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Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

Date:
Friday, Sep 30, 2016 11:30am – 12:45pm
Conference:
NSGC 2016
Authors:
Carin Espenschied, Chia-Ling Gau, PhD, DABMG, Heather Hampel, Holly Laduca, Rachel McFarland, Shuwei Li
Collaborators:
  • Types and frequencies of Lynch syndrome mutations identified through multigene panel testing
  • The mutation types and most frequently seen mutations in this multi-gene panel testing cohort support previous Lynch syndrome literature.
  • While most previous studies suggest that mutations in MLH1 and MSH2 are the most common causes of LS, MSH6 and PMS2 were most common in this cohort.
Poster