Familial Cancer Clinical Unit

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  • Verónica García
  • Fátima Mercadillo

Lynch syndrome is a very complex entity associated with high risks for a wide variety of malignancies, including colorectal, endometrial, ovarian, gastric, urinary tract, pancreatic, biliary, small intestinal, prostatic, and brain cancers. Until now, the malignancies developed in people with Lynch syndrome were treated exactly in the same way as their sporadic counterparts. However, recent therapeutic advances in the immunologic effects of microsatellite instability (MSI), the hallmark of Lynch syndrome associated tumours, have resulted in important changes in the treatment of these patients.

MSI, by definition, is characterised by the somatic accumulation of mutations, which subsequently produce potentially antigenic frameshift neopeptides that account for the infiltrating lymphocyte reaction classically observed in Lynch-associated tumours. The recent emergence of immune checkpoint inhibitors that work on the patients’ own immune system has led to the use of this underlying biological characteristic to advance in the treatment of Lynch syndrome-associated tumours.

The Familial Cancer Clinical Unit (FCCU) is not only committed to screening blood samples with the aim of identifying germline mutations, but also to analysing tumour samples to determine their microsatellite status. Both findings play a critical role in the understanding of the molecular drivers of malignancy and the implementation of innovative precision-based therapies.