Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Determinants of long-term response to patritumab deruxtecan in breast cancer patient-derived xenografts.
Òdena A et al.
Npj Precision Oncology, 2025
Small cell carcinoma with rhabdomyosarcomatous differentiation of the urinary bladder: an integrated clinicopathological and molecular characterization of five cases.
Zhao M et al.
Virchows Archiv : an International Journal of Pathology, 2025
Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.
Dhotare PS et al.
Bmc Cancer, 2025
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
Machine Learning and Structural Dynamics-Based Approach to Reveal Molecular Mechanism of PTEN Missense Mutations Shared by Cancer and Autism Spectrum Disorder.
Yang M et al.
Journal of Chemical Information and Modeling, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
DeSpenza T et al.
Nature Neuroscience, 2025
Decoding Mechanisms of PTEN Missense Mutations in Cancer and Autism Spectrum Disorder using Interpretable Machine Learning Approaches.
Yang M et al.
Biorxiv : the Preprint Server for Biology, 2025
Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.
Sharma D et al.
Molecular Biology Research Communications, 2025
Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.
Hirose T et al.
Npj Breast Cancer, 2024
Multi-omics and pharmacological characterization of patient-derived glioma cell lines.
Wu M et al.
Nature Communications, 2024
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
Similar genetic profile in early and late stage urothelial tract cancer.
Stormoen DR et al.
Journal of Cancer Research and Clinical Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.
Tögel L et al.
Cancers, 2023
Cancer and Autism: How PTEN Mutations Degrade Function at the Membrane and Isoform Expression in the Human Brain.
Jang H et al.
Journal of Molecular Biology, 2023
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.
Szegedi K et al.
Journal of Clinical Medicine, 2023
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
How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brain.
Jang H et al.
Biorxiv : the Preprint Server for Biology, 2023
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Sivakumar S et al.
Nature Communications, 2022
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
PTEN Regulates Dendritic Arborization by Decreasing Microtubule Polymerization Rate.
Getz SA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.
Wang XY et al.
Theranostics, 2022
Characterizing Variants of Unknown Significance of the PTEN tumour suppressorHomolog DAF-18.
Ermakova G et al.
Micropublication Biology, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.
Matreyek KA et al.
Genome Medicine, 2021
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
Reciprocal control of translation and transcription in autism spectrum disorder.
Longo F et al.
Embo Reports, 2021
Identification of a targetable KRAS-mutant epithelial population in non-small cell lung cancer.
Maroni G et al.
Communications Biology, 2021
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.
Moreno T et al.
Oncogene, 2021
Standardization of pleural effusion-based tumor mutation burden (TMB) estimation using capture-based targeted sequencing.
Yu Y et al.
Annals of Translational Medicine, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.
Elliott E et al.
Cancer Reports (hoboken, N.j.), 2020
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.
Wong CW et al.
The Febs Journal, 2020