More than 100 new genetic factors linked to the development of colorectal cancer identified

Colorectal cancer is the most frequent in countries like Spain, a nation with almost 44,000 new diagnoses in 2022, according to the Spanish Society of Medical Oncology (SEOM). It is also an important cause of mortality, with some 18,000 deaths a year in Spain alone.

In this context, an international team of researchers headed by Ceres Fernández-Rozadilla, from the Santiago de Compostela Health Research Institute, in Spain, has tried to decipher the genetic susceptibility of this type of cancer through the study of more than 100,000 patients. with this tumor and more than 150,000 controls (healthy individuals), of European and Asian descent.

Scientists from the Bellvitge Biomedical Research Institute (IDIBELL) in Hospitalet de Llobregat, Barcelona, ​​as well as the Catalan Institute of Oncology, among other institutions, have also worked on the study.

The study constitutes the largest genome-wide association meta-analysis in this type of tumor developed to date, and has managed to identify 205 locations in our genome that confer risk of developing this disease. In addition, in a complementary way, gene expression and methylation have been analyzed in more than 1,000 samples of colonic mucosa and 15,000 samples of various other tissues, revealing 53 additional risk associations.

With all this genomic information, they have managed to identify 155 genes with effects highly related to the risk of suffering from colorectal cancer, many of which had not been linked to the development of these tumors until now.

The study has identified many new genetic factors linked to the development of colorectal cancer. (Illustration: Amazings/NCYT)

Thanks to the identification of these genes, it has been verified that the most relevant functions in determining the risk of suffering from colorectal cancer are: variations in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions. .

Analysis in multiple tissues further indicates that probably more than one third of the genes act outside the colonic mucosa.

The study is titled “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestry”. And it has been published in the academic journal Nature Genetics. (Source: IDIBELL)