Associated Papers
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.
Wong D et al.
Nature Communications, 2024
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
Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.
Wong D et al.
Cancer Discovery, 2024
37874259 (PubMed )
Supplement: cd-23-0456_table_s2_suppst2.xlsx › Sheet1
An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant.
Walenciak J et al.
Children (basel, Switzerland), 2023
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 › S1B._Negative_Set
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
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
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
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
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
Kawaguchi T et al.
Oncogene, 2005
Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.
Shiraishi K et al.
The Journal of Biological Chemistry, 2004
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