Mosaic variegated aneuploidy (MVA) is a rare genetic condition that groups together a number of individuals with constitutional mosaic aneuploidies involving different chromosomes, associated with a constellation of clinical features such as developmental delay, microcephaly, and other congenital defects. Cancer predisposition, especially embryonal tumours, is one of the most important clinical signs of MVA. Among several others, spindle assembly checkpoint (SAC) is an important mechanism involved in the correct segregation of chromosomes, thus preventing the appearance of aneuploidies. To date, 3 SAC genes − BUB1B, CEP57, and TRIP13 − have been identified as being involved in MVA. Mutations in these genes only account for a proportion of MVA patients. The identification of new genes involved in MVA is not only essential for genetic counselling and for the management of these patients, but also to unravel the complex relationship between aneuploidy and carcinogenesis.
We also continued our research to try to decipher the genetic bases of familial breast and colorectal cancer, and to apply such knowledge to clinical practice through our Familial Cancer Consultancy in the Fuenlabrada University Hospital. In addition to both identifying new genes involved in the susceptibility to these tumours and quantifying the associated risk, we have also been exploring new therapeutic tools that could be useful in the future.