Associated Papers
The Bi-steric, mTORC1-Selective Inhibitor, RMC-5552, in Advanced Solid Tumors: A Phase 1 Trial.
Schram AM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM et al.
Brain 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
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.
Newman H et al.
Clinical Genetics, 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
Mosaicism in PTEN-new case and comment on the literature.
Rofes P et al.
European Journal of Human Genetics : Ejhg, 2022
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
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
Molecular characterization of medulloblastomas with extensive nodularity (MBEN).
Korshunov A et al.
Acta Neuropathologica, 2018
PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.
Haddadi N et al.
Molecular Cancer, 2018
Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.
Pain M et al.
Oncotarget, 2018
EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.
Oldrini B et al.
Nature Communications, 2017
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
Loffeld A et al.
The British Journal of Dermatology, 2006
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
Smith JM et al.
Journal of Medical Genetics, 2002