Cancer genetics - hereditary risk
BrCA panel - BRCA1 and BRCA2
The two genes most strongly linked to hereditary breast cancer. If these mutations run in your family, knowing your status changes what you can do about it.
Overview
What this test is
BRCA1 and BRCA2 are the most clinically significant genes in hereditary breast cancer. Mutations in these genes substantially elevate lifetime risk, and identifying them opens the door to targeted surveillance, preventive options, and treatment guidance.
The BrCA panel screens both genes in full. It is used to confirm whether a patient carries a pathogenic BRCA1 or BRCA2 variant – informing surgical decisions, treatment selection, and cascade testing for family members. It can be performed on blood, saliva, or tumour samples, making it relevant across multiple points in the cancer pathway.
72%
lifetime breast cancer risk with a BRCA1 mutation
69%
lifetime breast cancer risk with a BRCA2 mutation
2genes
BRCA1 and BRCA2 – the most actionable in hereditary breast cancer
The genes
BRCA1 and BRCA2 - what they do and why they matter
Each test below is matched to a specific clinical scenario. Select a test to explore its full scope, sample requirements, and report detail.
BRCA1
Breast cancer gene 1 - chromosome 17
BRCA1 plays a central role in repairing damaged DNA. When a pathogenic variant is present, this repair function is impaired - increasing the risk of breast, ovarian, and other cancers developing over time.
Breast Cancer
Ovarian Cancer
BRCA2
Breast cancer gene 2 - chromosome 13
BRCA2 is also involved in DNA repair. Mutations here raise breast cancer risk significantly in both women and men, and are also associated with ovarian, pancreatic, and prostate cancer risk.
Breast Cancer
Ovarian Cancer
BRCA1
Breast cancer gene 1 - chromosome 17
BRCA1 plays a central role in repairing damaged DNA. When a pathogenic variant is present, this repair function is impaired - increasing the risk of breast, ovarian, and other cancers developing over time.
Breast Cancer
Ovarian Cancer
BRCA2
Breast cancer gene 2 - chromosome 13
BRCA2 is also involved in DNA repair. Mutations here raise breast cancer risk significantly in both women and men, and are also associated with ovarian, pancreatic, and prostate cancer risk.
Breast Cancer
Ovarian Cancer
Who it's for
This test is right for you if
A first-degree relative has been diagnosed with breast or ovarian cancer, or is a known BRCA mutation carrier
You have a personal history of breast or ovarian cancer and want to understand whether it has a hereditary component
Your clinician needs BRCA status to guide surgical planning, chemotherapy selection, or PARP inhibitor eligibility
You have a tumour with features suggesting HRR aetiology and require molecular confirmation at gene level
Not sure if you need a broader panel?
If your family history involves multiple cancer types – including colorectal, ovarian, or prostate – the BrRCo panel screens 36 genes and may be more appropriate. Our genetics team can advise which test fits your clinical picture.
Your result
What the result tells you
Results confirm the presence, absence, or uncertain significance of variants in BRCA1 and BRCA2.
No pathogenic variant detected
No pathogenic variant detected
No clinically significant mutation found in BRCA1 or BRCA2. This is a meaningful result, though it does not eliminate all hereditary cancer risk, particularly if a broader family history exists.
Pathogenic variant detected
Pathogenic variant detected
A clinically significant mutation is confirmed in BRCA1 or BRCA2. This informs surveillance planning, surgical and treatment decisions, and cascade testing for at-risk family members.
Variant of uncertain significance (VUS)
Variant of uncertain significance (VUS)
A variant is identified but its clinical significance is not yet established. Your genetic counsellor will explain what this means in the context of your personal and family history, and how it should be managed.
Sample requirements
What we need from you
Sample type
Blood (EDTA tube), saliva, or tumour sample – depending on clinical context
Index report
If a familial mutation is already known, provide the index patient’s report for targeted analysis
Collection
Phlebotomy arranged at a time and location convenient to you
References
National Cancer Institute. BRCA gene mutations: cancer risk and genetic testing. Available at: cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
Know your BRCA status.
A clear result. Expert interpretation. All processed in South Africa.
Our team is here to guide you from first question to final answer.