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
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
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
40373350 (PubMed )
Supplement: mmc4.xlsx › 4c_Correctly_classified
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
Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.
Wang TY et al.
Molecular Cytogenetics, 2025
40069757 (PubMed )
Supplement: 13039_2025_708_MOESM1_ESM.pdf
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
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_S18
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
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
DNA Sequencing of CD138 Cell Population Reveals TP53 and RAS-MAPK Mutations in Multiple Myeloma at Diagnosis.
Dragomir M et al.
Cancers, 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
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732181 (PubMed )
Supplement: media-2.xlsx › 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 › BVs
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
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53
Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs.
Abe S et al.
Cancers, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3
Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.
Sperling AS et al.
Blood, 2022
35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.pdf
Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.
Nian R et al.
International Journal of Oncology, 2022
35796015 (PubMed )
Supplement: Supplementary_Data6.xlsx › Sheet1
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
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
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
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.
Nemtsova MV et al.
Scientific Reports, 2020
31949278 (PubMed )
Supplement: 41598_2020_57544_MOESM1_ESM.docx
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
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
Jayasinghe RG et al.
Cell Reports, 2018
29617666 (PubMed )
Supplement: NIHMS958979-supplement-2.xlsx › All_Calls
Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.
Krøigård AB et al.
Plos One, 2018
29293529 (PubMed )
Supplement: pone.0189887.s005.xlsx › Ark1
Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.
Yin X et al.
Cancer Research, 2017
28972072 (PubMed )
Supplement: 00085472can171461-sup-183444_3_supp_4263540_vw5qwj.xlsx › S4
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Kong SL et al.
Oncotarget, 2017
28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5
Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.
Kim SY et al.
Oncotarget, 2015
25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S6.xlsx › Supp_Table_6b
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