Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.

ABSTRACT: Large-scale sequencing efforts are uncovering the complexity of cancer genomes, which are composed of causal "driver" mutations that promote tumor progression along with many more pathologically neutral "passenger" events. The majority of mutations, both in known cancer drivers and uncharacterized genes, are generally of low occurrence, highlighting the need to functionally annotate the long tail of infrequent mutations present in heterogeneous cancers. Here we describe a mutation assessment pipeline enabled by high-throughput engineering of molecularly barcoded gene variant expression clones identified by tumor sequencing. We first used this platform to functionally assess tail mutations observed in PIK3CA, which encodes the catalytic subunit alpha of the phosphatidylinositol-4,5-bisphosp

SUBMITTER: Dogruluk T 

PROVIDER: S-EPMC4681596 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature