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
Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.
de Bitter TJJ et al.
Scientific Reports, 2025
40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_3
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.
Canson DM et al.
Npj Genomic Medicine, 2025
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Galante PAF et al.
Lancet Regional Health. Americas, 2025
39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2024
39062807 (PubMed )
Supplement: ijms-25-07564-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S3
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
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
Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.
Alba-Pavón P et al.
Cancers, 2022
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
33692861 (PubMed )
Supplement: Supplementary_Data.pdf
Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.
Faldoni FLC et al.
Cancers, 2020
33007869 (PubMed )
Supplement: cancers-12-02816-s001.zip › Table_S10.xlsx › Table_S10
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_2.xlsx › S_Table2._IARC_Database__R19
Intratumor heterogeneity comparison among different subtypes of non-small-cell lung cancer through multi-region tissue and matched ctDNA sequencing.
Zhang Y et al.
Molecular Cancer, 2019
30626401 (PubMed )
Supplement: 12943_2019_939_MOESM10_ESM.xlsx › Dataset_5
Lorlatinib in non-small-cell lung cancer with ALK or ROS1 rearrangement: an international, multicentre, open-label, single-arm first-in-man phase 1 trial.
Shaw AT et al.
The Lancet. Oncology, 2017
29074098 (PubMed )
Supplement: NIHMS930149-supplement.pdf
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.
Wong SQ et al.
British Journal of Cancer, 2015
25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3
High resolution melting for mutation scanning of TP53 exons 5-8.
Krypuy M et al.
Bmc Cancer, 2007
Splice mutations in the p53 gene: case report and review of the literature.
Holmila R et al.
Human Mutation, 2003
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