objectives:
- Create biobanks and (germline) genetic datasets for cancer patient cohorts
- Validate (germline) cancer genetic risk profiles in patient cohorts
- Integrate with results and guidelines from the million genomes of Europe effort (MG+)
WP4 aims to establish an inventory of available genetic datasets that may be used to evaluate genetic risk prediction methods in specific populations through a consortium-wide survey (e.g. in an EU country where this has not been done).
Local validation initiatives will serve as templates for the survey questions that must be posed. The overview of datasets will be made available to consortium members.
For populations where genetic profiling validation is desired but no genetic dataset exists, samples can be genotyped to generate new genetic datasets. We will study novel advancements in PRS prediction, including as protective effects and personalized forecasts.
Using pre-existing instruments and scripts, genetic risk profiles will be validated (e.g. Canrisk, R-scripts for PRS calculation and analysis). Our members are engaged in the Genome of Europe (GoE) consortium, and we will connect both endeavors when it is deemed acceptable to do so.
