BRCA Gene Test« Back to test list
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 the BRCA1, BRCA2 and PALB2 genes.
There are a number of settings in which testing of these genes is appropriate:
- 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 to predict response to olaparib, a specific drug listed on the PBS for the treatment of BRCA-related ovarian cancer.
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. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
BRCA1, BRCA2, PALB2
Sequencing of the coding and exon/intron boundaries of BRCA1, BRCA2 and PALB2 and deletion/duplication analysis of BRCA1 and BRCA2.
This test may only be requested by a medical specialist or consultant physician. General practitioners should refer patients to a specialist to arrange testing.
Use of our dedicated request form is strongly recommended.
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.
We recommend that the patient or another adult check the labelling of request form and sample tube. It is also recommended that predictive testing be repeated on a second independently collected sample.
Please indicate whether testing is for diagnostic or predictive purposes, or for determination of access to olaparib, 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.