Associated Papers
Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.
Plitt G et al.
Surgery, 2026
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.
Dakal TC et al.
Neuroscience, 2025
Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.
Szeto S et al.
Cancer Medicine, 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
Divergent PTEN-p53 interaction upon DNA damage in a human thyroid organoid model with germline PTEN mutations.
Venegas JA et al.
Endocrine-related Cancer, 2025
Papillary Tumor of the Pineal Region Identified by DNA Methylation Leads to the Incidental Finding of Germline Mutation PTEN G132D Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Systematic Review.
O'Neal N et al.
Current Oncology (toronto, Ont.), 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
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.
Plitt G et al.
Cancer Research, 2024
Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.
Zabeida A et al.
Pediatric Blood & Cancer, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Kang SC et al.
Molecular Psychiatry, 2024
The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.
Shirai Y et al.
Journal of Neuro-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
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
Differential cell cycle checkpoint evasion by PTEN germline mutations associated with dichotomous phenotypes of cancer versus autism spectrum disorder.
Hitomi M et al.
Oncogene, 2023
Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.
Kim M et al.
Pathology, Research and Practice, 2023
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E et al.
Pediatric Neurology, 2023
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Fountzilas E et al.
International Journal of Molecular Sciences, 2023
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 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
Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer.
Smith IN et al.
The Journal of Physical Chemistry. B, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 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
Concurrent Waldenstrom's Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation.
DeRosa PA et al.
Current Oncology (toronto, Ont.), 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
Manshaei R et al.
Bmc Medical Genomics, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.
Sun D et al.
Frontiers in Oncology, 2022
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
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.
Khoruddin NA et al.
Scientific Reports, 2021
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis.
Alunni-Fabbroni M et al.
Cancers, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
Polaczek R et al.
Journal of Ovarian Research, 2020
Significance of P16INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma.
DE Jesus Oliveira Kato V et al.
Anticancer Research, 2020