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

Date:
Thursday, Apr 4, 2019 10:00am – 11:30am
Conference:
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Authors:
Rachid Karam, PhD, Marcy Richardson, Kelly McGoldrick, Tyler Landrith, Kyle Allen, Amal Yussuf, Huma Rana, Ginger Haynes, Tina Pesaran, MA, MS, CGC, Holly Laduca, Jill Dolinsky, Elizabeth Chao, Kate Krempely, Blair R. Conner, Samantha Culver, John Lee, Sarah Nashed, Deborah Toppmeyer, Debra Collins
Collaborators:

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.
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