DR-271 Population genomics study to uncover the role of rare variants in heritable risk of sarcoma

Sarcoma is a rare and complex cancer with poor prognosis and survival. While existing genetic studies in cancer have focused on common cancer types such as Breast cancer, we have endeavoured to uncover the underlying genetics of sarcoma by establishing the International Sarcoma Kindred Study (ISKS) consortium. The goal is to better inform standard clinical care of sarcoma. We have performed whole genome sequencing on 1,644 ISKS cases, 3,611 healthy controls and have developed a novel methodology to determine key genetic pathways implicated in sarcoma. Our analysis has revealed novel genetic signatures which will be validated in an independent study.

David Thomas, Garvan Institute of Medical Research, Australia