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Cancer Australia recommends that women newly diagnosed with invasive epithelial ovarian, fallopian tube or primary peritoneal cancera, regardless of their age or family history should be offered assessment of their genetic risk. It is recommended that women with a previous diagnosis of invasive epithelial ovarian cancer be offered assessment of genetic risk at their next follow-up visit. 

Based on this assessment of risk, genetic testing for a heritable mutationb should be considered.

BRCA1 and BRCA2 heritable mutations

A woman with invasive epithelial ovarian cancer should be offered genetic testing for a heritable mutation in BRCA1 or BRCA2, if she meets any of the following criteria:
  • has high grade (Grade 2 or 3) invasive non-mucinous ovarian cancer, diagnosed at 70 years or younger.
  • has invasive non-mucinous ovarian cancer at any age, with a personal history of breast cancer, or a family history of breast or ovarian cancer.
  • is from a population where a common founder mutation exists, such as the Ashkenazi Jewish population.
  • is assessed as >10% chance of having a BRCA1/2 mutation, using a prediction tool (such as BOADICEA, BRCAPRO or Manchester score).
  • has relapsed platinum- sensitive ovarian cancer, is a candidate for treatment with PARP inhibitors and meets MBS criteria.

Lynch syndrome

  • For a woman with invasive epithelial ovarian cancer who has a personal or family history of endometrial, colorectal or other cancer suggestive of Lynch syndrome, tumour tissue should be tested for Lynch syndrome abnormalities.
  • If an abnormality associated with Lynch syndrome is identified in the tumour, genetic testing for a heritable mutation in a DNA mismatch repair gene should be offered.

Genetic counselling for women with ovarian cancer

  • Before genetic testing for a heritable mutation, information should be provided on the possible outcomes and implications of genetic testing, including opportunities for personalised treatment decisions. 
  • After genetic testing for a heritable mutation, referral to a specialised genetic service should be offered:
     - if a heritable mutation or a variant of uncertain significance is identified, for post-test genetic counselling. 
     - if a woman has a significant family history regardless of genetic test results, for further familial cancer risk assessment. 

Implications for family members

  • If a heritable mutation is identified in a woman with ovarian cancer, relevant family members can be offered referral for genetic counselling and genetic testing for the known mutation. 
  • If a family member is found to carry the mutation, they should be offered cancer-specific risk management options.

Key Practice Points

It is best practice that genetic testing is ordered by a clinician experienced in interpreting the results, and written informed consent be obtained before testing is undertaken for a heritable mutation. Mainstreamingc  genetic testing for BRCA1/2 heritable mutations can be considered in the setting of specialist gynaecological cancer services with access to appropriately trained health professionals. Pre-test information may be provided by a range of health professionals. 
Genetic testing for BRCA1/2 heritable mutations and Lynch syndrome should be undertaken in a National Association of Testing Authorities (NATA) and Royal College of Pathologists of Australasia (RCPA) accredited laboratory.

a. The term ‘epithelial ovarian cancer’ is used in this Position Statement to include epithelial ovarian, fallopian tube and primary peritoneal cancer.
b. The term ‘heritable mutation’ refers to a germline mutation, namely a mutation that is inherited or passed on to children through the germline (eggs or sperm).
c. Mainstreaming is integration of genetic testing into routine cancer services. In mainstreaming, genetic testing is frequently undertaken by a member of the cancer team other than a genetic specialist.