Genetic screening for thyroid and endocrine cancer

Until several decades ago, the link between cancer and genetics remained vague. However, in recent years the genetic tendency to develop this disease has become clearer to research, and it is now known that certain people are at greater risk of developing this disease.

This article will discuss hereditary thyroid and endocrine cancer. However, it should be noted that there are several other types of hereditary cancer, such as colorectal cancer, breast cancer, and more.


What is the endocrine system?

The endocrine system comprises several glands, called endocrine glands. These produce hormones and release them into the blood stream to activate different target organs.

The hormones produced by the endocrine glands regulate various body functions, such as metabolism. These glands include: 

  • pancreas
  • testes
  • ovaries
  • adrenal
  • thymus gland
  • parathyroid
  • thyroid
  • pituitary gland
  • pineal


Multiple Endocrine Neoplasia

Multiple Endocrine Neoplasia type 1 (also known as MEN1) is a rare condition that occurs in both women and men. This condition can occur at any age and is caused by mutations in the MEN1 gene.

Diagnosing this gene mutation may prove difficult. Even when diagnosis is possible, it is considered expensive and may take many months due to its complexity. People who suffer from a MEN1 gene mutation are at an increased risk for developing duodenal, pancreatic, adrenal, and parathyroid tumors.

Multiple Endocrine Neoplasia type 2 (MEN2) is a disorder that causes tumors in the endocrine glands such as the thyroid and parathyroid glands. This condition can be detected by a simple genetic screening test. The disorder is caused by a mutation in the gene RET. People with this gene mutation are at an increased risk for developing various types of cancer.


MEN2 screening guidelines – who is the test recommended to?

There is consensus today that RET gene mutations should be screened for in the following cases:

Patients suffering from Pheochromocytoma (a benign tumor of the adrenal gland)

Patients suffering from MTC – medullary thyroid carcinoma

Patients suffering from Hirschsprung disease

These criteria hold for patients with a family history of this condition and those without a family history.

Genetic screening comprises several stages but when the relevant gene mutation is detected, it is important to continue screening other close relatives including children, parents, siblings, and cousins. The age suitable for screening in younger relatives is determined according to the type of mutations (there are over twenty RET gene mutations known today).

In addition, those with a close family history of several relatives developing tumors in multiple organs or at a young age, are themselves at an increased risk for MEN2.


Gene mutations and thyroid cancer

There is a significant link between the type of gene mutation and tumor aggressiveness. For this reason, the type of mutation must be considered when deciding on prophylactic treatment such as thyroidectomy (surgery for removing the thyroid).

For instance, mutations linked to MEN2B disorder are characterized by tumors at a very young age. In these cases, prophylactic thyroidectomy is recommended prior to 6 months of age, and in some cases prior to 1 month of age.

Other mutations require surgery prior to age 5, or age 10. Certain physicians and researchers recommend a careful and close monitoring of symptoms for early detection of diseases, instead of prophylactic surgery.

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