Abstract
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.
Highlights
Loss of the pro-apoptotic Bcl-2 family protein Bax occurs in ~50% of hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite instability (MSI)
We investigated a microsatellite mutation of tumor suppressor Bax gene in cheek cells
We found that some “Baxnegative” MSI tumor cells contain a functional Bax isoform, BaxΔ2, which is generated when a unique alternative splicing “salvages” the microsatellite frameshift mutation [6]
Summary
Loss of the pro-apoptotic Bcl-2 family protein Bax occurs in ~50% of hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite instability (MSI). Keywords Cheek cells; buccal cells; microsatellite mutation; microsatellite instability; Bax; BaxΔ2; chemotherapy Over 90% of hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) patients have high microsatellite instability (MSI-H) [1,2]. We investigated a microsatellite mutation of tumor suppressor Bax gene in cheek cells.
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