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
Phenotypical mapping of TP53 unique missense mutations spectrum in human cancers.
Malhotra L et al.
Journal of Biomolecular Structure & Dynamics, 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
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
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 › CDKN2A
CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes.
Danishevich A et al.
Biomedicines, 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_S1
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1
Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.
Eich ML et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
31028363 (PubMed )
Supplement: NIHMS1525315-supplement-2.xlsx › Sheet1
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement
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
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.
Chan SH et al.
Npj Genomic Medicine, 2016
29263814 (PubMed )
Supplement: npjgenmed201615-s1.doc
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_
The use of hierarchical models for estimating relative risks of individual genetic variants: an application to a study of melanoma.
Capanu M et al.
Statistics in Medicine, 2008
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