et al.

Blood Advances, 2025

39808795 (PubMed )
Supplement: BLOODA_ADV-2024-014948-mmc1.pdf

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.

Mahmoud AA et al.

Plos One, 2025

40333905 (PubMed )
Supplement: pone.0307859.s001.xlsx › Sheet10

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › Dysplasia

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

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

Mutated TP53 in Circulating Tumor DNA as a Risk Level Biomarker in Head and Neck Squamous Cell Carcinoma Patients.

Kampel L et al.

Biomolecules, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Clinicopathologic and genomic features of lobular like invasive mammary carcinoma: is it a distinct entity?

Yu J et al.

Npj Breast Cancer, 2023

37443169 (PubMed )
Supplement: 41523_2023_566_MOESM1_ESM.pdf

Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Lee K et al.

Scientific Reports, 2023

p53 Expression in Luminal Breast Cancer Correlates With TP53 Mutation and Primary Endocrine Resistance.

Mueller S et al.

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

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 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

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

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

De Luca G et al.

Hematological Oncology, 2022

Potential Targeted Therapies in Ovarian Cancer.

Sisman Y et al.

Pharmaceuticals (basel, Switzerland), 2022

36355495 (PubMed )
Supplement: pharmaceuticals-15-01324-s001.zip › Supplementary_material_Table_S3_.pdf

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

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

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM9_ESM.xlsx › DuplexSeq_all

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

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

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

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical

TP53 mutations are associated with primary endocrine resistance in luminal early breast cancer.

Grote I et al.

Cancer Medicine, 2021

34779146 (PubMed )
Supplement: CAM4-10-8581-s002.xlsx › Supplementary_Table_S2

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

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

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

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

Novel somatic alterations underlie Chinese papillary thyroid carcinoma.

Yang C et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

32065787 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-191200.xlsx › Table_S5

Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.

Jan M et al.

Blood Advances, 2019

31324640 (PubMed )
Supplement: baadv2019000445-suppl6.xlsx › Recurrent_Mutations_in_MN

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

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

TP53 Gene Status Affects Survival in Advanced Mycosis Fungoides.

Wooler G et al.

Frontiers in Medicine, 2016

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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."