The Cabrini Family Cancer Clinic provides cancer risk assessment, cancer surveillance advice and, in some cases, genetic testing for hereditary cancer syndromes. Patients can self-refer or be referred by their GP or specialist if concerned about their cancer risk, or the risk for other family members when cancers, such as bowel and breast cancer, are diagnosed in the family.
General Inquiries |
Phone: (03) 9508 3419 |
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Contact | lmckay@cabrini.com.au | |
Operating Hours |
Monday - Friday |
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Referral |
Required. For Patients | For GPs |
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The Cabrini Family Cancer Clinic offers hereditary cancer risk assessment by specialist genetic counsellors and oncologists for people concerned about their personal or family history of cancer. We aim to help people come to decisions about managing their risk of cancer with preventative and early detection strategies.
What is genetic testing?
Genetic testing is the process of using medical tests to look for changes (mutations) in a person’s genes or chromosomes known to increase the risk for a certain cancer. Hundreds of different genetic tests are used today, and more are being developed. Cancer-related genetic tests are most commonly done as predictive genetic tests.
Who should have genetic testing?
If you are concerned about your family’s health history, or other cancer risk factors, you may want to talk to your doctor about whether to have genetic testing. Doctors will sometimes suggest patients have genetic testing if others in their family have had a certain disease or certain patterns of disease. If you have any of the following, you might consider genetic testing for yourself:
What are the benefits of genetic testing?
The obvious benefit of genetic testing is the chance for a better understanding of your risk for a certain disease. Testing is not perfect, but it can often help you make decisions about your health.
A negative result on a genetic test in families at risk for a specific cancer may help relieve anxiety or uncertainty. In the same way, a positive result can help you make important decisions about your future, perhaps including things you can do to help lower your risk. A positive result may also lead to finding disease earlier, when treatment is more likely to be helpful.
For people already diagnosed with cancer, genetic testing of the tumour can often help determine the prognosis (outlook), and can sometimes even help in deciding which treatments will most likely work. As scientists learn more about the genes that contribute to cancer, genetic testing will probably become more helpful in learning about a person’s cancer risk.
What are the drawbacks of genetic testing?
Genetic tests have several potential problems you should think about before being tested:
What is involved in attending the clinic?
What questions can the Cabrini Family Cancer Clinic help me answer?
Your privacy is respected
Keeping information private is an important priority of Cabrini Family Cancer Clinic. If you agree to participate in a research study, some of your information will be shared with science researchers. However, your name will never be used without your permission, and you can withdraw at any time.
It is important that doctors accurately assess a patient’s personal and family history of cancer to identify those who need a referral to a family cancer clinic. Family cancer clinics will estimate an individual’s cancer risk, and provide advice on risk-reduction strategies and the relevance of genetic testing.
There are two stages to genetic testing:
Mutation search: This will usually involve testing a blood sample from an affected family member in the first instance. This test determines whether a gene mutation that causes the increased risk of cancer for that family can be identified.
Predictive test: This is only available to family members when a mutation has already been found in a mutation search. This test determines whether or not the patient actually has the family gene mutation.
Patient triage will be rapid and subsequent counselling and testing done in a timely fashion. The referral must include the following:
Who to refer?
All of the people who fall into the categories below warrant a referral to a family cancer clinic for genetic counselling and risk management advice:
Individual characteristics:
Family history characteristics:
Tumour pathology characteristics:
More than 50 hereditary cancer syndromes have been described. The majority of these are caused by highly penetrant mutations that are inherited in a dominant fashion. The list below includes some of the more common inherited cancer syndromes for which genetic testing is available, the gene(s) that are mutated in each syndrome, and the cancer types most often associated with these syndromes.
Syndromes |
Genes |
Related Cancers |
Hereditary breast cancer and ovarian cancer syndrome |
BRCA1, BRCA2 |
Female breast, ovarian, and other cancers, including prostate, pancreatic, and male breast cancer |
Li-Fraumeni syndrome |
TP53 |
Breast cancer, soft tissue sarcoma, osteosarcoma (bone cancer), leukaemia, brain tumours, adrenocortical carcinoma (cancer of the adrenal glands), and other cancers |
Cowden syndrome (PTEN hamartoma tumour syndrome) |
PTEN |
Breast, thyroid, endometrial (uterine lining), and other cancers |
Lynch syndrome (hereditary nonpolyposis colorectal cancer) |
MSH2, MLH1, MSH6, PMS2, EPCAM |
Colorectal, endometrial, ovarian, renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain, and breast cancers |
Familial adenomatous polyposis |
APC |
Colorectal cancer, multiple non-malignant colon polyps, and both non-cancerous (benign) and cancerous tumours in the small intestine, brain, stomach, bone, skin, and other tissues |
Retinoblastoma |
RB1 |
Eye cancer (cancer of the retina), pinealoma (cancer of the pineal gland), osteosarcoma, melanoma, and soft tissue sarcoma |
Multiple endocrine neoplasia type 1 (Wermer syndrome) |
MEN1 |
Pancreatic endocrine tumours and (usually benign) parathyroid and pituitary gland tumours |
Multiple endocrine neoplasia type 2 |
RET |
Medullary thyroid cancer and pheochromocytoma (benign adrenal gland tumour) |
Von Hippel-Lindau syndrome |
VHL |
Kidney cancer and multiple non-cancerous tumours, including pheochromocytoma |
Carney Complex |
PRKAR1A |
Skin pigment abnormalities, endocrine tumours, schwannomas |
Familial Melanoma |
CDKN2A, CDK4 |
Cutaneous malignant melanoma, pancreatic cancer |
Hereditary Papillary Renal Cancer |
MET |
Papillary renal cell carcinoma |
Hereditary Diffuse Gastric Cancer |
CDH1 |
Diffuse adenocarcinomas of the stomach wall |
Juvenile Polyposis Coli |
MADH4 |
Multiple adenomatous polyps in the gastrointestinal tract, colorectal and gastrointestinal malignancies |
Naevoid Basal Cell Cancer |
PTCH |
Basal cell carcinomas |
Neurofibromatosis Type 1 |
NF1 |
Neurofibrosarcomas, astrocytomas, melanomas, rhabdomyosarcomas, chronic myeloid leukaemia |
Neurofibromatosis Type 2 |
NF2 |
Bilateral vestibular schwannomas, meningiomas, spinal tumours, skin tumours |
Peytz-Jeghers |
STK11 |
Gastro-intestinal carcinomas, breast carcinoma, testicular cancer, gynaecologic malignancies |
Phaeochromocytoma |
SDHB, SDHC, SDHD |
Pheochromocytoma, glomus tumours |
Tuberous Sclerosis Complex |
TSC1, TSC2 |
Multiple hamartomas, renal cell carcinoma, astrocytomas |
http://www.nature.com/nrc/journal/v4/n3/fig_tab/nrc1301_T1.html