Gardner syndrome (see Lynch syndrome or FAP)

Gardner syndrome

Gardner syndrome is an old term. It was used to describe families with polyps or colon cancer who also had skin problems.

It is named after Dr Eldon John Gardner who publish a paper in the American Journal of Human Genetics in 1951 describing a family with multiple bowel polyps (adenoma) and osteofibromas.

It is no longer used as it describes the clinical features of 2 hereditary cancer syndromes that have very different genetic causes and different cancer risks:

  • Lynch syndrome
  • Familial Adenomatous Polyposis syndrome

In Lynch syndrome the skin lesions are sebaceous adenocarcinomas of the skin and there is also a high risk of colon (bowel), uterine, ovarian and other digestive tract cancers.

By contrast, in Familial Adenomatous Polyposis syndrome individuals present with skin lumps such as epidermoid cysts or lipomas, desmoids (tumour of the connective tissues) and osteomas (benign bone growths, often found in the jaw). In this syndrome, hundreds or even thousands of polyps may occur in the bowel from a very young age and the lifetime risk of colon cancer is 100% if nothing is done to reduce the risk.

Read more about Lynch syndrome and Familial Adenomatous Polyposis syndrome

Is Gardner syndrome inherited?

Yes. Gardner syndrome is a clinical description of two hereditary cancer syndrome: Familial Adenomatous Polyposis syndrome (caused by a mutation in the APC gene) and Lynch syndrome (caused by a mutation in one of the mismatch repair genes).

There is a 50% chance of a person who carries a germline mutation, whether male or female, passing the mutation to their son or daughter. If a mutation is identified, then predictive testing is available for blood relatives and would be Medicare Funded

You can download a printable version of the Sydney Cancer Genetics’ “Gardner syndrome” information page