Accurate detection of low prevalence AKT1 E17K mutation in tissue or plasma from advanced cancer patients.

ABSTRACT: Personalized healthcare relies on accurate companion diagnostic assays that enable the most appropriate treatment decision for cancer patients. Extensive assay validation prior to use in a clinical setting is essential for providing a reliable test result. This poses a challenge for low prevalence mutations with limited availability of appropriate clinical samples harboring the mutation. To enable prospective screening for the low prevalence AKT1 E17K mutation, we have developed and validated a competitive allele-specific TaqMan® PCR (castPCR™) assay for mutation detection in formalin-fixed paraffin-embedded (FFPE) tumor tissue. Analysis parameters of the castPCR™ assay were established using an FFPE DNA reference standard and its analytical performance was assessed using 338 breast cancer

SUBMITTER: de Bruin EC 

PROVIDER: S-EPMC5417426 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature