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RESEARCH ARTICLE PIK3CA Mutations are Common in Many Tumor Types and are Often Associated With Other Driver Mutations Matthew D. Stachler, MD, PhD, Elizabeth M. Rinehart, MD, Elizabeth Garcia, PhD, and Neal I. Lindeman, MD he phosphoinositide 3-kinases have been known to have Objectives: Genotyping clinical cancer specimens determines a Toncogenic potential for close to 15 years. Since then, it fuller spectrum of mutations that an individual tumor harbors, has been shown that the p110a catalytic subunit (PIK3CA)is and thus provides better insight into its molecular pathogenesis. one of the most frequently mutated genes in cancer, having Using genotyping data collected during routine clinical care our been reported in B12% of all cancers in the Catalogue of objective was to better determine the genomic landscape asso- Somatic Mutations in Cancer (COSMIC) database. PIK3CA ciated with PIK3CA mutations since much interest has been is composed of multiple domains, all of which have been 3,4 placed on PIK3CA targeted therapy. associated with gain-of-function mutations. Most mutations occur in specific “hotspots” including amino acid E542 and Methods: We performed multiplexed tumor genotyping within E545 of the helical domain and H1047 in the kinase do- our CLIA-certified clinical laboratory on all consenting cancer
Applied Immunohistochemistry & Molecular Morphology – Wolters Kluwer Health
Published: Jun 1, 2015
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