Associated Papers
Unraveling the Molecular Basis of Extracranial Glioblastoma Metastasis: A Case Report and Literature Review.
Manzano-Benito I et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Small cell carcinoma with rhabdomyosarcomatous differentiation of the urinary bladder: an integrated clinicopathological and molecular characterization of five cases.
Zhao M et al.
Virchows Archiv : an International Journal of Pathology, 2025
Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.
Farouk Sait S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 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
Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.
Richman J et al.
Breast Cancer Research and Treatment, 2024
Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.
Kwon S et al.
Scientific Reports, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 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
Defining triple-negative breast cancer with neuroendocrine differentiation (TNBC-NED).
Hacking SM et al.
The Journal of Pathology. Clinical Research, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
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
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L et al.
Orphanet Journal of Rare Diseases, 2022
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.
Maines E et al.
Hormones (athens, Greece), 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.
Jin R et al.
Frontiers in Oncology, 2021
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Čerina D et al.
Pathology Oncology Research : Por, 2021
The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 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
Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.
Li H et al.
Frontiers in Oncology, 2020
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
ClinVar: improving access to variant interpretations and supporting evidence.
Landrum MJ et al.
Nucleic Acids Research, 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
Hobnail variant of papillary thyroid carcinoma: molecular profiling and comparison to classical papillary thyroid carcinoma, poorly differentiated thyroid carcinoma and anaplastic thyroid carcinoma.
Teng L et al.
Oncotarget, 2017
Mutation of genes of the PI3K/AKT pathway in breast cancer supports their potential importance as biomarker for breast cancer aggressiveness.
Tserga A et al.
Virchows Archiv : an International Journal of Pathology, 2016
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
Loss of heterozygosity: what is it good for?
Ryland GL et al.
Bmc Medical Genomics, 2015
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
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
Tekin M et al.
American Journal of Medical Genetics. Part A, 2006
Mutational analysis of the PTEN gene in gliomas: molecular and pathological correlations.
Zhou XP et al.
International Journal of Cancer, 1999