Detection of Bax Microsatellite Mutations and BaxΔ2 Isoform in Human Buccal Cells

Loss of the pro-apoptotic Bcl-2 family protein Bax occurs in ~50% of hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite instability (MSI). Recently, we found that some of the "Bax-negative" MSI tumor cells contain a functional Bax isoform, BaxΔ2, which sensitizes cells to selective chemotherapeutics. Here we show the detection of Bax microsatellite mutations and expression of BaxΔ2 proteins in human buccal cells. Our study provides a sensitive and non-invasive approach and a potential clinical application in diagnosis and treatment of MSI colon cancer patients.