Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P72R
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TP53

NM_000546.6:p.P72R

Associated Papers

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

Jansche R et al.

Cell Death & Disease, 2026

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

Clinical and genetic insights into novel TP53 mutations in De Novo AML patients.

Akram AM et al.

Clinical and Experimental Medicine, 2026

Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case.

Zhang T et al.

Annals of Hematology, 2026

Convergence for Inactivation of TGF-β Signaling Is a Common Feature of Advanced Pancreatic Cancer.

Hong J et al.

Cancer Discovery, 2026

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Pal T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Association of p53 Pro72Arg Polymorphism with Hepatocellular Carcinoma Risk in Hepatitis B Across Multiethnic Populations.

Kholili U et al.

Cancers, 2026

Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.

Yang Y et al.

Human Pathology, 2026

The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Cylwik D et al.

Cancers, 2026

Prospective tumour mutation burden and neoantigen profiling predicts immunotherapy response in metastatic melanoma.

Mao Y et al.

Npj Precision Oncology, 2026

41571736 (PubMed )
Supplement: 41698_2025_1230_MOESM1_ESM.pdf

Genomic evolution of pancreatic cancer at single-cell resolution.

Zhang H et al.

Nature Genetics, 2026

41571832 (PubMed )
Supplement: 41588_2025_2468_MOESM1_ESM.pdf

Multimodal antigenic escape to GPRC5D-targeted T cell engagers in multiple myeloma.

Lee H et al.

Nature Medicine, 2026

Expanding the Molecular Characterization of Adenoid Ameloblastoma by Assessing a Panel of Oncogenes and Tumor Suppressor Genes.

Fonseca YG et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026

Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.

Onyia AF et al.

Cancer Genetics, 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

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

Allele frequency of CTLA-4 rs231775 (+49 A>G) gene polymorphism and its association with cancer susceptibility in the Saudi Arabian population and other ethnic groups.

Akhtar MS et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2025

Exploring p53 isoforms: unraveling heterogeneous p53 tumor suppressor functionality in uveal melanoma.

Bartolomei L et al.

Cell Death Discovery, 2025

41350348 (PubMed )
Supplement: 41420_2025_2891_MOESM16_ESM.docx

Diagnostic and Prognostic Implications of FGFR3, TP53 Mutation and Urinary Biomarkers in Urothelial Carcinoma in Pakistani Cohort.

Asif M et al.

Journal of Clinical Medicine, 2025

Misclassification of TP53 germline variants: implications for survival analysis in AML transplant studies.

Rodriguez L et al.

Leukemia, 2025

Identifying actionable genetic mutations and microsatellite instability in liquid biopsy of colorectal cancer.

Kassem NM et al.

Journal, Genetic Engineering & Biotechnology, 2025

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Nature Communications, 2025

41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM9_ESM.xlsx › TableS5

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

The TP53 "rs 1042522″ Polymorphism and its association with precancerous cervical lesions progression among Tunisian women.

Ben Jemia Z et al.

Diagnostic Microbiology and Infectious Disease, 2025

Segregation of the rare TP53 germline missense variant c.314G>T, p.Gly105Val in Algerian family with Li-Fraumeni Syndrome: First report.

Cherbal F et al.

Cancer Genetics, 2025

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Using artificial intelligence (AI) to model clinical variant reporting for next generation sequencing (NGS) oncology assays.

Doig KD et al.

Biodata Mining, 2025

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

Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.

Eberhard A et al.

Iscience, 2025

41142998 (PubMed )
Supplement: mmc5.xlsx › Table_S4

TP53 P72R Polymorphism Is Associated With P53 Protein Expression in Fatal Prostate Cancer: A Novel Case Report and Review of the Literature.

Asili P et al.

Cureus, 2025

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

Fischer NW et al.

Nature Communications, 2025

Mutational Disruption of TP53: A Structural Approach to Understanding Chemoresistance.

Alsulami AF

International Journal of Molecular Sciences, 2025

Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 2025

41009328 (PubMed )
Supplement: ijms-26-08758-s001.zip › Suppl_Table_1.xlsx › Hoja1

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Impact of TP53 variants and germline mutations on allogeneic stem cell transplantation outcomes in acute myeloid leukemia and myelodysplastic neoplasms.

Zhao Y et al.

Leukemia, 2025

Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.

Yu F et al.

Briefings in Bioinformatics, 2025

40982469 (PubMed )
Supplement: supplemental_materials_1_bbaf483.xlsx › Table_S5_

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.

Zhong G et al.

Nature Communications, 2025

40764308 (PubMed )
Supplement: 41467_2025_62318_MOESM4_ESM.xlsx › Sheet1

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Rashid M et al.

Bmc Medical Genomics, 2025

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Prognostic Relevance of Clinical and Tumor Mutational Profile in High-Grade Serous Ovarian Cancer.

Martín-Vallejo J et al.

International Journal of Molecular Sciences, 2025

40806544 (PubMed )
Supplement: ijms-26-07416-s001.zip › ijms-3735564-supplementary.pdf

Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis (ST3GAL5) and calcium voltage-gated channels (CACNA1H) - insights through molecular dynamic simulations.

Abid R et al.

Journal of Biomolecular Structure & Dynamics, 2025

The TP53 tumor suppressor gene: From molecular biology to clinical investigations.

Baliakas P et al.

Journal of Internal Medicine, 2025

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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."