Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
[Characterization of PIK3CA/AKT1/PTEN gene mutations in hormone receptor- positive/HER2-negative breast cancer].
Liu ML et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 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
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Biorxiv : the Preprint Server for Biology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.
Alcaniz J et al.
Frontiers in 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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 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
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD et al.
Annals of Neurology, 2020
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos Medicine, 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
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Chen HH et al.
The Journal of Allergy and Clinical Immunology, 2017
Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome.
Anderson B et al.
Acg Case Reports Journal, 2017
Controlling PTEN (Phosphatase and Tensin Homolog) Stability: A DOMINANT ROLE FOR LYSINE 66.
Gupta A et al.
The Journal of Biological Chemistry, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
Ngeow J et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014
Genetic alterations of PTEN in human melanoma.
Aguissa-Touré AH et al.
Cellular and Molecular Life Sciences : Cmls, 2012
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.
Kurek KC et al.
The American Journal of Surgical Pathology, 2012
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
Tan WH et al.
Journal of Medical Genetics, 2007