An international study led by researchers at the Translational Research Laboratory (LRT) of the ICO-IDIBELL, in collaboration with the ICO programmes Hereditary Cancer and Cancer Prevention and Control, has identified new genes that could be involved in the susceptibility to suffer from breast cancer.

It has been known for years that the risk of having breast cancer greatly increases when the genes BRCA1 and BRCA2 mutate. These genes, however, only explain about 30% of hereditary breast tumours, so it is still unknown what alteration makes the risk increase in those families with a great number of cases of cancer. This means that the specific individual who is more susceptible to cancer cannot be identified to make a close follow-up and provide them with prevention measures.

One of the research lines of the ICO-IDIBELL is to identify new genes involved in breast cancer. In a study published in the journal Breast Cancer Research, they have analyzed a signaling pathway involved in this type of cancer and related to damage repair in DNA. Using proteomics techniques new proteins associated with this pathway have been identified and then the corresponding genes analyzed.

In the analysis of more than 9,000 people who have a mutation in BRCA1 or BRCA2 genes - 400 of whom were patients of the ICO - researchers have shown that genetic variants of the gene MORF4L1 could modify the cancer risk associated with BRCA2. In other words, the breast cancer appears in people with mutated BRCA2 earlier or later depending on the variant of gene MORF4L1 they may have.

From now on scientists hope to repeat the analysis with more cases to confirm the results and expand the study to other identified genes.