Rare cancers – when to refer to genetics

A recent article was published by Kimberly Banks et al, in Familial Cancer (see Familial Cancer 2013;12:1-18) that listed the top 10 rare tumours that warrant a genetics referral.

 5 to 10% of more common cancers (such as breast or bowel cancers)  are due to inherited mutations in key genes. By contrast, in certain rare tumours, an inherited cause is significantly more likely .  Patients with these rare tumours should be referred to a genetic oncologist or clinical geneticist for assessment, even if there is no family history of cancer.

The tumours include:

  • Adrenocortical carcinoma, especially in children
  • Carcinoid tumours of the thymic gland
  • Diffuse gastric cancer, if it occurred under the age of 40 or was associated with a personal or family history of lobular breast cancer
  • Cancer of the fallopian tube or primary peritoneal cancer
  • Leiomyosarcoma with multiple skin leiomyomas (or a family history of skin leiomyomas, multiple uterine fibroids
  • Medullary thyroid cancer
  • A pheochromocytoma or a paraganglioma
  • Kidney cancer or tumour that is of a specific rare histology: chromophobe, hybrid oncoctyotic or oncocytoma.  (If the renal cancer was clear cell, a more common histology, then referral is recommended if it occurred under the age of 40)
  • Sebaceaous carcinoma

The likelihood that the cancer was due to an inheritable mutation in a key gene is more than 25% with most of these rare cancers.  This is important because the patient or their family members may be at risk of other cancers.  Also, many inherited cancer syndromes have proven strategies, such as surveillance or even risk reducing surgery, that can significant reduce the risk of cancer.

If you or a family member has had one of the cancers listed above, speak to your GP about a referral to a familial cancer clinic.

Comments are closed.