Hereditary Thyroid Cancer Panel

Thyroid cancer is the most common malignant tumor of the endocrine system and accounts for approximately 1-3% of all newly diagnosed cancer cases. Most cases of thyroid cancer are sporadic; however, approximately 5%–10% have a familial component and are due to an inherited pathogenic variant. Thyroid cancer is divided into two types, based on the cells of origin: nonmedullary thyroid cancer (NMTC) and medullary thyroid cancer (MTC). NMTCs account for more than 95% of all thyroid cancers and about 5%–10% of patients have a reported familial history. Susceptibility to NMTC is also observed in a number of genetic syndromes including Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. MTCs account for less than 5% of thyroid malignancies. About 25% of diagnosed cases are due to inherited pathogenic germline variants in the RET proto-oncogene, responsible for multiple endocrine neoplasia type 2 type A (MEN2A) and multiple endocrine neoplasia type 2 type B (MEN2B). This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.