Breast cancer

Genetic testing now recommended for all women with ovarian cancer


All women diagnosed with invasive epithelial ovarian cancer should be offered genetic testing for BRCA mutations to inform their treatment decisions and also to provide risk management advice for family members, a new position statement from Cancer Australia recommends.

The position statement reflects the “mainstreaming” of genetic testing and the fact that BRCA1 and BRCA2 gene mutations are the most common gene faults associated with breast and ovarian cancer, says Cancer Australia CEO, Dr Helen Zorbas.

Heritable BRCA1/2 mutations are found in around 1 in 7 women diagnosed with ovarian cancer, and in almost 40% of  those with a family history of breast or ovarian cancer, she notes.

“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 says.

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

Women with a BRCA1/2 mutation benefit most from the use of PARP inhibitors as maintenance therapy in platinum-sensitive relapsed ovarian cancer, the position statement notes.

It 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 says.

“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.”

In its practice points, the statement suggests it is best practice for genetic testing to be ordered by a clinician experienced in interpreting the results.

Testing for BRCA1/2 heritable mutations  is now being mainstreamed into routine cancer care, where pre-test counselling and informed consent  can be done in specialist gynaecological cancer services with access to appropriatelytrained health professionals, the position statement notes.

The Position Statement is endorsed by the Australian Society of Gynaecologic Oncologists, the Medical Oncology Group of Australia, the Human Genetics Society of Australasia and the Royal College of Pathologists of Australasia.

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