Recommendations on genetic testing for ovarian cancer

A new position statement from Cancer Australia recommends that all women diagnosed with invasive epithelial ovarian cancer be offered assessment of their genetic risk, regardless of their age or family history.


Cancer Australia’s Position Statement on genetic testing for women diagnosed with ovarian cancer provides evidence-based guidance for health professionals on appropriate referral for genetic assessment and genetic testing for women with ovarian cancer.


Gene faults are common in women with ovarian cancer, and are found in around 1 in 7 women diagnosed. For women with ovarian cancer and a family history of breast or ovarian cancer, this proportion increases to around 2 in 5.


Cancer Australia CEO, Dr Helen Zorbas, said the position statement had been developed to help inform treatment decisions and risk management options for women diagnosed with ovarian cancer.


“BRCA1 and BRCA2 gene mutations are the most common gene faults associated with breast and ovarian cancer. We know that women with ovarian cancer who are found to carry these gene mutations could benefit more from certain types of targeted therapies,” Dr Zorbas said.


“So it is very important that eligible women are offered genetic risk assessment and genetic testing.


“Genetic testing is an important consideration for women diagnosed with ovarian cancer even if they have no known family history of breast or ovarian cancer, as these women can still have a heritable gene fault.”


The position statement also recommends that, if a heritable mutation is identified in a woman with ovarian cancer, relevant family members be offered referral for genetic counselling and testing for that gene mutation.


“Family members found to carry the mutation could be at significant risk for breast or ovarian cancer, and should be offered management options such as risk-reducing strategies and surveillance. However, if the gene mutation is not detected in the family member, they can usually be reassured and avoid unnecessary surveillance and intervention,” Dr Zorbas said.


“Medicare now funds genetic testing for the BRCA1 and BRCA2 gene mutations for women with breast or ovarian cancer who have a high probability of having a faulty gene. The genetic test is also funded for relevant family members of women who are found to have a gene fault.”


Around 31 women are diagnosed with ovarian cancer in Australia each week, and it is the most common cause of gynaecological cancer death. Women diagnosed with ovarian cancer in Australia have a 44% chance of surviving for 5 years.


The “Position Statement on genetic testing for women diagnosed with ovarian cancer” is endorsed by the Australian Society of Gynaecologic Oncologists, the Human Genetics Society of Australasia, the Medical Oncology Group of Australia, Ovarian Cancer Australia, and the Royal College of Pathologists of Australasia.


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31 January 2018.