By analyzing genetic alterations present in Colombian patients, a research project conducted at the Industrial University of Santander (UIS) aims to advance toward a more precise understanding of this type of cancer and lay the groundwork for more personalized treatments.
What happens to a person’s genes when they develop head and neck cancer? Answering this question is the goal of a study that seeks to characterize, for the first time in Colombia, the molecular alterations associated with head and neck squamous cell carcinoma and to determine which ones might be linked to the development of these tumors.
The doctoral project, titled “Identification of Molecular Alterations Implicated in the Development of Head and Neck Squamous Cell Carcinomas in Colombian Patients and Their Potential as Therapeutic Targets,” is being conducted by Shirley Pitalúa, a master’s student in Basic Sciences, and Nathalia Trujillo, a Ph.D. student in Biomedical Sciences, with participation from the Cooperative University of Colombia, the University of Santa Fe, and the National University, and involves the work of master’s and Ph.D. students.
The research stems from a need: Colombia does not yet have its own molecular characterization of this type of cancer. Although international studies have identified the most common mutations in other populations, the researchers note that these same alterations do not necessarily occur with the same frequency in the Colombian population.
For this reason, the study aims to understand what is happening in patients in the country. To do so, the team collected blood and tumor tissue samples from 30 patients and performed whole-exome sequencing, a technique that allows for the study of the regions of DNA responsible for producing proteins. Comparing the DNA from the blood to that from the tumor will make it possible to distinguish each patient’s underlying genetic characteristics from the alterations acquired during the development of the cancer.
Currently, the research is in the data analysis phase and is awaiting the sequencing results to identify the genetic variants present in the samples. The goal will be to determine which genes are altered, what functions they perform, and how these changes might be related to mechanisms characteristic of cancer, such as uncontrolled cell proliferation, evasion of cell death, and the ability to invade other tissues.
One of the expected outcomes is to identify between three and five alterations that, due to their frequency or their significance within the molecular pathways involved in cancer, may become candidates for a second phase of experimentation. These alterations will be evaluated using cell cultures and gene-editing tools such as CRISPR-Cas, with the aim of determining whether they actually promote behaviors associated with tumor development.
Toward More Personalized Medicine
Beyond identifying mutations, the scope of the research lies in generating original knowledge about head and neck cancer in the Colombian population. Currently, much of the evidence used to guide treatments comes from studies conducted primarily in populations in the United States and Europe. The researchers note that genetic differences between populations can alter the frequency of certain alterations and, potentially, the response to treatments.
Having a Colombian molecular profile could thus become a first step toward more precise medicine. In the future, this information could help specialists understand which alterations are most common in patients in the country and, subsequently, study which medications might be most appropriate for specific molecular characteristics.
The research also opens up possibilities for prevention. Analysis of DNA obtained from blood can reveal each patient’s genetic susceptibilities—information that, when relevant and in accordance with the study’s conditions, could help shed light on risk factors and underscore the importance of reducing exposures associated with the development of these tumors, such as tobacco and alcohol use.
The challenge is considerable. Researchers note that head and neck cancer is the sixth most common cancer worldwide and that, according to reports cited during the study, Colombia recorded nearly 3,000 new cases and approximately 1,400 related deaths in 2024.
Therefore, identifying which genetic alterations are present in Colombian patients is not merely an exercise in genetic characterization. It is the starting point for building local evidence that—through subsequent studies and a much larger sample size—will enable progress toward more precise diagnoses, better-targeted treatments, and, eventually, personalized medicine strategies for those facing this type of cancer.
In this sense, the research represents a first molecular map of a disease for which there are still significant gaps in knowledge in Colombia: understanding what we have so that, based on that information, we can begin to decide how to study, prevent, and treat it in a way that is better tailored to our own population.
