A large international study, in collaboration with Víctor Moreno and Henar Alonso of the Catalan Institute of Oncology (ICO), IDIBELL and the University of Barcelona, ​​together with other Spanish CIBER researchers, has identified 40 new genetic variants (SNPs) involved in the germinal predisposition to colorectal cancer.Certain DNA changes, which are present in all our cells at birth, can predispose to this disease. The identification of these new genetic variants, together with the 60 ones already found in previous studies, increases the number of known genetic markers to 100 that confer predisposition to this disease. The study highlights the importance and need for international collaborative studies.The conclusions of the article, published in the journal Nature Genetics, allow advance in the genetic architecture of this cancer (the most common in Spain and the second cause of death related to cancer after lung cancer), as well as its potential application to improve early detection in the general population.

Study comprising more than 125,400 patients 

This study is one of the largest carried out to date in colorectal cancer. It has been developed by complete genome sequencing and genetic association studies, comparing cases and controls in a total of 125,478 individuals. A total of 21 cohorts of colorectal cancer patients and control individuals from the US, Canada, Spain, and other countries of the European Union participated in the study. The international GECCO consortium, based in Seattle, USA, coordinated this large scale international collaboration.

 

 

https://www.nature.com/articles/s41588-018-0286-6

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