Comprehensive detection of germline variants by MSK-IMPACT a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

摘要

BackgroundThe growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families.