Proteogenomic biomarkers in colorectal cancers: clinical applications

Abstract

Introduction: Colorectal cancer (CRC) is one of the leading cancers in terms of incidence and mortality, rate requiring a multidisciplinary approach. The discovery of specific CRC biomarkers has caused a paradigm shift in its clinical management. Areas covered: The aim is to illustrate the possible clinical applications of CRC biomarkers through an updated literature review (from 2015 to 2020) based on the PubMed database. A relationship between cancer localization and genetic profile has been identified. Nowadays, the tumor markers are largely used to select patients that could really benefit from a specific type of adjuvant therapy, in order to optimize treatment programs, especially in metastatic patients. This review highlights both CRC biomarkers' advantages and critical issues. Expert opinion: New biomarker discoveries allow to set noninvasive tests that could increase patient's compliance with therapy. They also permit a cost-effective early diagnosis, as well as patienttailored treatments, improving the overall survival. The CRC biomarkers could also have a prognostic value, and usually, they are included in follow-up programs. However, despite the continuous progression of new technologies, their clinical validation is still debated. In this context, additional clinical studies are still necessary to identify, among potential markers, the most effective ones.

Proteogenomics and its applications in biology and precision medicine

“…Tuy nhiên, bất chấp sự tiến bộ liên tục của các công nghệ mới, việc xác nhận lâm sàng của chúng vẫn còn đang tranh cãi. Trong bối cảnh như vậy, các nghiên cứu lâm sàng bổ sung vẫn cần thiết để xác định các dấu ấn hiệu quả nhất trong số các dấu ấn tiềm năng (Binetti et al, 2020).…”

An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus

“…Proteogenomics platforms aim to define the expressed and mutated genome in a diseased state to better determine the mechanisms whereby signal transduction is re-wired through mutant protein signalling [1]. These approaches have been implemented in many cancer types including ovarian, colorectal, endometrial, lung, prostate and renal tissues [2][3][4][5][6]. Although disease-specific signalling maps can be constructed, whole-genome cancer sequencing has revealed a patient-specific cancer barcode [7,8] that complicates stratification of patients based on gene mutation status.…”