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
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
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3
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
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
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53
Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.
Tam B et al.
Briefings in Bioinformatics, 2024
39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1
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_S1
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.1.
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S et al.
Journal of Medical Genetics, 2021
33051313 (PubMed )
Supplement: jmedgenet-2020-107059supp002.pdf
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1
Deciphering the clonal relationship between glandular and squamous components in adenosquamous carcinoma of the lung using whole exome sequencing.
Krause A et al.
Lung Cancer (amsterdam, Netherlands), 2020
Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.
D'Oronzo S et al.
Scientific Reports, 2019
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Mithraprabhu S et al.
Cancers, 2019
31261969 (PubMed )
Supplement: cancers-11-00917-s001.xlsx › TAS_results_n_36__31_RR__5_ND_
Clinical and Molecular Characteristics of Thalamic Gliomas: Retrospective Report of 26 Cases.
Liu Y et al.
World Neurosurgery, 2019
Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.
Liu X et al.
Ebiomedicine, 2019
30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_in_cfDNA_and_tissue
Comparison of plasma to tissue DNA mutations in surgical patients with non-small cell lung cancer.
Chen K et al.
The Journal of Thoracic and Cardiovascular Surgery, 2017
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Zerdoumi Y et al.
Human Molecular Genetics, 2017
Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.
Engin HB et al.
Plos One, 2016
27043210 (PubMed )
Supplement: pone.0152929.s003.xlsx › mut_effects_per_ppi
Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.
Patil V et al.
Oncotarget, 2015
26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Betge J et al.
Plos One, 2015
26010451 (PubMed )
Supplement: pone.0127146.s011.pdf
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