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Q&A Genetics

Q & A from a Genetic Specialist regarding Genetics and Cancer.

I have a strong family history of breast and/or ovarian cancer, but no gene mutation has been identified in my family. What should I do?
It is recommended that you contact a Family cancer Clinic or genetic service to advise you with a tailor made screening and health management program. It is recommended you have regular breast screening. The starting age for screening changes for each family and depends on the age of diagnosis of cancer in your family. In NSW, the starting age to begin breast screening is 40, unless a relative has been diagnosed with breast cancer aged less than 35yo.

I have a family history of breast/ovarian cancer but no-one is alive who has had cancer. What should I do?
Unless DNA has been stored for a deceased relative who has had cancer, genetic testing is not available to you through the Public Health service. In some situations private testing may be considered but this would cost the person seeking testing.
It is recommended that you contact a Family cancer Clinic or genetic service to advise you with a tailor made screening and health management program.

It is recommended you contact a Family Cancer Clinic or genetic service if your family history changes. If any other relative is diagnosed with cancer, public funded genetic testing may become available for your family.

My mother is very unwell from her treatment for ovarian cancer. She cannot attend a Family Cancer Clinic. What can I do?
You can contact a Family Cancer Clinic to discuss your options. The Family Cancer Clinic can arrange for your mother to have some blood collected for the purpose of storing her DNA, in the first instance. The Family Cancer Clinic can co-ordinate this with her GP, hospital or community nurse. It is better to collect blood from your mother soon in case she becomes more unwell.

I have a strong family history of breast cancer. My aunt is having treatment for her cancer. My other relatives who have had breast cancer are deceased. My Family Cancer Clinic has recommended genetic testing for my family. I do not know how to contact my aunt as I have not seen her for a decade. What should I do?
You should get back in touch with the Family Cancer Clinic and discuss this with them. They will have strategies to help you which may include being in contact with other relatives, who are still in contact with this aunt. These relatives may be able to contact your aunt for you, and raise the possibility of genetic testing with her. Alternatively, one of your relatives may have the contact details for this aunt for you to contact her.

I am adopted. I have been diagnosed with breast cancer when aged 30. What can I do?
It is recommended you talk to your doctor about referring you to a Family Cancer Clinic. If you would like to talk to someone and are not still in contact with a specialist you can ring yourself to discuss your situation. You will be asked for a medical referral at some stage but you can start the process. The Family Cancer Clinic will review your pathology and assess whether genetic testing is possible.

My aunt lives in the UK. She has had a mutation found in the BRCA2 gene. Another relative told me that I might be at risk of developing breast or ovarian cancer. What can I do?
Predictive genetic testing is available to you. It is recommended that you contact a Family Cancer Clinic to discuss predictive testing. If you have received a copy of your aunt’s test report or a letter she or your relative have sent to you, bring this along to your appointment with the Family Cancer Clinic.

I live in rural Australia. I would like to discuss genetic testing with a Family Cancer Clinic but do not know where to go?
You can discuss this with your GP or Community Health Nurse. Your GP can write you a referral to a Family Cancer Clinic/genetic service.
You can also look for your own local Family Cancer Clinic/genetic service at http://www.genetics.com.au/services/canclin.asp

My father had breast cancer when aged 60. His mother also had breast cancer. Do I need to have breast screening?
As it is rare for men to have breast cancer, it is recommended you contact a Family Cancer Clinic for a risk assessment and screening advice.

My mother had breast cancer and then ovarian ca. However, I do not have a family history of this cancer. What should I do?
It is recommended you talk to your doctor about referring you to a Family Cancer Clinic. The Family Cancer Clinic can in some cases, obtain and review the pathology reports of your mother. This can help clarify the screening and management recommendations for you.
The Family Cancer Clinic will also assess your family history, in case there are any other relatives who have had other types of cancer. This information can also help clarify the screening and management recommendations for you.

My mother was diagnosed with breast cancer at age 50. I do not know any relatives in my family, as they live in many countries around the world. My family is Jewish. I have heard that Jewish women are at an increased risk of breast cancer because of a gene. Is this true?
There are specific gene mutations in BRCA1 and BRCA2 genes that can be tested for women and men of Jewish descent. This is known as a founder mutation. There are other populations that also have founder mutations, such as people from Iceland.
It is recommended you talk to your doctor about referring you to a Family Cancer Clinic.

I have four relatives who have had breast cancer but they were all aged over 70 at the time of diagnosis. I have been told my relatives can’t have genetic testing. Can you explain why?
Although you have four relatives diagnosed with breast cancer, there is not a lot of evidence to support doing a gene test of the BRCA1 and BRCA2 genes in your family. The likelihood of finding a mutation in either of these genes is very low. Families, who have been found to have a mutation in either the BRCA1 or BRCA2 genes, usually have several relatives aged fewer than 50 at the time of diagnosis of their breast cancer.

I participated in a breast cancer research study through the kConFab organization. Does this mean I have a breast cancer gene mutation?
This study recruits multiple family members to participate in its breast cancer and ovarian cancer research. Participation does not mean a gene mutation will be identified.
If a gene mutation is identified in any relative of your family through this study, you will need to have a clinical test, organised through a Family Cancer Clinic/genetic service to clarify your own test result. Your personal result will not be given to you through the research study.

I participated in a breast cancer research study through the kConFab organization, eight years ago. I have heard nothing from this study. Does this mean I have a breast cancer gene mutation?
This study recruits multiple family members to participate in its breast cancer and ovarian cancer research. Participation does not mean a gene mutation will be identified.

If you have heard nothing from the study to date, this means that research is still being performed on your family. Some families may never hear about their family results, if nothing is found that can help you clarify your risk of breast and ovarian cancer.

If you elected on your consent form not to be contacted, then kConFab research will not contact you about your family results. If you have now changed your mind, and would like to know about your family results, contact the kConFab research study nurse or centre, where you were first recruited.