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Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines.

Session:
#2380
Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm
Conference:
ASHG 2017
Authors:
Brigette Tippin Davis, Carin Espenschied, Carrie Horton, Fergus Couch, Holly Laduca, Jill Dolinsky, Kelly Fulk, Laura Panos, Melissa Pronold
Collaborators:
  • In a large multigene panel testing cohort, genes commonly mutated among patients with breast, colorectal, ovarian, and endometrial cancers generally have established cancer risk estimates and management recommendations for the respective cancer types.
  • In contrast, genes commonly mutated among pancreatic and prostate cancer patients are lacking associated cancer risk and management data.
  • Research efforts focused on generating precise cancer risk estimates and expanded testing and management recommendations for more commonly mutated genes will have the largest immediate impact for counseling patients and their families.
Poster