BRCA1 & BRCA2

Genetic test for cancer risk BRCA1 & BRCA2 genes.

Test description

Hereditary cancers are those where altered genes contribute to an inherited predisposition to certain cancers. In breast cancer, 5-10% are due to inherited genetic alterations. These are most commonly identified in the breast cancer susceptibility genes, BRCA1 and BRCA2, but can also occur in other genes.

BRCA status can have significant implications for the therapeutic management of carriers. Cancer is complex, as one gene may be responsible for many different cancer types or many genes acting together may increase a woman’s risk of developing breast and ovarian cancer. Therefore, it is recommended these tests be ordered by, or in consultation with, specialists familiar with the implications for management.

Testing for genetic variants in BRCA1 and BRCA2 can also be used to determine eligibility for olaparib maintenance therapy in relapsed high grade serous ovarian cancer, metastatic castration-resistant prostate cancer, triple negative early breast cancer, or hormone receptor positive, HER2-ngative, early breast cancer with a high-risk characteristic.

Test information

Test name

BRCA1 & BRCA2 genetic testing

Clinical indication

Used to:

1. Determine eligibility for treatment with olaparib under the PBS in patients with relapsed high grade serous ovarian cancer or metastatic castration-resistant prostate cancer.

2. Determine eligibility for treatment with olaparib under the PBS in patients with triple negative early breast cancer; or hormone receptor positive, HER2-negative, early breast cancer with at least one of the following high-risk characteristics:

  • tumour histological grading of at least 3; or
  • tumour size of greater than 2 cm; or
  • one or more axillary lymph node metastases


3. Determine risk for patients with a personal and/or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome.

Gene(s)

BRCA1, BRCA2

Method

Massively Parallel Sequencing

Turn around time

4 weeks

Medicare eligibility

73295 – conditions apply

73304 – conditions apply

Price

$449 if patient is not Medicare eligible

Test request form

Cancer genetics request form preferred. Standard pathology request form accepted.

Sample type

Blood x 2

Collection type

6mL EDTA tube

Special instructions

2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing.