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Genetics of rare cancer syndromes 

Genetics of rare cancer syndromes
Genetics of rare cancer syndromes

Adam Shaw

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date: 12 July 2020

This chapter focuses on the rare cancer predisposition syndromes, that may occasionally be encountered in clinical practice. Although each one has a unique combination of associated tumours and other clinical features, they are linked by the underlying molecular function of their associated genes, and the need for a holistic and multidisciplinary approach to their management. The syndromes described in this chapter are all individually rare, but are associated with significant morbidity. They often present with unusual tumours, and the occurrence of a rare tumour should prompt consideration of an underlying genetic diagnosis. Knowledge of the natural history of these conditions allows appropriate surveillance and management.

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