Mouse Models for Exploring the Biological Consequences and Clinical Significance of PIK3CA Mutations

Camilla B Mitchell; Wayne A Phillips

doi:10.3390/biom9040158

Mouse Models for Exploring the Biological Consequences and Clinical Significance of PIK3CA Mutations

Biomolecules. 2019 Apr 23;9(4):158. doi: 10.3390/biom9040158.

Authors

Camilla B Mitchell¹, Wayne A Phillips^{2

3}

Affiliations

¹ Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia. camilla.mitchell@petermac.org.
² Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia. wayne.phillips@petermac.org.
³ Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia. wayne.phillips@petermac.org.

Abstract

The phosphatidylinositol 3-kinase (PI3K) pathway is involved in a myriad of cellular signalling pathways that regulate cell growth, metabolism, proliferation and survival. As a result, alterations in the PI3K pathway are frequently associated with human cancers. Indeed, PIK3CA-the gene encoding the p110α catalytic subunit of PI3K-is one of the most commonly mutated human oncogenes. PIK3CA mutations have also been implicated in non-malignant conditions including congenital overgrowth syndromes and vascular malformations. In order to study the role of PIK3CA mutations in driving tumorigenesis and tissue overgrowth and to test potential therapeutic interventions for these conditions, model systems are essential. In this review we discuss the various mouse models currently available for preclinical studies into the biological consequences and clinical significance of PIK3CA mutations.

Keywords: PI 3-kinase; PI3K; PIK3CA; PROS; cancer; knock-in; mouse model; overgrowth; transgenic.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Disease Models, Animal*
Gene Targeting / methods
Mice
Mutation*
Neoplasms / genetics*
Neoplasms / pathology
Phenotype
Phosphatidylinositol 3-Kinases / genetics*
Phosphatidylinositol 3-Kinases / metabolism