Associated Papers
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 2025
Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterations.
Chaki M et al.
Breast Cancer Research : Bcr, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
L'Erario FF et al.
Genes, 2025
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.
Schei-Andersen AJ et al.
Familial Cancer, 2025
Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.
Sharma D et al.
Molecular Biology Research Communications, 2025
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 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
Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.
Jitpasutham T et al.
Cancer Cytopathology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".
Kozman D et al.
The American Journal of Surgical Pathology, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.
Krop IE et al.
Jco Precision Oncology, 2022
Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition.
Simões MFE et al.
Current Oncology (toronto, Ont.), 2022
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.
Khoruddin NA et al.
Scientific Reports, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.
Smith IN et al.
Journal of Biomolecular Structure & Dynamics, 2019
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.
Khan I et al.
Biotechnology and Applied Biochemistry, 2017
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS et al.
Molecular Autism, 2017
Prediction and Analysis of Breast Cancer Related Deleterious Non-Synonymous Single Nucleotide Polymorphisms in the PTEN Gene.
Naidu CK et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2016
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.
Crucianelli F et al.
Epigenetics, 2014
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
George Priya Doss C et al.
Cell Biochemistry and Biophysics, 2013
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.
de Leon MP et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
Rodríguez-Escudero I et al.
Human Molecular Genetics, 2011
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
Andrés-Pons A et al.
Cancer Research, 2007
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
Lachlan KL et al.
Journal of Medical Genetics, 2007
Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ et al.
Human Molecular Genetics, 1999
Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
Tok Celebi J et al.
Experimental Dermatology, 1999
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Longy M et al.
Journal of Medical Genetics, 1998
Inherited macrocephaly-hamartoma syndromes.
DiLiberti JH
American Journal of Medical Genetics, 1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ et al.
Human Molecular Genetics, 1998
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Marsh DJ et al.
Nature Genetics, 1997