Colon polyps are premalignant lesions, that is, they are not initially dangerous, but in the absence of proper clinical management they can turn into cancer. When the number of polyps is high, greater than 10 or 20, it is what we call polyposis.
Several genes for hereditary predisposition to colorectal polyposis are already known. However, the genetic causes of most of the clinical cases are still unclear. Understanding the genetic alterations and the risks associated with each gene is key to carrying out adequate clinical management in patients and their families.
The hereditary cancer research group from IDIBELL and the Catalan Institute of Oncology, led by Dr. Laura Valle, has sequenced the genome of 44 patients with colorectal polyposis, and has validated the results with 200 additional patients affected by this disease. The aim of the work, published in the journal Genes and Diseases, was to identify specific mutations that predispose carriers to developing colorectal polyposis. In this regard, researchers have identified eight genes that, when mutated, activate the Wnt signaling pathway and predispose to developing colorectal polyposis.
If the results are validated in other patients, the identified genes will be included in the near future in the genetic diagnosis of patients with polyposis and/or colorectal cancer. Knowing the genetic alterations that cause predisposition to this disease, associated with an increased risk of colorectal cancer, has important implications for the clinical management of carriers, since prevention strategies can be applied and/or intensified follow-up to prevent or make an early diagnosis of cancer.
The study, funded by the MedPerCan Project (Personalized Medicine in Cancer – Catalonia: Pilot study on the impact of genomic analysis on decision-making in oncology) and the State Research Agency, has had the collaboration of members of the Barcelona Supercomputing Center, the CNAG-CRG, and the European Hereditary Cancer Reference Network (ERN GENTURIS) through SOLVE-RD (https://solve-rd.eu/).
The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.
IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).