Associated Papers
Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.
Huang CC et al.
Biomedical Reports, 2025
Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.
Nishiyama A et al.
Cancer Science, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
MacFarland SP et al.
American Journal of Medical Genetics. Part A, 2024
Evaluating ClinGen variant curation expert panels' application of PVS1 code.
Wang X et al.
European Journal of Medical Genetics, 2024
NKX3.1 Expression and Molecular Characterization of Secretory Myoepithelial Carcinoma (SMCA): Advancing the Case for a Salivary Mucous Acinar Phenotype.
Patel S et al.
Head and Neck Pathology, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 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
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 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
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Teramae S et al.
International Journal of Clinical Oncology, 2022
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 2021
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.
Innella G et al.
Frontiers in Medicine, 2021
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 2019
Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.
Ueda M et al.
Obstetrics and Gynecology International, 2019
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL et al.
European Journal of Human Genetics : Ejhg, 2018
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
A systematic review of genetic studies of thyroid disorders in Taiwan.
Huang CJ et al.
Journal of the Chinese Medical Association : Jcma, 2015
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V et al.
Journal of Medical Genetics, 2013
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Agrawal S et al.
Human Molecular Genetics, 2005
PTEN Deregulation Mechanisms in Salivary Gland Carcinomas.
Papanikolaou V et al.
Cancer Diagnosis & Prognosis, 0