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Phenotypic Characterization of a Comprehensive Set of MAPK1/ERK2 Missense Mutants.

Authors:
Lisa Brenan Aleksandr Andreev Ofir Cohen Sasha Pantel Atanas Kamburov Davide Cacchiarelli Nicole S Persky Cong Zhu Mukta Bagul Eva M Goetz Alex B Burgin Levi A Garraway Gad Getz Tarjei S Mikkelsen Federica Piccioni David E Root Cory M Johannessen

Cell Rep 2016 10;17(4):1171-1183

The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

Tumor-specific genomic information has the potential to guide therapeutic strategies and revolutionize patient treatment. Currently, this approach is limited by an abundance of disease-associated mutants whose biological functions and impacts on therapeutic response are uncharacterized. To begin to address this limitation, we functionally characterized nearly all (99.84%) missense mutants of MAPK1/ERK2, an essential effector of oncogenic RAS and RAF. Using this approach, we discovered rare gain- and loss-of-function ERK2 mutants found in human tumors, revealing that, in the context of this assay, mutational frequency alone cannot identify all functionally impactful mutants. Gain-of-function ERK2 mutants induced variable responses to RAF-, MEK-, and ERK-directed therapies, providing a reference for future treatment decisions. Tumor-associated mutations spatially clustered in two ERK2 effector-recruitment domains yet produced mutants with opposite phenotypes. This approach articulates an allele-characterization framework that can be scaled to meet the goals of genome-guided oncology.

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http://dx.doi.org/10.1016/j.celrep.2016.09.061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120861PMC
October 2016

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