Mutation detection in patients with advanced cancer by universal sequencing of cancer-related genes in tumor and normal DNA vs guideline-based germline testing

D Mandelker, L Zhang, Y Kemel, ZK Stadler, V Joseph… - Jama, 2017 - jamanetwork.com
Importance Guidelines for cancer genetic testing based on family history may miss clinically
actionable genetic changes with established implications for cancer screening or
prevention. Objective To determine the proportion and potential clinical implications of
inherited variants detected using simultaneous sequencing of the tumor and normal tissue
(“tumor-normal sequencing”) compared with genetic test results based on current
guidelines. Design, Setting, and Participants From January 2014 until May 2016 at Memorial …