Papillary thyroid cancers are rarely hereditary, so you should generally not be concerned about the risk to your children except in the following circumstances. Those individuals which may be at higher risk of developing papillary thyroid cancer include:
  • Those with a family history of papillary thyroid cancer
  • A personal or family history of goiters
  • A history of radiation therapy to the thyroid area such as for: Bone marrow transplantation Mantle field radiation for lymphoma
  • Exposure to high levels of radiation due to nuclear accidents or weapons testing
  • Having a personal or family history of congenital syndromes such as Cowden’s syndrome (a disorder characterized by benign tumors of the skin and mucous membranes called hamartomas)

Papillary Thyroid Cancer Known Associated Genetic Mutations

Papillary thyroid cancer genetic abnormalities have largely been well identified following the human genome project and the cancer genome project. (Nikiforova MN, Nikiforov YE. Molecular genetics and the diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011; 7(10):569-580.)

  • The two most common abnormalities associated with papillary thyroid cancers are the BRAF mutation and RET/PTC1 rearrangements (more commonly associated with the classical papillary thyroid cancer).
  • RET/PTC3 rearrangements also occur but are much less common and associated more commonly with the solid variant of papillary thyroid cancers.
  • Papillary thyroid cancer follicular variants more commonly reveal RAS mutations or PAX8/PPAR gamma rearrangements than the other more classic papillary thyroid cancers.
  • Aggressive papillary thyroid cancer variants are potentially suggested by mutations of the TERT promoter, p53 or PI3kinase. To date, identifying these mutations does not translate to targetable treatment approaches and should not direct therapy above what is seen under the microscope (pathology) and Xray findings.

Types of Genetic Analysis Tests

Sometimes when a nodule is biopsied as indeterminate, it is not clearly benign or malignant. In these cases, your doctor may send the thyroid nodule cells for genetic testing. There are three commercially available genetic testing companies for thyroid nodules. They are called Veracyte (Afirma), Asuragen, and ThyroSeq. They each have their own strengths and weaknesses.

Genetic testing can sometimes lead you to a surgery if a nodule contains one of these specific gene abnormalities. However, genetic testing may not be necessary if surgery is indicated for other reasons. Genetic testing is rarely needed as part of the evaluation in order to perform the correct surgery for each patient.