In this review:
Regular readers of this Research Review on Precision Oncology will know that I favour the use of large somatic panels (DNA +/- RNA) to identify targetable mutations. These days, with the technology and panels available, it usually costs a similar price to undertake testing for a small panel of 3-5 genes as it does a large panel of 200-500 genes. By undertaking large panels, we have the opportunity to find rare but targetable mutations that may only be present in a small number of patients in each tumour type; but the finding of such mutations has totally changed the face of treatments for a number of tumour types that previously had few/no standard of care options with reasonable response rates. The advent of treatments for tumours such as FGFR2-rearranged cholangiocarcinoma, and the G12C-mutated pancreatic adenocarcinoma are starting to change the previously inevitable progression of these tumours. However, large panels can also uncover a range of germline mutations, including incidental findings not expected by the tumour type. These should also be seen as opportunities for identification of at-risk individuals and the chance to prevent family members from also developing the same cancers. In this Issue, we will therefore be focusing on the recently updated ESMO guidelines on germline-focused analysis of variants detected while undertaking large somatic mutations, and some of the tumour types that now have viable treatment options where previously none existed.
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