Liquid Biopsy-Based Detection Of PIK3CA Mutations From cfDNA Using An End-To-End Digital PCR Workflow

By Simon Hertlein, Annika Voets, Colin Donohoe, and Ellen Bruske, QIAGEN

PIK3CA is recognized as one of the most frequently mutated genes across a wide range of human cancers, which makes it a critical focus in the field of precision oncology. The presence of mutations in this gene often leads to the activation of abnormal signaling pathways that drive cancer progression. As a result, accurately identifying these mutations—whether from tissue biopsies or less invasive liquid biopsies—is essential for guiding targeted therapeutic strategies. In this context, we present comprehensive workflows, both manual and automated, designed to detect and precisely quantify ultra-rare PIK3CA variants in circulating cell-free DNA (cfDNA). These workflows leverage the advanced capabilities of the QIAcuity Digital PCR System to enable highly sensitive and specific mutation detection.

They include high-yield cfDNA extraction options such as the QIAamp MinElute Midi Kit and automated EZ2 or QIAsymphony platforms that eliminate the need for manual pre-enrichment. This integrated solution supports variant detection down to 0.1% VAF and offers multiplexing capabilities across up to five detection channels.

Explore how this approach supports clinicians and researchers in making informed decisions about personalized cancer treatment, particularly in cases where early detection and monitoring of minimal residual disease are crucial.