A study that identifies for the first time more than 100 new genetic factors linked to colorectal cancer

  • This is the largest study on the genetics of colorectal cancer risk.
  • The study, carried out by a global consortium, with the participation of IDIBELL and the Catalan Institute of Oncology, opens new strategies for treatment and chemoprevention.
NO001 - V Moreno_Nat Gen - Imatge noti

A study published in Nature Genetics led by the Santiago de Compostela Health Research Institute (IDIS), in which researchers from IDIBELL and the Catalan Institute of Oncology have participated, has identified more than 100 regions of the genome and 155 genes linked to colorectal cancer development. This study establishes, for the first time, the relationship of many of them with this type of cancer.

Colorectal cancer is the most frequent in Spain, with almost 44,000 new diagnoses in 2022, according to the Spanish Society of Medical Oncology (SEOM). It is also a principal cause of mortality, with 18,000 deaths a year only in Spain. In this context, a team of international researchers has tried to decipher the genetic susceptibility of this type of cancer by analyzing more than 100,000 patients with this tumor and more than 150,000 controls (healthy individuals) of European and Asian descent.

The study has carried out the largest genome-wide association meta-analysis in this type of tumor developed and has identified 205 locations in our genome that confer the risk of developing this disease. In addition, gene expression and methylation have been analyzed in more than 1,000 samples of the colonic mucosa and 15,000 samples of other diverse tissues to reveal 53 additional risk associations.

With all this genomic information, they have identified 155 genes associated with colorectal cancer risk, many of them had not been linked to the development of these tumors until now.

Thanks to the identification of these genes, it has been verified that the most relevant functions related to 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 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).

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