Session # 108

BRCA1/2 testing criteria offer high clinical sensitivity for ATM, PALB2 and CHEK2 carriers in a multigene panel cohort

  • NCCN BRCA1/2 testing criteria demonstrated high clinical sensitivity when applied to ATM, CHEK2, and PALB2.  
  • Individuals with mutations in ATM, CHEK2, and PALB2 were best captured by criteria without an age limit.
  • Further investigation of BRCA2, ATM, CHEK2, and PALB2 mutation carriers not meeting any BRCA1/2 testing criteria will help identify further opportunities to improve sensitivity for without significantly compromising specificity

  • Authors: Carrie Horton; Lily Hoang; Ashley Deckman; Holly LaDuca
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Friday, Apr 13, 2018 10:30am - 12:00pm

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