Chromosome Instability syndromes

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. This can result in inheritable disorders associated with an elevated risk of specific cancers and characteristic patterns of clinical and physical findings. In many instances, these disorders are diagnosed in childhood, but may also manifest much later in life.

Our aim is to provide a comprehensive long term service for individuals with chromosomal instability and cancer predisposing syndromes. We will develop a specialist multidisciplinary clinical service, coordinating care for cancer associated inherited conditions, organise regular screenings for disease specific complications with local services and acquire data in the management and patient experience of those with cancer predisposing syndromes and the treatment of cancer associated with these syndromes.

Due to an increased risk of malignancy, there are a wide range of tests and investigations that patients require in order for their care to be appropriately managed. Our pathway coordinator supports the multidisciplinary team by centralising external patient investigations and test results, to ensure that the team have full clinical oversight and awareness and that the patient pathway runs as smoothly as possible. The coordinator also collects data in order to attract funding for the clinic, further research and improve the patient experience.