Abstract
Colorectal cancer is the leading cause of cancer-related deaths worldwide. The disease is curable when detected at an early stage. However, the compliance rate with current screening recommendations remains poor. An accurate, minimally invasive blood test that has the potential for greater patient compliance would be a welcome addition to the current methods. Recent data have shown that gene expression profile of peripheral blood cells can reflect disease states and thus have diagnostic value. In this study, genome-wide gene expression profiling of peripheral blood cells from 20 healthy controls and 20 colorectal cancer patients were performed using PAXgene™ technology and Affymetrix GeneChip® microarrays. We identified a list of 1,469 genes that were differentially expressed between the healthy controls and cancer patients. Gene annotation and functional enrichment analysis revealed that those genes are mainly related to immune functions. Particularly, a set of genes belonging to the Toll-Like Receptor pathways were up-regulated in the colorectal cancer patients. These findings provide a new understanding of blood gene expression profile in colorectal cancer. Our result may serve as the basis for further development of blood biomarkers for the diagnosis and treatment of colorectal cancer.
Highlights
Colorectal cancer (CRC) is the third most common cancer in men and the second most common cancer in women worldwide
When an abnormality has been detected by the blood test, further tests involving colonoscopy and pathological examination would be recommended to confirm whether the detected abnormality is CRC
Differential Expressed Genes (DEGs) between the Control and CRC groups were identified with the Significance Analysis of Microarrays (SAM) analysis (FDR = 0.01; Type = ‘‘Two class unpaired’’; test statistic = ‘‘tstatistic’’; number of permutations = 1,000)
Summary
Colorectal cancer (CRC) is the third most common cancer in men and the second most common cancer in women worldwide. The compliance with current CRC screening recommendations remains poor. The low rate of participation in CRC screening is due to a number of factors, including low accuracy of current stool based screening methods, patient discomfort and poor acceptability for endoscopy based methods. We and others have previously showed the potential use of gene expression profiling of whole blood samples for cancer detection and diagnosis [3,4,5,6,7,8,9]. The activation of immune system is reflected in changes in gene expression profiles of immune competent blood cells, and these changes are detectable in peripheral blood [11,12]. We performed gene expression profiling of peripheral blood cells using PAXgeneTM technology and Affymetrix GeneChipH microarrays. We reported the overexpression profiles of Toll-Like Receptor (TLR) signaling pathways related genes in CRC to pave the way for further functional studies
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