Associated Papers
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
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
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.
Fortuno C et al.
Hgg Advances, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.
Danishevich A et al.
Hereditary Cancer in Clinical Practice, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
p53 as a Potential Actionable Target in Myxofibrosarcoma: A Molecular and Pathologic Review of a Single-Institute Series.
Laranga R et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024
Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.
Boruah N et al.
Biorxiv : the Preprint Server for Biology, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay.
Koukourakis MI et al.
Current Oncology (toronto, Ont.), 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.
Jin Y et al.
Journal of Oncology, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
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
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.
Fernández-Mateos J et al.
Scientific Reports, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM et al.
Plos One, 2017
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.
Harvey NT et al.
Pathology, 2016
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset.
Berg M et al.
Plos One, 2010
LKB1 mutations are extremely rare in Korean non-small cell lung cancers.
Kim MJ et al.
Cancer Genetics and Cytogenetics, 2010
Analysis of p53 and Bak gene mutations in lymphoproliferative disorders developing in rheumatoid arthritis.
Xu JX et al.
Journal of Cancer Research and Clinical Oncology, 2007