Familial Medullary Thyroid Cancer

Familial Medullary Thyroid Cancer (FMTC) is an inherited cancer syndrome characterized by the development of medullary thyroid carcinoma (MTC), a cancer arising from the parafollicular C cells of the thyroid gland. These cells produce calcitonin, a hormone involved in calcium regulation.

FMTC can occur as an isolated condition or as part of Multiple Endocrine Neoplasia type 2 (MEN2) syndromes, which may also include pheochromocytoma (adrenal gland tumors) and parathyroid tumors. The isolated FMTC form tends to have a later onset and better prognosis than MTC occurring in MEN2A or MEN2B syndromes.

Individuals with FMTC typically develop MTC at an older age (usually after age 40) compared to those with MEN2A or MEN2B. Early symptoms may include a lump or nodule in the thyroid, difficulty swallowing, hoarseness, or neck pain. Elevated calcitonin levels in the blood serve as a tumor marker and are used for diagnosis and monitoring.

FMTC is caused by mutations in the RET proto-oncogene and is inherited in an autosomal dominant pattern. Genetic testing is crucial for family members of affected individuals, as prophylactic thyroidectomy (surgical removal of the thyroid) can prevent cancer development in mutation carriers. The specific mutation location helps predict disease severity and optimal timing for surgery.

NutraHacker examines the following gene related to Familial Medullary Thyroid Cancer:

• RET

For more information about your own genetic profile as related to Familial Medullary Thyroid Cancer, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.