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
Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.
Park YH et al.
Scientific Reports, 2025
41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2
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
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.
Manea S et al.
Cancers, 2025
40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1
RET-AREAL: A multi-center, real-world data analysis on the efficacy of pralsetinib in acquired RET fusion after resistance to EGFR/ALK-TKIs.
Tang X et al.
Cancer Letters, 2025
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
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.
Rautajoki KJ et al.
Acta Neuropathologica Communications, 2023
37932833 (PubMed )
Supplement: 40478_2023_1669_MOESM1_ESM.xlsx › Table_S15
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM8_ESM.xlsx › Tabelle1
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
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants
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: tp53_variants_update_bbab524.docx
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1
Oligosarcomas, IDH-mutant are distinct and aggressive.
Suwala AK et al.
Acta Neuropathologica, 2022
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
Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.
Das S et al.
Communications Biology, 2021
34635775 (PubMed )
Supplement: 42003_2021_2683_MOESM4_ESM.xlsx › S_Data_3
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
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2c
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL et al.
Nature Communications, 2021
33637765 (PubMed )
Supplement: 41467_2021_21588_MOESM1_ESM.pdf
A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.
Lorenz J et al.
Acta Neuropathologica Communications, 2020
32758285 (PubMed )
Supplement: 40478_2020_1000_MOESM4_ESM.xlsx › Tabelle1
Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".
Sakaguchi M et al.
Brain Tumor Pathology, 2019
Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer.
Yoo SK et al.
Nature Communications, 2019
31235699 (PubMed )
Supplement: 41467_2019_10680_MOESM5_ESM.xlsx › Supplementary_Data_2
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
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Canine
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1
Immune checkpoint blockade resistance-related B2M hotspot mutations in microsatellite-unstable colorectal carcinoma.
Yeon Yeon S et al.
Pathology, Research and Practice, 2019
Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer.
Youssef O et al.
Anticancer Research, 2018
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Toh MR et al.
Jnci Cancer Spectrum, 2018
31360874 (PubMed )
Supplement: pky054_supp.docx
Genetic variants in IL15 promoter affect transcription activity and intramuscular fat deposition in longissimus dorsi muscle of pigs.
He D et al.
Animal Genetics, 2018
Presence of cancer-associated mutations in exhaled breath condensates of healthy individuals by next generation sequencing.
Youssef O et al.
Oncotarget, 2017
Genomic Alterations in Biliary Tract Cancer Using Targeted Sequencing.
Yoo KH et al.
Translational Oncology, 2016
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
Next-generation sequencing of tyrosine kinase inhibitor-resistant non-small-cell lung cancers in patients harboring epidermal growth factor-activating mutations.
Masago K et al.
Bmc Cancer, 2015
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.
Kumar CV et al.
Journal of Biomolecular Structure & Dynamics, 2015
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
24665023 (PubMed )
Supplement: supplement_1.pdf
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
Kawaguchi T et al.
Oncogene, 2005
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Saifi GM et al.
Human Mutation, 2005
Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.
Andrews LJ et al.
Neuro-oncology Advances, 0
38130901 (PubMed )
Supplement: vdad145_suppl_supplementary_data.xlsx › Individual_data
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