Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

2012/05/31 by Kyle C. Kurek, Kyle C. Kurek, Valerie L. Luks +19 · 29 citations
Medicine · #Vascular Malformations and Hemangiomas #Tumors and Oncological Cases #Cancer and Skin Lesions

paper · pdf · doi:10.1016/j.ajhg.2012.05.006

Cited by

• Mosaicism in Cutaneous Disorders
• Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
• A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures
• Vascular malformations: from genetics to therapeutics
• Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. [europepmc]
• Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. [europepmc]
• Somatic mutation, genomic variation, and neurological disease. [europepmc]
• Classes of phosphoinositide 3-kinases at a glance. [europepmc]
• Genetics of lymphatic anomalies. [europepmc]
• Malformations of cortical development: clinical features and genetic causes. [europepmc]
• Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. [europepmc]
• The diverse genetic landscape of neurodevelopmental disorders. [europepmc]
• PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting. [europepmc]
• PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. [europepmc]
• Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. [europepmc]
• Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. [europepmc]
• Somatic mosaicism: implications for disease and transmission genetics. [europepmc]
• Somatic PIK3CA mutations as a driver of sporadic venous malformations. [europepmc]
• Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. [europepmc]
• PIK3CA -associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. [europepmc]
• Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. [europepmc]
• New insights into the generation and role of de novo mutations in health and disease. [europepmc]
• Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. [europepmc]
• Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. [europepmc]
• The PI3K Pathway in Human Disease. [europepmc]
• Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. [europepmc]
• Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. [europepmc]
• Targeted therapy in patients with PIK3CA-related overgrowth syndrome. [europepmc]
• Challenges for the Clinical Development of PI3K Inhibitors: Strategies to Improve Their Impact in Solid Tumors. [europepmc]