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: Annual Clinical Genetics Meeting (ACMG) 2019
  • Date: Thursday, Apr 04, 2019 10:00am - 11:30am

Search Results

Start your search...