Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q52fs
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TP53

NM_000546.6:p.Q52fs

Associated Papers

Identification of the Carcinogenic Process from Lobular Endocervical Glandular Hyperplasia to Gastric-Type Adenocarcinoma of the Uterine Cervix via Whole-Exome Sequencing.

Kuruma A et al.

Cancers, 2026

41749904 (PubMed )
Supplement: cancers-18-00651-s001.zip › Supplementary_Table_S4.xlsx › Supple_Table_4

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

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

Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.

Tatunay K et al.

Bmj Open, 2025

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

Khalil SS et al.

Cureus, 2024

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › MDS

Single-cell genomic variation induced by mutational processes in cancer.

Funnell T et al.

Nature, 2022

36289342 (PubMed )
Supplement: 41586_2022_5249_MOESM5_ESM.xlsx › 184hTERT_mutations

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

TP53 Mutation and Extraneural Metastasis of Glioblastoma: Insights From an Institutional Experience and Comprehensive Literature Review.

Zhang X et al.

The American Journal of Surgical Pathology, 2021

Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Oh J et al.

Journal of Cancer, 2021

34093829 (PubMed )
Supplement: jcav12p4288s2.xlsx › Table_S3

Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.

Pondrom M et al.

Pediatric Blood & Cancer, 2020

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.

Gao F et al.

Genome Research, 2020

32817165 (PubMed )
Supplement: supp_gr.249599.119_Supplementary_Table_S10.xlsx › FMs_in_discovery_set

TP53 somatic mutations are associated with poor survival in non-small cell lung cancer patients who undergo immunotherapy.

Zhao L et al.

Aging, 2020

32694238 (PubMed )
Supplement: aging-12-103502-s001..xlsx › 67_patients_with_truncating_mut

Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Choi MC et al.

Cancer Research and Treatment, 2020

32019284 (PubMed )
Supplement: crt-2019-207-suppl1.pdf

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

New Challenges in Tumor Mutation Heterogeneity in Advanced Ovarian Cancer by a Targeted Next-Generation Sequencing (NGS) Approach.

Garziera M et al.

Cells, 2019

TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions.

Shirole NH et al.

Elife, 2016

27759562 (PubMed )
Supplement: elife-17929-supp2.xlsx › Sheet3
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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."