In 2020, Colombia had 15,509 new cases and 4,411 deaths from breast cancer, the most common form of cancer in the country, according to statistics from the World Health Organization, hence the importance of identifying new genes that cause it.
Towards Personalized Medicine
Between 5%-10% of breast cancer cases are hereditary, meaning that they are the direct result of genetic changes (mutations) passed down by a parent to their child.
Professor Pedro Antonio Moreno Tovar, coordinator of the Bioinformatics and Biocomputing research group at Univalle's School of Systems and Computer Engineering, said that the development and application of "omics" techniques, (collective characterization and quantification of groups of biological molecules) allows the simultaneous analysis of all active genes in tumor cells versus normal ones.
In 2020, the group published "Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations" in the international scientific journal biomolecules.
The exome is composed of all the exons (the part of the mRNA that codes for proteins) of the genome. Researchers are using various computational techniques to search the exome for new cancer-causing mutations. Based on these, two new candidate genes have already been identified, which will be useful for early diagnosis and management of breast pathology.
"Phases 2 and 3 of the project are in progress to expand the number of patients, validate the genes found and identify new genes, if need be," Professor Moreno said.
Professor Moreno said that although some genes such as BRCA1 and BRCA2 only identify 10% of women affected with breast cancer, 85% of the population with breast cancer is of sporadic and multifactorial origin, that is, a combination of factors including people's exposure to hazards such as radiation; their diet or metabolism; and other genetic factors.
"Within this percentage, it is unknown how much could be the associated genomic component, and that is where the group is focusing its research," Prof. Moreno said.
Additionally, most genome studies do not include the genetic diversity found in Colombia and even less in the departments of Valle del Cauca and Cauca. "The population of southwestern Colombia is very heterogeneous, that is, it has a higher genetic diversity than in other regions of Colombia," Professor Moreno said, adding that this is why it is very important to carry out this type of genetic studies.
The idea is to identify people with these genes early, before the cancer manifests itself, so that patients could have a better prognosis for their management and survival.
The researchers say that the challenge in the short term is to use sequencing and bioinformatics analysis platforms in the country, with connectivity and access to links to the doctors who are in the offices attending their patients, even for those who work in remote areas of Colombia.
All this, with the support of the state, public universities and private enterprise, in order to provide a network of personalized and precision medicine for the affected population in particular.
"Today, EPSs cover these diagnostics at the level of some of the genes involved, but these exclusive services are not offered to the entire population in general... We want that in the near future, anyone can access these sequencing and analysis technologies," said Professor Moreno.
The hope is to continue to secure the necessary resources to sequence the Colombian population and to have more funding to do the analysis of genes, genomes and establish the complete network of mutation-sensitive sequences.
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| Photo: Some of the members of the Bioinformatics and Biocomputing research group, the Molecular Genetics group, the BioNanoElectronics group of Univalle and the Molecular Biology, Environmental and Cancer group - BIMAC of Unicauca. Credit: Univalle. |
Regional Colaboration
Professor Patricia Eugenia Vélez Varela, a researcher from Unicauca, has more than 30 years of research in cancer with Professor Moreno, providing advances that began with the refinement of treatments such as tamoxifen for breast cancer and have continued with the discovery of new genes and mutations unique to the Colombian ethnicity, which makes them important targets for the development of diagnostic measures and personalized and high-precision therapeutic management."In the Valle del Cauca and Cauca region there is a high incidence of cervical, melanoma, breast, gastric and prostate cancer, and the approach of finding new genetic variants, through these studies, will contribute to a more accurate knowledge for the Colombian ethnicity", Professor Vélez said, adding that public universities such as Univalle and Unicauca have the challenge of contributing to improve the Colombian health system, with state-of-the-art biotechnologies.
"In our team integrated by UniValle and UniCauca, we are focused on lowering the incidence rate of cancer patients, currently in breast cancer, looking for local mutated or mutation sensitive variants for the multiethnic Colombian population which allows us to approach with personalized and precision approach to cancer and other types of cancer because the approach can be adjusted to any type of cancer, using local referents and not from other countries to be able to make fine diagnostic predictions in Colombia," Professor Vélez said.
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| Photo: Dr. Javier De Las Rivas, a senior researcher at the Cancer Research Center of the University of Salamanca in Spain and president of the Iberoamerican Society for Bioinformatics, (SoIBio) Credit: Javier De Las Rivas. |
The Benefits of International Colaboration
Dr. Javier De Las Rivas, a principal investigator at the Salamanca Cancer Research Center in Spain and president of the Iberoamerican Society for Bioinformatics, (SoIBio) which includes members from Spain, Portugal and 20 Latin American countries, who concretized his collaboration on this research in 2017 after Professor Moreno was the organizer of the IV Colombian Congress of Bioinformatics and Computational Biology and the SoIBio Annual Meeting in Cali, Colombia.
The links have been strengthened and in recent years, Dr. De Las Rivas is collaborating in the exome analysis project.
"In this work we collaborated in the application of different bioinformatics methods of genomic data analysis of sequencing of the coding regions of the complete genomes (exomes) of tumors, to detect mutations in genes that were significantly associated with breast tumors in Colombian women (which was the specific and proper of this work)," Dr. De Las Rivas said, adding that he is currently continuing his assistance to expand the number of breast cancer patients studied.
"We certainly hope that all these efforts to work together in cutting-edge areas of biomedicine and science will be of great benefit to the communities of Colombia,'' Dr. De Las Rivas said.
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