Associated Papers
Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.
Tagore S et al.
Nature Genetics, 2026
Overlap MCAP-CLAPO syndrome associated with malignant ovarian tumor in a 11 year old girl.
Cerro Rodríguez DD et al.
Jaad Case Reports, 2026
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.
Sandbothe M et al.
Virchows Archiv : an International Journal of Pathology, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.
Cokpinar S et al.
Journal of Clinical Medicine, 2024
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Determination of the frequency and distribution of APC, PIK3CA, and SMAD4 gene mutations in Ugandan patients with colorectal cancer.
Wismayer R et al.
Bmc Cancer, 2024
Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.
Chen H et al.
Molecular Genetics and Genomics : Mgg, 2024
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.
Tagore S et al.
Biorxiv : the Preprint Server for Biology, 2023
Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis.
Tan S et al.
Clinical Genetics, 2023
Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.
Tamura R et al.
Cancer Science, 2023
Biology and Targetability of the Extended Spectrum of PIK3CA Mutations Detected in Breast Carcinoma.
Rugo HS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
Profiling PIK3CA variants in disorders of somatic mosaicism.
Mojarad BA et al.
Genetics in Medicine Open, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.
Jiménez-Rodríguez B et al.
International Journal of Molecular Sciences, 2022
Clinical and genetic analyses of patients with lateralized overgrowth.
Kim YM et al.
Bmc Medical Genomics, 2022
Therapeutic implications of activating noncanonical PIK3CA mutations in head and neck squamous cell carcinoma.
Jin N et al.
The Journal of Clinical Investigation, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.
Riedlinger GM et al.
Breast Cancer Research : Bcr, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Identifying predictors of HPV-related head and neck squamous cell carcinoma progression and survival through patient-derived models.
Facompre ND et al.
International Journal of Cancer, 2020
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
Landscape and function of multiple mutations within individual oncogenes.
Saito Y et al.
Nature, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Genomic Alterations as Potential Therapeutic Targets in Extramammary Paget's Disease of the Vulva.
Stasenko M et al.
Jco Precision Oncology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Mithraprabhu S et al.
Cancers, 2019
Development of Personalized Therapeutic Strategies by Targeting Actionable Vulnerabilities in Metastatic and Chemotherapy-Resistant Breast Cancer PDXs.
Punzi S et al.
Cells, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.
Kaur P et al.
Scientific Reports, 2019
Everolimus in Anaplastic Thyroid Cancer: A Case Series.
Harris EJ et al.
Frontiers in Oncology, 2019
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
PIK3CA and MAP3K1 alterations imply luminal A status and are associated with clinical benefit from pan-PI3K inhibitor buparlisib and letrozole in ER+ metastatic breast cancer.
Nixon MJ et al.
Npj Breast Cancer, 2019
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
Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.
Chen L et al.
Nature Communications, 2018