Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R156H
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TP53

NM_000546.6:p.R156H

Associated Papers

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high-grade serous ovarian carcinoma.

Widjaja AO et al.

International Journal of Cancer, 2026

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

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

Gene Expression Profiling Provides an Improved Characterization of CD79B-Mutated Diffuse Large B-Cell Lymphomas.

Grossmann L et al.

Journal of Personalized Medicine, 2025

41295250 (PubMed )
Supplement: jpm-15-00548-s001.zip › jpm-3837571-supplementary.pdf

Undifferentiated embryonal sarcoma of the liver: A clinicopathological and genomic study of 10 cases from a single institution.

Zamiara P et al.

Human Pathology, 2025

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

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

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM1_ESM.pdf

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Kasper E et al.

International Journal of Cancer, 2025

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

Moses R et al.

Biorxiv : the Preprint Server for Biology, 2025

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Vagher J et al.

Jco Precision Oncology, 2025

40540701 (PubMed )
Supplement: DS2_PO-24-00860.xlsx › Supp_Table_1

Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2025

39235515 (PubMed )
Supplement: 428_2024_3912_MOESM1_ESM.xlsx › Mutation_list

In Silico Screening, Molecular Dynamics Simulation and Binding Free Energy Identify Single-Point Mutations That Destabilize p53 and Reduce Binding to DNA.

Islam SM et al.

Proteins, 2025

Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.

Huang H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Generation of two induced pluripotent stem cell lines from patients with Li-Fraumeni Syndrome carrying TP53 mutation.

Sun J et al.

Stem Cell Research, 2024

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

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

Khalil SS et al.

Cureus, 2024

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Boruah N et al.

Biorxiv : the Preprint Server for Biology, 2024

38617260 (PubMed )
Supplement: media-2.xlsx › S3

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Carvalho NA et al.

Journal of Medical Genetics, 2023

37536918 (PubMed )
Supplement: jmg-2023-109269supp001.xlsx › SuppTable_5

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

p53 Immunohistochemical Staining and TP53 Gene Mutations in Endometrial Cancer: Does Null Pattern Correlate With Prognosis?

Sakamoto I et al.

The American Journal of Surgical Pathology, 2023

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_1.xlsx › Table_S1

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

TP53 mutation prevalence in normal airway epithelium as a biomarker for lung cancer risk.

Craig DJ et al.

Bmc Cancer, 2023

37612638 (PubMed )
Supplement: 12885_2023_11266_MOESM1_ESM.xlsx › Sup._Table_5

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

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Ariste O et al.

Clinical Genetics, 2023

36353970 (PubMed )
Supplement: CGE-103-247-s001.xlsx › Variants_in_CHIP_Genes

Distinct clonal identities of B-ALLs arising after lenolidomide therapy for multiple myeloma.

Barnell EK et al.

Blood Advances, 2023

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM5_ESM.xlsx › TP53_Mutations_Comparison

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

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

Evolution of germline TP53 variant classification in children with cancer.

Tallis E et al.

Cancer Genetics, 2022

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Horak P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

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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."