Functional genomics for the description of mutations in the molecular diagnosis of sporadic breast cancer in Colombian population

  • Restrepo, Carlos Martín (PI)
  • Sierra, Diana (CoI)
  • Fonseca-Mendoza, Dora Janeth (PI)
  • Ortega-Recalde, Oscar (CoI)
  • Bravo, Nora Contreras Contreras (CoI)
  • Morel, Adrien (CoI)
  • Cabrera, Rodrigo (CoI)

Project Details


Given the multifactorial nature of cancer in general, it is necessary to determine the genetic component of this pathology, in order to identify the genes involved in the molecular mechanisms involved in the development of the disease. Technological advances, specifically in the field of molecular biology, have made it possible to detect, quickly and effectively, some biomarkers (BRCA1 and BRCA2, among others) in breast cancer, which have been used not only in research studies of cellular processes and signaling pathways involved in molecular pathophysiology, but also in the classification of breast cancer. and in the development of specific treatments. Currently, the possibility of extended genomic analysis using methodologies such as NGS (Next Generation Sequencing) has allowed the analysis of hundreds of different BRCA1 and BRCA2 genes in search of new germline genetic variants potentially pathogenic and related to the development of breast cancer.
Short titleFunctional genomics BC
Effective start/end date1/02/2231/08/23

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being
  • SDG 4 - Quality Education


  • Genetic susceptibility
  • genetic variants
  • Breast cancer
  • genomics


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