Colorectal cancer biomarkers and their impact on the clinical practice

ABSTRACT

Colorectal cancer (CRC) holds third place in the global ranking of malignancies worldwide. Patients with CRC commonly show distinct outcomes and treatment responses due to their biological features and tumoral biomarkers. This review explores the repertoire of molecular biomarkers in CRC, comprised of chromosomal aberrations and genomic instability and genetic mutations. We also underline the stratification of CRC patients into four clinically defined subsets: CMS1 (MSI, immune); CMS2 (canonical); CMS3 (metabolic); and CMS4 (mesenchymal), as well as novel techniques to be applied very soon in the field, such as cell-free DNA, tumor mutational burden, and microbiome profiling.

RESUMO

O câncer colorretal (CCR) ocupa o terceiro lugar no ranking mundial de doenças malignas. Pacientes com CCR geralmente apresentam resultados e respostas ao tratamento distintos devido às suas características biológicas e biomarcadores tumorais. Esta revisão explora o repertório de biomarcadores moleculares no CCR, composto por aberrações cromossômicas e instabilidade genômica e mutações genéticas. Também destacamos a estratificação dos pacientes com CCR em quatro subconjuntos clinicamente definidos: CMS1 (MSI, imune); CMS2 (canônico); CMS3 (metabólico); e CMS4 (mesenquimal), bem como novas técnicas a serem aplicadas muito em breve na área, como DNA livre de células, carga mutacional tumoral e perfil do microbioma.

Keywords:

Biomarcadores - Genômica - Prognóstico - Agentes antineoplásicos - Neoplasias colorretais.

Descritores:

Biomarcadores - Genômica - Prognóstico - Agentes antineoplásicos - Neoplasias colorretais.

FUNDING INFORMATION

This work was supported by Instituto COI.

Conflict of Interests

The authors declare no conflict of interest relevant to this manuscript.

AUTHOR CONTRIBUTIONS

Conceptualization: J.C, A.P.V, L.H.A and F.M.A.C.V. Writing-original draft preparation: J.C, A.P.V and F.M.A.C.V.

Writing-review and editing: J.C, A.P.V, K.B.A, L.H.A and F.M.A.C.V.

All authors have read and agreed to the final version of the manuscript.

Publication History

Received: 10 March 2021

Accepted: 25 June 2021

Article published online:
16 September 2021

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