OP013: Landscape of germline pathogenic variants in cancer susceptibility genes in patients with sarcoma

Abstract

Sarcomas are heterogenous mesenchymal tumors that mostly arise in bone or soft tissue. Sarcomas comprise only 1% of adult-onset cancers and over 20% of all pediatrics solid malignant cancers. The majority of sarcomas are soft tissue sarcoma and >40% of cases happen above age 65. Sarcoma is usually sporadic. Several rare cancer predisposition syndromes are associated with sarcoma such as Li-Fraumeni syndrome (LFS), Hereditary Retinoblastoma and Neurofibromatosis Type 1. These syndromes account for a small fraction of sarcomas.