Nichita, C. Ciarloni, Laura Monnier-Benoit, S. Hosseinian, S. Dorta, Gian Rüegg, Curzio 2014 Background: Early detection and treatment of colorectal adenomatous polyps (AP) and colorectal cancer (CRC) is associated with decreased mortality for CRC. However, accurate, non-invasive and compliant tests to screen for AP and early stages of CRC are not yet available. A blood-based screening test is highly attractive due to limited invasiveness and high acceptance rate among patients.Aim: To demonstrate whether gene expression signatures in the peripheral blood mononuclear cells (PBMC) were able to detect the presence of AP and early stages CRC.Methods: A total of 85 PBMC samples derived from colonoscopy-verified subjects without lesion (controls) (n = 41), with AP (n = 21) or with CRC (n = 23) were used as training sets. A 42-gene panel for CRC and AP discrimination, including genes identified by Digital Gene Expression-tag profiling of PBMC, and genes previously characterised and reported in the literature, was validated on the training set by qPCR. Logistic regression analysis followed by bootstrap validation determined CRC- and AP-specific classifiers, which discriminate patients with CRC and AP from controls.Results: The CRC and AP classifiers were able to detect CRC with a sensitivity of 78% and AP with a sensitivity of 46% respectively. Both classifiers had a specificity of 92% with very low false-positive detection when applied on subjects with inflammatory bowel disease (n = 23) or tumours other than CRC (n = 14).Conclusion: This pilot study demonstrates the potential of developing a minimally invasive, accurate test to screen patients at average risk for colorectal cancer, based on gene expression analysis of peripheral blood mononuclear cells obtained from a simple blood sample. application/pdf https://folia.unifr.ch/global/documents/303396 https://folia.unifr.ch/documents/303396/files/rue_nge.pdf eng info:eu-repo/semantics/altIdentifier/doi/10.1111/apt.12618 info:eu-repo/semantics/openAccess License undefined Alimentary Pharmacology & Therapeutics. - 2014, vol. 39, no. 5, p. 507–517 info:eu-repo/classification/udc/57 A novel gene expression signature in peripheral blood mononuclear cells for early detection of colorectal cancer http://purl.org/coar/resource_type/c_6501