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Gene testing for hereditary breast or ovarian cancer

Also known as: BRCA1, BRCA2, familial breast cancer, BRCA, familial ovarian cancer, serous cancer, hereditary breast and ovarian cancer (HBOC)

Test category:

Familial - Familial cancer; Oncology- Breast/Ovarian cancer

Use of test

Purpose:

A proportion of individuals with a diagnosis and/or family history of breast and ovarian cancer have a familial predisposition to develop these cancers due to mutations in several genes.

Utility:

Diagnostic testing, or testing of individuals with breast or ovarian cancer, can provide important information to guide the current therapy of the patient, their risk of cancer in the future, and the risk of cancer among relatives. The clinical Manchester Score can be used to estimate the probability that an affected patient has an underlying mutation in BRCA1 or BRCA2.

Predictive testing, or testing of individuals who do not have cancer but where a mutation has been previously identified in a family member with breast or ovarian cancer, can provide valuable information regarding the person’s risk of cancer and whether strategies that could mitigate that risk are warranted.

Testing of women with advanced ovarian cancer can predict response to olaparib or other PARP inhibitors for the treatment of BRCA-related ovarian cancer.

The interpretation of the result may be dependent on the family history and the interpretation of other studies.

Ethical considerations:

This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.

Consent form:

Download the Sonic Genetics consent form.

Methodology:

Sequencing of the coding and exon/intron boundaries of BRCA1, BRCA2 and PALB2 and deletion/duplication analysis of BRCA1 and BRCA2.

If requested, an expanded panel will also include sequencing the coding and exon/intron boundaries of ATM, CHEK2, STK11, PTEN, and TP53.

Requesting the test

Ordering:

This test may only be requested by a medical specialist or consultant physician. Use of our dedicated request form is strongly recommended. General practitioners should refer patients to a specialist to arrange testing.

For both rebated and non-rebated testing, please use the specific HBOC request form.

Sample required:

4 mL blood in EDTA (separate dedicated tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.

It is recommended that predictive testing be repeated on a second independently collected sample and in parallel with a positive control (sample from another relative confirmed to have the family mutation).

We recommend that the patient or another adult check the labelling of request forms and sample tubes. 

>Link to Sonic Healthcare collection centres

Special instructions:

Please indicate whether testing is for diagnostic or predictive purposes, or for determination of access to PARP inhibitors, and whether or not the request meets Medicare requirements for rebated testing.

All requests must include signed confirmation that the patient has received appropriate pre-test counselling and that written informed consent has been completed.

Requests for predictive testing must be accompanied by a copy of the laboratory report describing the mutation identified in a relative. It is also recommended that predictive testing be repeated on a second independently collected sample before the result is released to the patient. This can be arranged with collection by a different collector, or at a different time. Note there is no additional cost to the patient for this additional level of service.

Turnaround time:

4 weeks from receipt of sample into the laboratory.

Price:

This test has a Medicare rebate which, subject to the requirements of a Medicare descriptor being met, may cover all or part of the cost.

For non-rebated testing, the price is $650.

Rebate:

For details of the Medicare rebate available, please click here.