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Rare Undiagnosed Cancers

Our service also sees patients who come to us with rare undiagnosed disorders. Some of them are “not yet diagnosed” because they have not seen by appropriate medical services, familiar with their condition. Therefore, are unable to provide a test to diagnose their condition. We also welcome patients with previously undescribed conditions, or those for which a diagnostic test is currently unavailable.

Individuals suspected of rare familial cancers should look out for:

  • A young cancer diagnosis, below the age of 50
  • Multiple cancers in the same individual
  • A strong family history of cancer

Some rare cancer conditions that have been successfully diagnosed by our clinic are Birt-Hogg-Dubé. Cowden Syndrome, Li Fraumeni, Fanconi Anaemia, Von Hippel Lindau, to name a few.

How can I get a diagnosis for my cancer?

Our clinical arm works closely with our Familial and Rare Cancers Research Programme to provide patients and their families answers, and hopefully a diagnosis. For these individuals, we emphasize on genetic testing and genomic profiling to guide our diagnosis and further referrals for precision medicine treatments.

If your personal or family history of cancer is suggestive of familial cancer that has yet to be diagnosed, please talk to your doctor. A referral to the CGS can help you find out more.