Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q100*
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TP53

NM_000546.6:p.Q100*

Associated Papers

Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.

Yamazaki F et al.

Cancer Science, 2025

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

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S3

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

41294844 (PubMed )
Supplement: cells-14-01791-s001.zip › cells-3910392-supplementary › Table_S2.xlsx › Table_S3

Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.

Ammous-Boukhris N et al.

Bmc Cancer, 2025

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

Multigene germline and somatic testing for epithelial ovarian cancer in China.

Li L et al.

Npj Precision Oncology, 2025

40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.

Galante PAF et al.

Lancet Regional Health. Americas, 2025

39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The genomic analysis of patients with musculoskeletal metastases from an unknown origin.

Eastley N et al.

Surgical Oncology, 2025

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s008.xlsx › Table_S7

Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.

Cristofoletti C et al.

Frontiers in Immunology, 2025

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

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

Khalil SS et al.

Cureus, 2024

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

The correlation between clinical outcomes and genomic analysis with high risk factors for the progression of osteosarcoma.

Liu W et al.

Molecular Oncology, 2024

37727135 (PubMed )
Supplement: MOL2-18-939-s001.pdf

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

Genetic landscape and PD-L1 expression in Epstein-Barr virus-associated gastric cancer according to the histological pattern.

Park JH et al.

Scientific Reports, 2023

37945587 (PubMed )
Supplement: 41598_2023_45930_MOESM1_ESM.pdf

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

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

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.

Steffens Reinhardt L et al.

International Journal of Molecular Sciences, 2023

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

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

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

RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.

Wang Q et al.

Frontiers in Oncology, 2023

37441425 (PubMed )
Supplement: Table_3.xlsx › mutations

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

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3

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

De Luca G et al.

Hematological Oncology, 2022

35961859 (PubMed )
Supplement: HON-40-962-s001.xlsx › Foglio1

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

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

High-throughput functional evaluation of human cancer-associated mutations using base editors.

Kim Y et al.

Nature Biotechnology, 2022

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Tibiletti MG et al.

Biomedicines, 2022

35625944 (PubMed )
Supplement: biomedicines-10-01208-s001.zip › biomedicines-1723870-supplementary.pdf

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.2.

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

Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma.

Cao L et al.

Frontiers in Genetics, 2022

Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma.

Thind AS et al.

Frontiers in Oncology, 2022

35982973 (PubMed )
Supplement: Table_4.xls › Variant_details_of_coding_drive

Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.

Malcikova J et al.

Blood, 2021

33945616 (PubMed )
Supplement: 10.1182-2020009530_bloodbld2020009530-suppl3.xlsx › Table_S13

Efficient Generation of P53 Biallelic Mutations in Diannan Miniature Pigs Using RNA-Guided Base Editing.

Li H et al.

Life (basel, Switzerland), 2021

Detection of actionable mutations in archived cytological bile specimens.

Ohyama H et al.

Journal of Hepato-biliary-pancreatic Sciences, 2021

Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.

Liebs S et al.

Oncogene, 2021

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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."