Abstract
A Mutational Signature that Predicts Prognosis and Benefit of Immune Checkpoint Blockade in Colorectal Cancer
Highlights
Colorectal cancer (CRC) is characterized by broad genomic and transcriptional heterogeneity
The mutational signature classifier consisted of 27 mutated genes including APC and TCF7L2 that are relevant to the WNT signaling pathway and influence the cancer cell metastatic ability [41,42,43], and BRAF and NRAS that are involved in the EGFR signaling pathway and associated with drug-resistance [44,45,46,47]
This study presents a novel valuable mutational signature that could be used to predict overall survival (OS) and support immunotherapy selection, but several limitations still need to be noted
Summary
Colorectal cancer (CRC) is characterized by broad genomic and transcriptional heterogeneity. It is known that these alterations promote the dysplasia and tumorigenesis of CRC [3, 4], but the genomic basis of this variability remains poorly understood [5]. Previous studies have shown that treatment response and survival rate of CRC patients depend on tumor staging and on heterogeneous and epigenetic molecular features [8,9,10]. It is significant to identify an effective system that better predicts overall survival (OS) and treatment selection of patients with CRC. Profiling studies have been carried out to identify patterns of gene and which might predict CRC survival and recurrence [11,12,13,14], expression profile is greatly influenced by physiological and pathological conditions that lead to poor reproducibility in the process of library construction. Further analysis and validation in larger, independent cohorts in combination with mutated genes to predict prognosis are essential prior to application in a clinical setting
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