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To NMD and Beyond: Identifying Mutations in the 3’ Terminus of Mismatch Repair Genes.

Date:
Wednesday, Jul 5, 2017 12:00pm – 12:00pm
Conference:
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Authors:
Brandon Smith, Kory Jasperson, Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC
  • Clinical evidence and tumor testing data are essential in determining pathogenicity of truncating alterations is the 3’ end of genes.
  • Identifying the most distal known pathogenic mutation would provide evidence to classify other C-terminal truncating alterations.
  • As evidence used in classifying these alterations may be dependent on unique data from the laboratory, the need for continued data sharing among commercial laboratories is critical.
Poster