The value of genomics in rare cancers.

Ultan McDermott1

1Wellcome Trust Sanger Institute, Hinxton, UK


The sequencing of rare cancers has lagged behind that of the more common tumour types.This has been largely a consequence of their rarity and the realization that in more common tumours the degree of genomic heterogeneity is only captured by sequencing many hundreds of patients. However, there is increasing evidence that the genomic landscape of some of these more obscure tumours can be simpler than that of their more prevalent counterparts and thus be amenable to definition using in some cases a handful of samples. These less complex mutational landscapes offer the opportunity for a more foucsed look at oncogenic processes and provide fundamental insights into cancer biology. We can therefore make a compelling case for the systematic characterization of the entire compendium of rare tumours and that this would be best achieved through focused international consortiums, such as the International Rare Cancers Initiative and the EORTC SPECTArare programs.