Germline mutations in cancer predisposition genes among patients with thyroid cancer
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
Authors: Junne Kamihara; Holly LaDuca; Emily Dalton; Virginia Speare; Judy E. Garber; Mary Helen Black