Associated Papers
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_MOESM1_ESM.xlsx › Table_S1
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1
Cancer risk in carriers of TP53 germline variants grouped into different functional categories.
Müntnich LJ et al.
Jnci Cancer Spectrum, 2025
39873732 (PubMed )
Supplement: pkaf008_supplementary_data.zip › Supplementary_Table_2_R1.xlsx › Tabelle1
Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.
Filetti M et al.
Cancers, 2024
39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs
Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis.
Tan S et al.
Clinical Genetics, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6
Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.
de Bitter TJJ et al.
Npj Precision Oncology, 2022
36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3
Comparative Genomic Analysis Reveals Genetic Variations in Multiple Primary Esophageal Squamous Cell Carcinoma of Chinese Population.
Liang J et al.
Frontiers in Oncology, 2022
35515115 (PubMed )
Supplement: Table_3.xlsx › Sheet_1
Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.
Hoffmann K et al.
The Embo Journal, 2020
32009247 (PubMed )
Supplement: EMBJ-39-e104013-s006.xlsx › Table_EV4-Allelic_frequencies
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
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels
Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia.
Malcikova J et al.
Leukemia, 2015
25287991 (PubMed )
Supplement: leu2014297x1.pdf
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