Abstract
Colorectal cancer (CRC) is a leading cause of death among cancer patients. This heterogeneous disease is characterized by alterations in multiple molecular pathways throughout its development. Mutations in RAS, along with the mismatch repair gene deficiency, are currently routinely tested in clinics. Such biomarkers provide information for patient risk stratification and for the choice of the best treatment options. Nevertheless, reliable and powerful prognostic markers that can identify “high-risk” CRC patients, who might benefit from adjuvant chemotherapy, in early stages, are currently missing. To bridge this gap, genomic information has increasingly gained interest as a potential method for determining the risk of recurrence. However, due to several limitations of gene-based signatures, these have not yet been clinically implemented. In this review, we describe the different molecular markers in clinical use for CRC, highlight new markers that might become indispensable over the next years, discuss recently developed gene expression-based tests and highlight the challenges in biomarker research.
Highlights
The global burden of colorectal cancer (CRC) is anticipated to increase by 60%, with 2.2 million new cases and 1.1 million deaths by 2030 [1]
International Study of Oxaliplatin/Fluorouracil/Leucovorin in the Adjuvant Treatment of Colon Cancer), oxaliplatin-based adjuvant chemotherapy has been the standard treatment for stage III Colorectal cancer (CRC) patients, and combinations of fluoropyrimidines with oxaliplatin led to improved overall survival and reduced risk of relapse in these patients [4,5]
Biomarkers can greatly improve the selection of treatment strategies for CRC patients
Summary
The global burden of colorectal cancer (CRC) is anticipated to increase by 60%, with 2.2 million new cases and 1.1 million deaths by 2030 [1]. International Study of Oxaliplatin/Fluorouracil/Leucovorin in the Adjuvant Treatment of Colon Cancer), oxaliplatin-based adjuvant chemotherapy has been the standard treatment for stage III CRC patients, and combinations of fluoropyrimidines with oxaliplatin led to improved overall survival and reduced risk of relapse in these patients [4,5]. Over the last couple of years, further diagnostic factors, such as perineural invasion and poor histological differentiation, bowel obstruction or perforation and advanced tumor stage (T4) at the time of surgery, became widely accepted criteria to identify high-risk patients among early stage CRCs. Major technological developments in the field of molecular biology have led to the clinical implementation of DNA testing on tumor tissue samples. We will describe the major challenges encountered in biomarker research and its translation into the clinical setting
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