For years it has been known that we have two genes, BRCA1 and BRCA2 that, when they are mutated, greatly increases the risk of breast cancer. These genes, however, explain only 30% of hereditary breast tumors. So, in many families who have several cases of breast tumor, we don’t know which alteration makes increase the risk. This makes it impossible to identify which specific individuals are more predisposed to cancer for closer monitoring them and apply preventive measures.

One of the research lines of LRT lines and ICO programs mentioned is to identify new genes involved in breast cancer. In a study coordinated by the head of breast cancer research group at IDIBELL, Miguel Angel Pujana, published in the journal Breast Cancer Research, has studied a signaling pathway involved in this type of cancer and related to the repair of damage DNA. Using proteomics techniques they have identified new proteins associated with this pathway and, subsequently, the corresponding genes have been analyzed for their role in cancer susceptibility.

In a study of more than 9,000 people who have a mutation in BRCA1 or BRCA2 genes (400 of whom were patients in the ICO), researchers have found that genetic variants in MORF4L1 gene may modify the risk of cancer associated with BRCA2; is to say, those with BRCA2 mutation, breast cancer will appear before or after depending on the MORF4L1 variant gene. As of now, scientists hope to repeat the analysis with more cases to confirm the results and expand the study to other identified genes.

Article’s reference

Martrat G.*, Maxwell C.A*, et al. Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Research 2011, 13:R40doi:10.1186/bcr2862.

*IDIBELL researchers