Integration of germline genetic information can improve cancer diagnosis, treatment and prevention

Nazneen Rahman1,2

1Institute of Cancer Research, London, UK,2Royal Marsden, London, UK


Genes in which germline mutations confer substantial increased risks of cancer are called cancer predisposition genes (CPG). To date CPG testing and characterisation of CPG cancers has been relatively limited. In particular, tumor sequencing studies have typically used the germline data generated merely as an exclusion filter to remove non-somatic variants, and have not exploited opportunities to research the germline contribution to oncogenesis. Using data from >5000 individuals with cancer tested for a panel of cancer predisposition genes and >7000 tumors analysed by exome sequencing I will demonstrate how integration of information can improve cancer diagnosis, treatment and prevention.