Biomarkers correlate with colon cancer and risks: a preliminary study

Abstract

Purpose: We previously reported that gene expression analysis of biopsies of normal-appearing large intestinal mucosa can distinguish individuals with colonic cancer and many individuals at risk for colon cancer from controls. The purpose of this study was to determine whether noninvasively removed rectal swabs can identify individuals with colon cancer or risk of colon cancer as effectively as we previously demonstrated using biopsies.

Methods: Rectal mucosa cells were removed by rectal swabs, and their gene expression profiles were compared with those of biopsies removed by colonoscopy. Expression of 16 genes in the rectal mucosa of 12 individuals with colon cancer, 25 with polyps, 37 with family or self-reported cancer history, and 23 controls was measured by real-time reverse transcription-polymerase chain reaction.

Results: We found similar results using rectal swabs and biopsies. Groups of individuals with or at risk for cancer showed an altered gene expression profile compared with controls. Moreover, each of the 12 cancer patients showed altered expression relative to the mean of controls.

Conclusions: Gene expression analysis using rectal swabs may provide a convenient way to screen for colon cancer.