Session # Abstract Poster# 167

RNA genetic testing in hereditary cancer improves variant classification and patient management

Top Rated Poster

• RNA genetic testing (RGT) as a supplement to DNA genetic testing (DGT) improves variant classification in hereditary cancer predisposition testing.
• RGT is expected to affect medical management in at least 1 in 50 patients who undergo DGT.
• Specifically, in the case of splicing variants identified in clinically actionable genes, the reclassification of these germline alterations as either disease-causing or neutral proved to be a fundamental step to alter medical management.

• Authors: Rachid Karam; Kate Krempely; Marcy Richardson; Kelly McGoldrick; Blair R. Conner; Tyler Landrith; Kyle Allen; Amal Yussuf; Huma Rana; Samantha Culver; John Lee; Sarah Nashed; Deborah Toppmeyer; Debra Collins; Ginger Haynes; Tina Pesaran; Holly LaDuca; Jill Dolinsky; Elizabeth Chao
• Collaborators: Cedar Sinai Medical Center; Dana Farber Cancer Institute; Rutgers Cancer Institute of New Jersey
• Conference: ACMG 2019
• Date: Thursday, Apr 04, 2019 10:00am - 11:30am