New genes related to the risk of suffering from cancer – AIM Digital

The genetic causes of cancer are many: while some mutations are hereditary, others are acquired throughout life because of external factors or DNA copy errors. . Large-scale genomic sequencing has revolutionized the identification of these types of mutations-related cancers of the latter group – somatic mutations – but has not been as effective in identifying heritable genetic variants who predispose to this disease. Family studies are still the main method for identifying hereditary mutations.

Three researchers at the Center for Genomic Regulation (CRG) in Barcelona (Catalonia, Spain), led by research professor Icrea Ben Lehner, have developed a new statistical method to identify genes predisposing to cancer, from tumor sequencing data.

"Our calculation method uses the clbadic idea that cancer genes need two alterations to give rise to the disease, which allows us to systematically identify these genes from a set of genes. existing genomic data on cancer, "says Solip Park, first author of the study and postdoctoral researcher Juan de la Cierva at CRG

a control sample.In other words, they do not need to compare samples of cancer patients with those of healthy people "We now have a very powerful tool that will detect new genes predisposing to cancer and, therefore, help to improve the diagnosis and prevention of cancer." cancer in the future, "adds Park.

The work, just published Nature Communications, presents its statistical method -Alfred- and identifies 13 genes predisposing to cancer, including 10 new "We have applied our method to genomic sequence data from more than 10,000 patients with 30 different types of tumors and we have identified new and well-known genes that predispose to cancer and can significantly contribute to the risk of cancer", comments Lehner. 19659004] "Our results show that new genes predisposing to cancer may play an important role in some types of cancer.These genes would be linked to 14% of ovarian tumors, seven percent of bad tumors and, in one in 50 cases of all types of cancer.For example, inherited variants of one of these risk genes that we have just identified – the NSD1 gene – could be involved in cancer in three patients on 1000, "says Fran Supek, a former CRG member who currently runs his own group.

Researchers have been working on genomic data from several cancer studies around the world, such as the Cancer Genome Atlas Project (Tcga), but also on various projects that have nothing to do with cancer research. "" We have managed to develop and test a new method that, we hope, will expand our knowledge about genomics d cancer, and contribute to the research, diagnosis and prevention of this disease, "says Solip Park. He adds, "Our work shows how important it is to share genomic data.It's a success story about how sharing and opening up of data is so much more effective and has an effect We have combined the data from many different projects and by applying our method we have been able to identify important genes for cancer that have not been identified in their original studies. "

" Many badociations and genomic patient groups, because only by comparing data across hospitals, countries, and diseases, we can gain in-depth knowledge of many rare and common diseases, but unfortunately there are still researchers who do not share their data and it is something that we must absolutely change and actively promote as a society, "he concludes.

Source: CRG .-