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
Exon-level TP53 alterations and PD-L1 expression identified by pretreatment NGS stratify survival in EGFR-mutant non-small cell lung cancer treated with first-line osimertinib.
Kim SE et al.
Translational Lung Cancer Research, 2025
41510380 (PubMed )
Supplement: tlcr-14-12-5283-supplementary.pdf
The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas.
Hellberg M et al.
Genes, Chromosomes & Cancer, 2025
41432308 (PubMed )
Supplement: GCC-64-e70102-s003.xlsx › Summary
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral
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
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3
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
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
Performance and considerations in the use of diagnostic mutation panels for clonality testing in non-small-cell lung carcinoma.
Janssen J et al.
Esmo Open, 2025
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 2025
40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d
The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.
Mahmoud AA et al.
Plos One, 2025
40333905 (PubMed )
Supplement: pone.0307859.s001.xlsx › Sheet10
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
40519936 (PubMed )
Supplement: Table1.xlsx › SNV
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
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV
Evaluation of Combined Chemotherapy and Genomic-Driven Targeted Therapy in Patient-Derived Xenografts Identifies New Therapeutic Approaches in Squamous Non-Small-Cell Lung Cancer Patients.
Decaudin D et al.
Cancers, 2024
39199558 (PubMed )
Supplement: cancers-16-02785-s001.zip › cancers-3122851-supplementary.pdf
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
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
Evolutionary mode and timing of dissemination of high-grade serous carcinomas.
Sveen A et al.
Jci Insight, 2024
38175731 (PubMed )
Supplement: jciinsight-9-170423-s041.xlsx › Table_S3
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1
Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.
Dolgalev I et al.
Nature Communications, 2023
37938580 (PubMed )
Supplement: 41467_2023_42327_MOESM7_ESM.xlsx › snvs
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_S4
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.
Lazarian G et al.
Human Mutation, 2023
40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3
Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.
Serna-Blasco R et al.
Cancers, 2022
36139605 (PubMed )
Supplement: cancers-14-04446-s001.zip › Supplemental_data_S4.xlsx › variants_datasheet
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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM8_ESM.xlsx › Foglio1
BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.
Roohollahi K et al.
Scientific Reports, 2022
34997070 (PubMed )
Supplement: 41598_2021_4042_MOESM2_ESM.xlsx › Supp.File.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
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