Wellcome Genome Campus Conference Centre, Hinxton, Cambridge (UK), 30-31 May 2016
The partners analyzed the progress of PanCanRisk project during the first year and also, they defined specific goals and next steps. Firstly, Stephan Ossowski discussed the development of a computational platform for sequencing-based cancer risk analysis, and Ángel Carracedo mentions that the compilation of the germline variants are very important, regardless of whether they have controls to compare patients suffering from cancer to people without the disease, and proposes the addition of other exomes from people affected by many different diseases, but mainly cancer. Stephan Ossowski reiterates that at least 100 exomes have to be added to the database each time to avoid tracing the information back to person.
Then, Hana Susak discussed tools for rare and common variant association analyses in cancer studies, Oliver Stegle analysed the identification of regulatory variants and eQTLs, integrating germline and somatic mutations and phenotypes. Gabriella Palacios and Ceres Fernandez also discussed her side of replication and clinical validation in cancer and cancer-risk cohorts.
Finally, Roslin Russell discussed the computational biomarker development for cancer predisposition genes and Aura Carreira the functional study of identified risk genes and regulatory variants.