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Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

Madsen, RR; Vanhaesebroeck, B; Semple, RK; (2018) Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends in Molecular Medicine , 24 (10) 10.1016/j.molmed.2018.08.003. Green open access

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Abstract

PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are also found in benign overgrowth syndromes, collectively known as PIK3CA-related overgrowth spectrum (PROS). As in cancer, PIK3CA mutations in PROS arise postzygotically, but unlike in cancer, these mutations arise during embryonic development, with their timing and location critically influencing the resulting disease phenotype. Recent evidence indicates that phosphoinositide 3-kinase (PI3K) pathway inhibitors undergoing trials in cancer can provide a therapy for PROS. Conversely, PROS highlights gaps in our understanding of PI3K's role during embryogenesis and in cancer development. Here, we summarize current knowledge of PROS, evaluate challenges and strategies for disease modeling, and consider the implications of PROS as a paradigm for understanding activating PIK3CA mutations in human development and cancer.

Type: Article
Title: Cancer-Associated PIK3CA Mutations in Overgrowth Disorders
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.molmed.2018.08.003
Publisher version: https://doi.org/10.1016/j.molmed.2018.08.003
Language: English
Additional information: Copyright © 2018 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: PI3K, PIK3CA, cancer, overgrowth syndromes
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
URI: https://discovery.ucl.ac.uk/id/eprint/10056998
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