Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.F109C
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TP53

NM_000546.6:p.F109C

Associated Papers

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

Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.

Zurera M et al.

Clinical Lung Cancer, 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

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_MOESM7_ESM.xlsx › Sheet1

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_3

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Distinct molecular signatures of upper tract urothelial carcinoma in Southwestern Taiwan: implications for targeted therapy and disease progression.

Shen CH et al.

American Journal of Cancer Research, 2025

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

Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.

Byrjalsen A et al.

Journal of Medical Genetics, 2024

Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.

Wang Q et al.

Molecular Diagnosis & Therapy, 2024

38896179 (PubMed )
Supplement: 40291_2024_721_MOESM1_ESM.xlsx › SNV

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

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 › AML

p53/TP53 Status Assessment in Gastroesophageal Adenocarcinoma.

Boldrin E et al.

Cancers, 2023

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

Correlation Analysis of the TP53 Mutation With Clinical Characteristics in the Prognosis of Non-Small Cell Lung Cancer.

Zhu L et al.

Clinical Medicine Insights. Oncology, 2023

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

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_8.xlsx › Sheet1

Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Li Z et al.

Npj Breast Cancer, 2022

35538119 (PubMed )
Supplement: 41523_2022_426_MOESM1_ESM.pdf

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1A._Positive_Set

Genetic Characteristics of Resectable Colorectal Cancer with Pulmonary Metastasis.

Qiu YY et al.

Canadian Journal of Gastroenterology & Hepatology, 2022

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Frontzek F et al.

Nature Communications, 2021

34465776 (PubMed )
Supplement: 41467_2021_25405_MOESM2_ESM.pdf

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s003.xlsx › Sheet1

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s005.xlsx › Sheet1

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

28522256 (PubMed )
Supplement: NIHMS1058936-supplement-Table_S3.xlsx › VCF

Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.

Köbel M et al.

The Journal of Pathology. Clinical Research, 2016

27840695 (PubMed )
Supplement: CJP2-2-247-s010.xlsx › Koebel_TP53_data.txt

Reporting tumor molecular heterogeneity in histopathological diagnosis.

Mafficini A et al.

Plos One, 2014

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5
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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."