Functional genomics for the description of mutations in the molecular diagnosis of sporadic colon and rectal cancer in a Colombian population.

Project: Research/Creation Project

Project Details


Introduction: Hereditary factors are related to the development of colorectal cancer (CRC). The prevalence of germline genomic alterations associated with the development of colorectal carcinoma has been identified in 5% to 18% of patients. The current use of molecular methodologies for large-scale genomic analysis, such as next-generation sequencing (NGS), allows the simultaneous analysis of genes potentially related to the pathophysiology of CRC. The identification of pathogenic variants has great utility in the therapeutic decision for the patient, in the cascade analysis in the family of those affected and in the understanding of the molecular mechanisms underlying the etiopathology of CRC. Objective: The present project seeks to identify and validate germline variants and/or regulatory factors of gene expression potentially related to the molecular etiology of CRC. Methodology: An extended genomic analysis will be performed by next generation sequencing (NGS) in 100 patients with CRC not selected by age or family history who have attended the Hospital Universitario Mayor-Méderi. Some variants of interest for their potential pathogenicity will be functionally validated. A cascade analysis will be performed in first-degree relatives of those affected, with the aim of offering genetic counseling. Expected results: This study will allow the identification of pathogenic germline molecular variants potentially related to the molecular etiology of CRC in the Colombian population. The implementation of an extended genomic analysis will achieve the simultaneous analysis of hundreds of genes and will allow determining their impact on CRC. In vitro functional studies will validate some variants of interest. Finally, the implication of genetic variants in the therapeutics used in the treatment of CRC will be estimated.


Colon cancer, pathogenic mutations, germ line, colon cancer
Effective start/end date1/1/2112/31/22

Main Funding Source

  • Competitive Funds


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