Family Cancer Clinic

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:

• Several first-degree relatives (mother, father, sisters, brothers, children) with cancer, especially if they’ve had the same type of cancer.
• Cancers in your family that are sometimes linked to a single gene mutation (for instance, breast, ovarian, and pancreatic cancer).
• Family members who had cancer at a younger age than normal for that type of cancer.
• Close relatives with rare cancers that are linked to inherited cancer syndromes.
• A physical finding that is linked to an inherited cancer (such as having many colon polyps).
• A known genetic mutation in one or more family members who have already had genetic testing.

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:

• Limited answers: Genetic tests do not give precise answers about inherited diseases, especially about breast and colon cancer. A positive test result does not always mean you will get the disease. The test can tell what might happen, but it cannot tell what will happen. On the other hand, a negative result does not mean you have no risk of getting the disease.
• Psychological or emotional impact: Many people are anxious even before they get their test results. They may think about how the result might affect them and their families, and how they can talk about and manage the information. Learning that you have or might develop a serious disease can be frightening. The person being tested may find it even more upsetting if family members have already died of the disease in question. A positive genetic test result can also affect other family members. More family members may need to be tested. In some cases, more medical tests or procedures may have to be done as a result of genetic testing.
• Privacy issues: Most people who ask about the privacy of genetic information are concerned about how the information may be used in ways that can harm them.

What is involved in attending the clinic?

• You will need a referral from your doctor to the clinic. All family relatives attending who are blood relatives (your side of the family) will need referrals from their GPs (see referral information).
• You will be asked to provide information about your own and your family's medical history.
• You and certain family members will be asked to sign consent forms to allow us to get medical details about the cancers in the family.
• You will be offered an appointment with a genetic counsellor and a genetic oncologist.
• You will be asked to allow your family’s information to be entered into a database for research purposes - all information that you and your family provide is kept confidential.
• You will be asked to sign a consent form to perform the genetic testing. 
• Blood will be taken from you for the genetic testing. You will be called in for a follow-up appointment once the results are available (that can take several months).
• If the results of the test are positive, you have a mutated gene (or genes) that may place you at risk. Your risk of developing the cancer will be discussed in light of the fact that you have the mutation. It will
• You will be given information regarding treatments available if you have a genetic mutation found.
• You may be contacted in the future about clinical studies.

What questions can the Cabrini Family Cancer Clinic help me answer?

• What does my family history of cancer mean for my cancer risk?
• If there is an inherited gene fault in my family, will I definitely get cancer? Why do some people with the gene fault develop cancer while others do not?
• How can I cope better with cancer and cancer risk?
• How can I communicate with my family about the risk of cancer?
• How does my lifestyle interact with my family history to cause or prevent cancer?
• How can we use our new knowledge to help prevent cancer and improve cancer treatments?

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:

• Patient name
• Patient identifiers: date of birth and Medicare number
• Patient contact details
• Copy of the cancer histopathology report

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:

• Breast cancer under age 35
• Male breast cancer
• Multiple primary tumours (excluding lung and skin) under age 70 (e.g. breast and ovarian, fallopian tube, primary peritoneal, endometrial and colorectal cancer)
• Colorectal cancer under age 40
• Rare tumour (phaeochromocytoma, paraganglioma, sarcoma, glioblastoma, choroid plexus carcinoma, adrenal cancer, retinoblastoma) under age 45

Family history characteristics:

• Blood relative of a known carrier of a mutation in a high-risk breast cancer predisposition gene (eg BRCA1, BRCA2)
• Blood relative of a known carrier of a mutation in a high-risk colorectal cancer predisposition gene (e.g. APC, MYH, MLH1, MSH2, MSH6, PMS2)
• Blood relative of a known carrier of mutation in other high-risk predisposition genes (e.g. TP53, PTEN, VHL, SDHA, B, C or D, and NF2)
• Personal or family history of breast or ovarian cancer, and Ashkenazi Jewish ethnicity
• Two or more first- or second-degree relatives on the same side of the family with CRC or endometrial cancer with one diagnosed under age 50
• Two or more first- or second-degree relatives on the same side of the family with either breast cancer under age 50 and/or ovarian cancer at any age
• Rare tumour (phaeochromocytoma, paraganglioma, sarcoma, glioblastoma, choroid plexus carcinoma, adrenal cancer, retinoblastoma) at any age and a close relative with similar tumour

Tumour pathology characteristics:

• Epithelial ovarian, fallopian tube or primary peritoneal cancer ≤70 years
• Triple negative breast cancer (TNBC) ≤40 years at diagnosis (TNBC: oestrogen, progesterone and HER2 receptor negative)

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.

http://www.nature.com/nrc/journal/v4/n3/fig_tab/nrc1301_T1.html