The rare constitutional mismatch repair deficiency syndrome (CMMRD) is characterised by an increased incidence of tumours in the affected individual. Accurate diagnosis, accompanied by appropriate molecular genetic testing, plays a critical role in the surveillance and management of the individual's cancer and is also important for other family members. In this article, the authors describe the diagnostic process and clinical management of two brothers with CMMRD who were diagnosed and treated at the Department of Paediatric Oncology, Faculty of Medicine, Masaryk University and University Hospital Brno; and at the Centre for Precision Medicine of the University Hospital Brno.
More information on the contents of the publication can be found at the following link: Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome | npj Precision Oncology (nature.com).