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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:
Amal Yussuf, Blair R. Conner, Deborah Toppmeyer, Debra Collins, Elizabeth Chao, Ginger Haynes, Holly Laduca, Huma Rana, Jill Dolinsky, John Lee, Kate Krempely, Kelly McGoldrick, Kyle Allen, Marcy Richardson, Rachid Karam, PhD, Samantha Culver, Sarah Nashed, Tina Pesaran, MA, MS, CGC, Tyler Landrith
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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