Associated Papers
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.
Tian S et al.
Genomics, Proteomics & Bioinformatics, 2025
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 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
Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.
Harms PW et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.
Reder H et al.
Cancer Medicine, 2021
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.
Colombino M et al.
Journal of Clinical Medicine, 2019
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
First-in human, phase 1, dose-escalation pharmacokinetic and pharmacodynamic study of the oral dual PI3K and mTORC1/2 inhibitor PQR309 in patients with advanced solid tumors (SAKK 67/13).
Wicki A et al.
European Journal of Cancer (oxford, England : 1990), 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.
Dallol A et al.
Journal of Translational Medicine, 2016
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Hamartomatous polyposis syndromes.
Calva D et al.
The Surgical Clinics of North America, 2008
Germline PTEN mutations are rare and highly penetrant.
Rustad CF et al.
Hereditary Cancer in Clinical Practice, 2006
Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
Zhou XP et al.
American Journal of Human Genetics, 2003
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.
Kurose K et al.
Nature Genetics, 2002
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
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
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
Lynch ED et al.
American Journal of Human Genetics, 1997
The Value of Detecting and Monitoring ctDNA in Uveal Melanoma: Results of a Pilot Study and a Systematic Review.
Azimi F et al.
Case Reports in Ophthalmology, 0