Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.
Sharma D et al.
Molecular Biology Research Communications, 2025
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
Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study.
Mansilla-Polo M et al.
Clinical and Experimental Dermatology, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic 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
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
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
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
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
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Machine Learning Classification and Structure-Functional Analysis of Cancer Mutations Reveal Unique Dynamic and Network Signatures of Driver Sites in Oncogenes and Tumor Suppressor Genes.
Agajanian S et al.
Journal of Chemical Information and Modeling, 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
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
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.
Gil A et al.
Plos One, 2015
Mitochondrial DNA genotyping efficiently reveals clonality of synchronous endometrial and ovarian cancers.
Guerra F et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
Rodríguez-Escudero I et al.
Human Molecular Genetics, 2011
A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
Tate G et al.
Cancer Genetics and Cytogenetics, 2008
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