Appropriate to offer genetic counselling to women with a high familial risk at or around the time that they are diagnosed with breast cancer, with a view to genetic testing to inform decision-making about treatment.

Genetic testing
familial risk
family history


Around 5 % of all breast cancer diagnoses in Australia (or an estimated 796 new cases in 2016) are associated with the inheritance of a mutated gene.  Women are considered to be at potentially high familial risk of breast cancer if they have a number of blood relatives on the same side of the family diagnosed with breast or ovarian cancer, especially if these relatives were diagnosed at a young age.

Genetic counselling and, if appropriate, genetic testing, aims to assess if a breast cancer diagnosis is due to an inherited mutation.  Implications of test results for the individual patient, including decision-making about breast cancer treatment, and their family are also then able to be discussed.

Value to patients

The identification of women at potentially high familial risk at or around the time of their breast cancer diagnosis is important to help them to make informed decisions about their breast cancer treatment, as well as surgical options for reducing their risk of further developing breast or ovarian cancers. 

Supporting evidence

Cancer Australia.  Recommendations for the management of early breast cancer in women with an identified BRCA1 or BRCA2 gene mutation or at high risk of a gene mutation. 2014 Surry Hills, NSW.

Meiser B, Gleeson M, Watts K et al. Getting to the point: what women newly diagnosed with breast cancer want to know about treatment-focused genetic testing. Oncology Nurses Forum. 2012;39(2):E101-11.

Meiser B, Tucker K, Friedlander M, et al. Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda. Breast Cancer Research. 2008;10(6):216.

Trainer AH, Lewis CR, Tucker K, et al. The role of BRCA mutation testing in determining breast cancer therapy. Nature Reviews Clinical Oncology. 2010;7(12):708-17.