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Germline mutations in cancer predisposition genes among patients with thyroid cancer

Session:
#1581
Date:
Monday, Jun 5, 2017 1:15pm – 4:45pm
Conference:
ASCO 2017
Authors:
Emily Dalton, Holly Laduca, Judy E. Garber, Junne Kamihara, Mary Helen Black, Virginia Speare
Collaborators:
  • We observed a high rate of germline mutations among individuals with thyroid cancer presenting for clinical genetic testing (n=2,678; 11.1% positive overall), even in the absence of other primary cancer diagnoses (9.7% positive among patients with thyroid cancer alone).
  • For those with thyroid cancer alone, CHEK2 was most frequently mutated (3.1%), followed by APC (2.0%), ATM (1.6%) and PALB2 (1.2%).
  • CHEK2 mutations were particularly enriched among patients with both thyroid and breast cancer compared to those with thyroid cancer alone (5.5% vs. 3.1%), which may be indicative of a subpopulation at higher risk for both
Poster Abstract