Associated Papers
Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.
Tagore S et al.
Nature Genetics, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 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
PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.
Acikgoz NB et al.
Molecular Syndromology, 2025
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Mutational Landscapes of Normal Skin and Their Potential Implications in the Development of Skin Cancer: A Comprehensive Narrative Review.
Riew TR et al.
Journal of Clinical Medicine, 2024
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
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
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
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Chang D et al.
Npj Genomic Medicine, 2021
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.
Moukarzel LA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A et al.
Clinical Genetics, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
The effect of age on the acquisition and selection of cancer driver mutations in sun-exposed normal skin.
Hernando B et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2021
Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.
Ju Y et al.
Frontiers in Genetics, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 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
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
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
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
Yang Q et al.
Neoplasia (new York, N.y.), 2020
The mutational landscape of normal human endometrial epithelium.
Moore L et al.
Nature, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change.
Tsai KK et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.
Yamaura T et al.
Oncotarget, 2018
Class I Phosphoinositide 3-Kinase PIK3CA/p110α and PIK3CB/p110β Isoforms in Endometrial Cancer.
Mazloumi Gavgani F et al.
International Journal of Molecular Sciences, 2018
Comprehensive Characterization of Cancer Driver Genes and Mutations.
Bailey MH et al.
Cell, 2018
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
Siegel DH et al.
The Journal of Investigative Dermatology, 2018
Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.
Zilberg C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
Evaluation of 122 advanced-stage cutaneous squamous cell carcinomas by comprehensive genomic profiling opens the door for new routes to targeted therapies.
Al-Rohil RN et al.
Cancer, 2016
UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.
Wong SQ et al.
Cancer Research, 2015
Genomic analysis of metastatic cutaneous squamous cell carcinoma.
Li YY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015
Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.
Beaufort CM et al.
Plos One, 2014
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013