Blood-derived molecular signatures as biomarker panels for the early detection of colorectal cancer
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REVIEW
Blood-derived molecular signatures as biomarker panels for the early detection of colorectal cancer Xia Gan1,2 · Ting Wang1 · Zhi‑Yong Chen1 · Kun‑He Zhang1 Received: 4 March 2020 / Accepted: 10 September 2020 © Springer Nature B.V. 2020
Abstract Colorectal cancer (CRC) is one of the leading causes of tumor morbidity and mortality worldwide. Endoscopy is currently the main screening method, but the invasiveness and high cost hamper the application of endoscopy in asymptomatic patients with a risk of CRC and lead to a low diagnostic rate for early CRC. In recent years, the progress of transcriptomics, epigenetics, immunomics and metabolomics has greatly contributed to the identification of novel molecular markers for the noninvasive screening of CRC, and many molecules in various biological processes have been identified and evaluated for CRC detection. However, individual molecules always have insufficient diagnostic performance as biomarkers for the detection of CRC; therefore, a frequent strategy to overcome this deficiency is the use of molecule signatures as biomarker panels to improve the diagnostic power. Here, we reviewed the diagnostic performance of blood-derived molecular signatures (mRNAs, microRNAs, autoantibodies, and metabolites) as biomarker panels for CRC detection, particularly for early detection, and discussed their limitations and prospects. Keywords Molecular signature · Biomarker panel · Colorectal cancer · Early diagnosis
Introduction Colorectal cancer (CRC) is the third most frequent malignancy and the fourth leading cause of cancer death worldwide, and it is estimated that 1,096,601 new CRC cases and 551,269 deaths occurred in 2018 [1]. When diagnosed at an early stage, CRC has a good response to treatment and a high survival rate, but the prognosis of advanced CRC is poor [2]. The disease evolution from premalignant lesions, such as adenomatous polyps (AP), to CRC involves a long asymptomatic course, which provides an opportunity for screening CRC in asymptomatic individuals with an average risk. The endoscopic approach and guaiac fecal occult blood test (g-FOBT) are the predominant tools currently used in CRC screening [3–5]. Although the screening strategy has clearly reduced the risk of CRC-associated mortality [6], the * Kun‑He Zhang [email protected] 1
Department of Gastroenterology, Jiangxi Institute of Gastroenterology & Hepatology, The First Affiliated Hospital of Nanchang University, Nanchang, China
Department of Gastroenterology, The Third Affiliated Hospital of Nanchang University, Nanchang, China
2
limitations in the test performance, access to screening tests and patient compliance compromise the diagnostic validity. Accordingly, most of patients develop regional progressive or metastatic disease [7]. Moreover, physicians face challenges in convincing asymptomatic individuals at average risk to undergo CRC screening due to the invasive feature of colonoscopy and the reluctance of handling stool samples. Therefore, effective and simple approaches are urge
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