Endocrine Tumor Genetics Program

The Endocrine Tumor Genetics Program helps to identify and provide comprehensive, coordinated medical care for families that have a hereditary risk for endocrine tumors. Our program is a collaboration between the Center for Cancer Risk Assessment (CCRA) and Thyroid Associates at Massachusetts General Hospital, and includes specialists in both endocrinology and genetics.

Patients with pathogenic variants in hereditary endocrine tumor genes are managed comprehensively with our team of endocrinologists and genetic counselors. We also provide risk assessment for patients interested in an evaluation for hereditary endocrine tumors. During the initial genetics consultation, family history is carefully reviewed. If your personal or family history suggests a possible genetic risk, we will discuss the option of genetic testing.

Should You Consider Genetic Counseling?

Our program is appropriate for any individual that has a pathogenic variant in an endocrine tumor predisposition gene. It may also be right for you if you have a personal or family history of endocrine tumors in one or more of the following organs:

• Pancreas
• Thyroid gland
• Parathyroid glands
• Pituitary gland
• Adrenal glands

Hereditary Endocrine Cancer Diseases

The syndromes most commonly discussed with patients in our program include:

• Multiple Endocrine Neoplasia, type 1 (MEN1): People with MEN1 can develop tumors in the parathyroid glands or pituitary gland, or endocrine tumors of the gastrointestinal tract (e.g. pancreatic neuroendocrine tumors). The gene responsible for this syndrome is also called MEN1.
• Multiple Endocrine Neoplasia, type 2 (MEN2): People with MEN2 have a mutation in the RET gene. This syndrome can cause specific cancers of the thyroid called medullary thyroid carcinoma. Some families are also at risk for tumors in the adrenal and parathyroid glands.

We also may discuss other syndromes based on your clinical and/or family history. These include:

• Cowden syndrome
• Jaw tumor-hyperparathyroidism syndrome
• Hereditary pheochromocytoma/paraganglioma syndrome
• Familial hyperparathyroidism
• Von Hippel-Lindau syndrome (see the FRCC/VHL Program)

View our library of fact sheets about inherited cancer risk and genetic testing.