Associated Papers
[Clinical characterization and genetic analysis of two Chinese patients with Cowden syndrome due to variants of PTEN gene].
Yuan Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay.
Koukourakis MI et al.
Current Oncology (toronto, Ont.), 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer 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
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Characterization of the Genomic Landscape in Cervical Cancer by Next Generation Sequencing.
Qiu L et al.
Genes, 2022
Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.
Williams G et al.
Plos One, 2022
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
Aguilar M et al.
The Journal of Pathology, 2021
A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.
Luna S et al.
Human Mutation, 2021
Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.
Liu T et al.
Frontiers in Oncology, 2021
Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
Reijnen C et al.
International Journal of Cancer, 2020
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
Isik E et al.
Annals of Human Genetics, 2020
Combining ERBB family and MET inhibitors is an effective therapeutic strategy in cutaneous malignant melanoma independent of BRAF/NRAS mutation status.
Das I et al.
Cell Death & Disease, 2019
Concurrent Genetic Alterations Predict the Progression to Target Therapy in EGFR-Mutated Advanced NSCLC.
Kim Y et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2019
Efficacy of liquid-based genetic diagnosis of endometrial cancer.
Matsuura M et al.
Cancer Science, 2018
Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.
Deng Q et al.
Heliyon, 2018
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.
Li G et al.
Plos One, 2018
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
Li C et al.
Scientific Reports, 2015
Next-generation sequencing of salivary high-grade neuroendocrine carcinomas identifies alterations in RB1 and the mTOR pathway.
Goyal B et al.
Experimental and Molecular Pathology, 2014
Genetic alterations of PTEN in human melanoma.
Aguissa-Touré AH et al.
Cellular and Molecular Life Sciences : Cmls, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.
Harada N et al.
Journal of Gastroenterology, 2003
Hamartoma and lentiginosis syndromes: clinical and molecular aspects.
Marsh DJ et al.
Frontiers of Hormone Research, 2001
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ et al.
Human Molecular Genetics, 1999
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999
Germline PTEN mutations in Cowden syndrome-like families.
Marsh DJ et al.
Journal of Medical Genetics, 1998
Inherited macrocephaly-hamartoma syndromes.
DiLiberti JH
American Journal of Medical Genetics, 1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ et al.
Human Molecular Genetics, 1998