Who should be referred?
Inherited cancer syndromes are uncommon but being a mutation carrier can significantly increase cancer risk. Much of this risk can be reduced through screening and/or risk reducing surgery. Also, your patient may be at risk of other cancers and their family may also be at risk.
The following family histories are NOT likely to be related to an inherited cancer syndrome:
- 3 relatives with ER+ 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
Cancer is common, particularly over the age of 55. The cancers in the families described above are likely to be due to longevity in a large family and/or environmental or lifestyle factors such as smoking or sun exposure. Individuals in these families should follow population-based screening and healthy lifestyle advice.
How to recognise a high risk individual or family?
- A blood relative of a person with a known mutation in a high risk cancer predisposition gene
A patient, regardless of family history or their current age, should be referred if:
- Triple negative breast cancer diagnosed <50. (Likely Medicare funded, especially if other family history)
- Any newly diagnosed triple negative breast cancer (as it may alter chemo and/or surgery choice)
- Male breast cancer. (Likely Medicare funded if diagnosed <60 or if other family history)
- Breast cancer diagnosed <40.
- Bilateral breast cancer with first diagnosis under 50.
Ovarian and endometrial cancers:
- Ovarian cancer: high grade serous (Medicare funded if diagnosed at 60 or under)
- Ovarian cancer: high grade endometrioid or clear cell (Likely Medicare funded if other family history)
- Endometrial cancer and a personal and/or family history of colon cancer (Medicare funded)
Colon cancer or polyps
- Loss of staining on MMR IHC testing (Medicare funded)
- Bowel polyps: either of a rare type, > 3 polyps before 30 or > 20 polyps if over age 50 (may be Medicare funded)
- Colorectal cancer diagnosed before age 50.
- Jewish heritage and a history of breast, ovarian, prostate or pancreatic cancer
- Rare cancers and tumours, especially if diagnosed <45. This would include pheos, paraganglioma, medullary thyroid cancer, diffuse gastric cancer and many others.
- A personal history of multiple cancers (excluding lung and skin cancers), especially if <55.
- A personal history of cancer and syndromal phenotype (eg buccal freckling, certain skin lesions)
- Loss of staining on IHC tumour testing (eg SDH, MMR, FH etc).
- Adenocarcinoma of the pancreas
- Metastatic prostate cancer
- 3 2 1 rule: Three closely related blood relatives, same cancers, one diagnosed under 50.
Unlike many public clinics, Sydney Cancer Genetics sees individuals who may not fit the standard high risk criteria.
Also, Sydney Cancer Genetics always bulk bills genetic testing if the patient meets the Medicare criteria.