DETECTING MUTATED GENE SEQUENCES BY MUTANT-ENRICHED SEQUENCING

摘要

The present invention demonstrates novel mutant-enriched sequencing methods developed specifically for the three hot-spot mutations (H 1047R, E545K and E452K) of PIK3CA can be used to detect mutations missed by conventional sequencing method. The novel mutant- enriched sequencing methods allow detection of the PIK3CA hot-spot mutations in clinical specimens which often contain limited tumor tissues. The data further support oncogenicPIK3CA may play a critical role in pharyngeal carcinogenesis, and the abilities to detect PIK3CA mutations with enhanced sensitivities have great potential impacts on target therapies for many cancer types (e.g. breast cancer, colorectal cancer).