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Hereditary Endocrine Cancer Syndromes

We help to identify individuals and families with an inherited risk for endocrine tumours, offering them genetic testing, screening and support.

Is my family at risk for hereditary endocrine cancers?

Most endocrine cancer and tumours are not hereditary. The history of cancer in your close relatives is a clue to the risk of hereditary endocrine cancers in your family. Close relatives include: children, brothers and sisters, parents, aunts, uncles, grandchildren and grandparents on one side of the family. A history of cancer in cousins and more distant relatives may also be important.

A hereditary endocrine cancer syndrome is more likely if one or more of the following features can be confirmed in your family:

  • A person with pheochromocytoma diagnosed under the age of 50
  • A person with paraganglioma
  • A person with adeno-cortical adenocarcinoma diagnosed under the age of 40
  • A person with primary pigmented nodular adrenocortical disease (PPNAD)
  • A person with parathyroid adenoma or carcinoma
  • A person with gastrinoma
  • A person with pituitary tumour(s)
  • A person with thyroid cancer
  • A person with two or more endocrine tumours

Examples of hereditary endocrine cancer syndromes seen at CGS include:

  • Multiple endocrine neoplasia type 1 (MEN1): indicated by parathyroid, pituitary and pancreas tumours
  • Multiple endocrine neoplasia type 2 (MEN2): indicated by medullary thyroid cancer, parathyroid and adrenal tumours
  • Hereditary pheochromocytoma/paraganglioma syndrome: indicated by kidney cancer and gastrointestinal stroma tumour (GIST)
  • Von Hippel-Lindau Syndrome: indicated by kidney cancer, brain, spine, adrenal and pancreatic tumours.

How are hereditary endocrine cancer syndromes diagnosed?

Genetic testing for hereditary endocrine cancer syndromes is a blood test that available through the service. Genetic testing is complex, thus, individuals interested in testing will undergo genetic counselling to better understand the condition within the family, their personalised cancer risk and the implications of the genetic test.

If your family history of cancer is suggestive of hereditary endocrine cancer syndrome, please talk to your doctor. A referral to the CGS can help you find out more about hereditary endocrine cancer syndromes and genetic testing.