Genetic predisposition to gastrointestinal cancer

Problem

Cancer is the second leading cause of death worldwide. Gastrointestinal neoplasms, such as colorectal cancer, gastric cancer and pancreatic cancer, are common tumours. An important number of these cancers are due to alterations of genes, which will be transmitted down generation after generation within the same family.

It is necessary to determine what these genes are, how they work, and whether their alteration predisposes people to cancer. This will improve knowledge of these diseases, permit the identification of people at risk, and enable strategies to be designed for personalised prevention and treatment.

Approach

Our group works to identify alterations in the human genome which are relevant for the inherited predisposition to develop gastrointestinal neoplasms. To determine them, we use genetic association studies, where we compare the genomes of patients and healthy controls, and massive sequencing studies to decode the genome.

To test the effect of these genetic alterations, we use molecular and cell biology tools such as gene editing with CRISPR and organoid culture, which are tridimensional structures that recreate the gastrointestinal tissue in the laboratory.

Impact

Our research identifies new genes and genetic variants involved in hereditary predisposition to gastrointestinal cancer. Our group has been able to tackle new genetic variants by means of the results obtained in genetic association studies performed by international collaborative efforts.

Sequencing studies have identified relevant candidate genes, and we are applying functional studies to corroborate their implication in cancer predisposition. Our group wants to use these new genetic variants to improve the clinical management of patients and, as a result, offer them personalized follow-up and treatment.