Associated Papers
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.
Sun Zhang A et al.
Scientific Reports, 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
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
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
Greene BL et al.
Frontiers in Oncology, 2024
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
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
36561320 (PubMed )
Supplement: Table2.xlsx › TP53
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.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
Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.
Tam B et al.
Computational and Structural Biotechnology Journal, 2020
33363700 (PubMed )
Supplement: mmc1.xlsx › Sheet1
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016
26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf
A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.
Pekova S et al.
Leukemia Research, 2011
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