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Family History of Breast Cancer / Gene Testing

The Familial Cancer Clinic will see patients who have a strong family history of breast cancer or patients where there is known mutation in cancer risk genes.  This will allow a risk assessment and determinate if genetic consultation plus or minus genetic testing is required.

Referral to the Familial Cancer Clinic should be undertaken in families where there has been any male with breast cancer; where there has been any woman with high-grade ovarian, fallopian, peritoneal cancer (non-mucinous); where breast cancer has presented at less than 30 years of age or HER2-positive breast cancer at less than 35 years of age; in patients who have a triple-negative breast cancer, either less than 50 years of age or triple-negative breast cancer at any age if they also have a close relative with breast or ovarian cancer; anyone who has had a bilateral breast cancer where the first breast cancer was less than 50 years of age; a woman with breast cancer who has a family history of a close relative  with breast cancer where one is less than 40 years of age or one is male or one is bilateral or both cancers occurred less than 50 years of age, two or more close relatives with breast cancer, a close relative with sarcoma or brain or adrenal cancer where one is less than 46 of age and one is less than 56 of age; and any patient with Ashkenazi Jewish ancestry with breast or ovarian cancer.

Breast cancer is a very common disease in women and about 1 in 10 women will develop breast cancer in Australia at some point in their life, most commonly in an older age.  Most women with breast cancer do not have a family history of breast cancer. 

Having a family history of breast cancer does not necessarily mean there is a high risk of other women in the family developing breast cancer.  Approximately  4% percent of the female population in Australia have a moderately increased risk of developing breast cancer and 1% of the female population in Australia have a high risk.

If the Familial Cancer Clinic considers that there may be some genetic contribution to a patient’s breast cancer, genetic testing may be offered.  Genetic testing involves taking a blood test to look for fault (mutations in high risk genes that cause breast cancer). 

A test funded by the government will be offered to patients who are assessed to have at least 10% probability of having a mutation.  Testing criteria are outlined at 

Patients who wish to undergo a non-funded test (self-fund), genetic testing can be assessed privately.  This can be obtained through a laboratory genetics technology, free call 1800-822-999, 

In general, risk assessment is undertaken to define a patient’s risk of breast cancer.  If the patient has shown to be at average risk of breast cancer with a lifetime risk of breast cancer of approximately 12%, mammograms every 2 years from the age of 40 are recommended.  If they have moderate risk of up to 30%, so approximately 3 times the population risk, mammograms yearly from 40 years of age is suggested.  There may be a consideration of using risk-reducing medication ( eg- Tamoxifen).  High-risk patients who have a greater than 30% likelihood of lifetime risk of breast cancer will receive specific advice from the genetics clinic once genetic testing is undertaken.  Patients who have greater than 20% lifetime risk of breast cancer may consider MRI surveillance.