Multiple Endocrine Neoplasia Type 2 (MEN2)

Who should undergo genetic testing for MEN2?

You should consider genetic testing if you or your family members meet one or more of the following criteria:

• Medullary thyroid cancer
• Paraganglioma or phaeochromocytoma
• Family history of any of the above
• Family members who have been previously identified to have MEN2

How can your genetic test result help you?

1. Personalised management
   In individuals who are diagnosed with medullary thyroid cancer, genetic testing is important to determine if the cause of it is sporadic (spontaneous) or hereditary.
   
   If the cause is hereditary:

   • Genetic testing can confirm the correct genetic diagnosis and help guide surveillance and medical management based on the risks associated with the particular condition.
   • Surveillance can help detect tumours and cancer at an early and manageable stage, and avoid irreversible or serious medical complications.
   • Surgery can be advised in some cases to reduce your risk of tumours/cancer.
   • Reproductive options may also be available for individuals planning a family.

   
   It is important to identify the type of faulty RET gene you may have, as the various types carry different tumour/cancer risks which would affect how doctors plan for your medical management.

2. Familial implications
   Your genetic test result can also help you understand if other family members are at risk of MEN2. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.
   
   Family members who have inherited the same faulty RET gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).
   
   Family members who did not inherit the faulty RET gene can avoid unnecessary screening and worry. Their children will also not be at risk.