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Aurora magazine

The new breast cancer genetic map arrives

An international study has identified more than 350 genetic variations that increase the risk of developing breast cancer. The variants in question affect about 190 genes, which could add to those normally tested. In this way you will have an even clearer map of the genes that cause the disease, allowing you to assess its risks more precisely than today. Most diseases with a genetic basis are caused by the interaction of multiple variants.

These change the way certain genes work, even causing them to turn on or off. In such cases, finding the single variation on the single gene is not enough to get a clear idea of ​​the disease. Rather, a map containing all possible genetic influences must be made. Breast cancer is one of these diseases.

Previous studies had already identified 150 regions of the genome linked to breast cancer risk. Within each region there may be multiple genetic variants: it is rare that a given variant can be linked to a specific gene. It is therefore necessary to study how each variant influences the disease and where it is more likely to occur. To do this, you need studies like the one in question, conducted by Dr. Laura Fachal.

In the new study, the researchers studied the DNA of 110,000 people with cancer, comparing it with that of 90,000 healthy people. This allowed them to identify 352 genetic variants that influence the risk of getting sick. It is not yet fully understood which genes they link to, but researchers have identified 191 areas that could be involved.