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Cancer Genetics Referral Guidelines
Inherited cancer syndromes are rare but being a mutation carrier can significantly increase cancer risk.
Much of this risk can be reduced or eliminated through screening and/or risk reducing surgery. Your
patient may be a risk of other cancers and their family may also be at increased risk. As it is not possible nor
necessary for every patient with cancer to have a full, specialist review, the following may help.
A patient, regardless of family history, would be eligible for publicly funded testing if they had:
 Triple negative breast cancer diagnosed <50
 Ovarian cancer (high grade serous, endometrioid or clear cell) diagnosed < 70
 Jewish heritage and a history of breast, ovarian or multiple early onset prostate cancers
 Male breast cancer <60
 Loss of MMR IHC staining of colon cancer (and, if loss of MLH1, also BRAF negative)
 A blood relative of a person with a known mutation in a high risk cancer predisposition gene
A patient who has had cancer and has a 10% pretest likelihood of a mutation in cancer predisposition
syndrome gene is usually considered eligible for publicly funded testing. While risk models, such as the
Manchester score, can be used, the following patients are likely to qualify:
 A personal and family history of breast and ovarian cancer
 Rare cancers, especially if diagnosed <45. (see )
 A personal history of multiple cancers (excluding lung and skin cancers), especially if <60.
 A personal history of cancer and syndromal phenotype (eg buccal freckling, certain skin lesions)
 Bowel polyps: of a rare type OR > 3 before 30yr OR >25 to 30 after 50yr.
The following patients are NOT likely to have an inherited cancer syndrome. The most likely explanation
for the cancers in these families is either environment, lifestyle, longevity or multiple genes of modest
effect (for which genetic testing is not yet clinically available)
 3 relatives with breast cancer in the 60s or older
 A mix of bladder, lung, basal or squamous cell skin cancers or throat cancer at age 50 or older
Public or private?
Individuals and families can be referred to a public familial cancer clinic (see or to a private service such as Sydney Cancer Genetics.
 Wants a private service
 Not eligible for publicly funded test but still high likelihood (eg triple negative breast cancer at 52 or
ovarian cancer at 72 and no family history) and would consider self-funding a genetic test.
 Not eligible and low likelihood but not reassured after discussion with GP.
 Long wait time and not sure if meets criteria for publicly funded testing. Sydney Cancer Genetics
bulk bills consults for Telehealth eligible patients and provides risk management advice. After
assessment, patients for whom testing is indicated can be referred to a public service if they wish.
 Not able/ willing to self-fund genetic test, especially if will be seen in a reasonable time frame
Referrals to Sydney Cancer Genetics should be addressed to Dr Hilda High and can be sent via fax, email or
Mail (details below). More information, including family history questionnaires can be found on our
website or the eviQ GP FactSheet Cancer Genetic (see ). To discuss a particular patient or family, please call us on 02 8964 9977.
Clinics at Ultimo and Wahroonga. Telehealth to rural and regional Australia
All Correspondence: PO Box 845, Broadway, NSW, 2007
All appointments: (+61 2) 8964 9977 Fax: (+61 2) 8095 9421 E:[email protected]
Hereditary Health and Hope