Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R110fs
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TP53

NM_000546.6:p.R110fs

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

Human fallopian tube epithelial organoids with TP53 mutation recapitulate features of serous tubal intraepithelial carcinoma (STIC).

Kraiczy J et al.

Gynecologic Oncology, 2025

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_S2

Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

Oak N et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40463577 (PubMed )
Supplement: media-1.xlsx › S6._Predisposing_variants

Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.

Szeto S et al.

Cancer Medicine, 2025

40346007 (PubMed )
Supplement: CAM4-14-e70943-s001.docx

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Zanubrutinib, obinutuzumab, and venetoclax for first-line treatment of mantle cell lymphoma with a TP53 mutation.

Kumar A et al.

Blood, 2025

39437708 (PubMed )
Supplement: BLOOD_BLD-2024-025563-mmc1.pdf

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

Comprehensive molecular findings in primary malignant melanoma of the esophagus: A multicenter study.

Deng L et al.

Pigment Cell & Melanoma Research, 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

Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.

Wang HY et al.

Cancer Cell International, 2023

37649078 (PubMed )
Supplement: 12935_2023_3032_MOESM2_ESM.pdf

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

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

p53 immunostaining pattern is a useful surrogate marker for TP53 gene mutations.

Sung YN et al.

Diagnostic Pathology, 2022

36471402 (PubMed )
Supplement: 13000_2022_1273_MOESM1_ESM.docx

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Zhang L et al.

Molecular Oncology, 2022

35971249 (PubMed )
Supplement: MOL2-16-3689-s003.xlsx › Table_S2

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

Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

Penkert J et al.

Journal of Hematology & Oncology, 2022

35974385 (PubMed )
Supplement: 13045_2022_1332_MOESM1_ESM.xlsx › Data

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

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

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

Breast Cancer Patient Prognosis Is Determined by the Interplay between TP53 Mutation and Alternative Transcript Expression: Insights from TP53 Long Amplicon Digital PCR Assays.

Lasham A et al.

Cancers, 2021

33810361 (PubMed )
Supplement: cancers-13-01531-s001.zip › Supplementary_data › Supplementary_Tables.pdf

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

Comparative oncogenomics identifies combinations of driver genes and drug targets in BRCA1-mutated breast cancer.

Annunziato S et al.

Nature Communications, 2019

30674894 (PubMed )
Supplement: 41467_2019_8301_MOESM1_ESM.pdf

Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Nasrallah MP et al.

Academic Pathology, 0

31206012 (PubMed )
Supplement: Supplementary_Table_1.xlsx › Sheet1
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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."