Who should be referred?

We are happy to see anyone who is concerned about their own risk or their family’s risk of cancer, whether they personally have had cancer or not.

To aid with referrals, you can download our Family History Questionnaire, ask your patient to complete it and return later to discuss the cancer history with you.

The following family histories are NOT likely to be related to an inherited cancer syndrome.

  • 3 relatives with breast cancer in the 60s or older
  • A mix of bladder, lung and throat cancer in the 50s or older
  • Melanoma and other skin cancers in the 50s or older

Instead they are likely to be related to longevity, environmental or lifestyle factors such as smoking or diet. These families should follow population based screening and healthy lifestyle advice.

Cancer is common, particularly over the age of 60. However, some family histories are suggestive of a familial cancer syndrome. Features include but are not limited to:

  • Breast: diagnosis <40; bilateral breast cancer; male breast cancer; "triple negative" pathology
  • Bowel: diagnosis <45; also a history of uterine cancer; loss of MMR IHC staining
  • Bowel polyps:>3 polyps under 30; > 20 polyps lifetime; rare type of polyp
  • Melanoma: unusual location eg uveal or very young onset
  • Ovarian:all women with a high grade epithelial, non mucinous, ovarian cancer
  • Renal cancer: diagnosis < 40; rare pathology type (eg papillary, chromophobe, oncocytoma)
  • Rare cancers (eg pheochromocytoma, paraganglioma, adrenocorticocarcinoma)
  • Rare pathology of more common cancers (eg medullary thyroid cancer; diffuse gastric cancer)

Note: unaffected but at-risk relatives may also wished to be referred, if their relative has died without testing and had a triple negative breast cancer, ovarian cancer, a young onset or a rare cancer type. Tumour samples are stored for around 15yrs, allowing tumour testing to be performed in some cases.

Detailed guidelines on cancer genetic referrals can be found on the Cancer Institute’s eviQ website.

You can also download a one page referral summary.

Also see our NEWS tab for details on Rare Cancers and Medicare funded BRCA testing

Posted in: For Drs