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
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation
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
Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.
He M et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2025
40372586 (PubMed )
Supplement: 10120_2025_1621_MOESM2_ESM.xlsx › Table_S4
Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.
Chaubal R et al.
Breast Cancer Research and Treatment, 2025
40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM2_ESM.xlsx › stable7
Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.
Chan HT et al.
Clinical Chemistry, 2025
40320741 (PubMed )
Supplement: hvaf045_supplementary_data.zip › Supplementary_tables_revision4.pdf
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
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 2025
40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 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
Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.
Myszka A et al.
Journal of Clinical Medicine, 2024
39768623 (PubMed )
Supplement: jcm-13-07701-s001.zip › jcm-3330435-supplementary.xlsx › Variant_classification
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
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
Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.
Maloberti T et al.
Diagnostics (basel, Switzerland), 2024
38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM3_ESM.xlsx › Sheet1
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M et al.
The Oncologist, 2023
37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_2.xlsx › Sheet1
Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania.
Afrăsânie VA et al.
International Journal of Molecular Sciences, 2023
Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.
Garrote M et al.
Cancers, 2023
37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf
In-silico analysis of TCGA data showing multiple POLE-like favourable subgroups overlapping with TP53 mutated endometrial cancer: Implications for clinical practice in low and middle-income countries.
Das Ghosh D et al.
Gynecologic Oncology Reports, 2023
37293351 (PubMed )
Supplement: mmc2.xlsx › TP53
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
Multigene panel next generation sequencing in metastatic colorectal cancer in an Australian population.
Nindra U et al.
Plos One, 2023
37796807 (PubMed )
Supplement: pone.0292087.s001.xlsx › Sheet1
Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation.
Huang R et al.
Pharmacogenomics and Personalized Medicine, 2023
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
Molecular Biology and Therapeutic Perspectives for K-Ras Mutant Non-Small Cell Lung Cancers.
Cekani E et al.
Cancers, 2022
Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
Russell-Goldman E et al.
The American Journal of Dermatopathology, 2022
Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.
Scheiter A et al.
Journal of Personalized Medicine, 2022
36013219 (PubMed )
Supplement: jpm-12-01270-s001.zip › jpm-1799777-supplementary.pdf
Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition.
Jungwirth J et al.
Scientific Reports, 2022
Sclerosing Polycystic Adenoma of Salivary Glands: A Novel Neoplasm Characterized by PI3K-AKT Pathway Alterations-New Insights Into a Challenging Entity.
Skálová A et al.
The American Journal of Surgical Pathology, 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
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
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
Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.
Xu C et al.
Bmc Medical Genomics, 2020
33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.
de Biase D et al.
Diagnostics (basel, Switzerland), 2020
32340363 (PubMed )
Supplement: diagnostics-10-00250-s001.pdf
Glucose and glutamine metabolism in relation to mutational status in NSCLC histological subtypes.
Meijer TWH et al.
Thoracic Cancer, 2019
31668020 (PubMed )
Supplement: TCA-10-2289-s002.xlsx › Blad1
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Liao Y et al.
Cancer Medicine, 2019
31369215 (PubMed )
Supplement: CAM4-8-5673-s008.xlsx › Supplementary_Table_S5
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
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
Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.
Singhi AD et al.
Gut, 2018
28970292 (PubMed )
Supplement: gutjnl-2016-313586supp002.pdf
Mutational processes shape the landscape of TP53 mutations in human cancer.
Giacomelli AO et al.
Nature Genetics, 2018
30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement
Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile.
Richetta AG et al.
Oncotarget, 2018
Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.
Wilson GD et al.
Oncotarget, 2018
29899834 (PubMed )
Supplement: oncotarget-09-25957-s003.xlsx › ST2_GeneVar_Mets
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