The BRCA test is a genetic test that looks for inherited (germline) variants in the BRCA1 and BRCA2 genes that predispose to cancer. It is performed on a blood sample by next-generation sequencing; the result is reported as positive, negative or a variant of uncertain significance (VUS), and is always interpreted together with a physician's assessment.
What are BRCA1 and BRCA2?
BRCA1 and BRCA2 are two genes that encode proteins responsible for repairing DNA damage in cells. When a variant that disrupts the function of one of these genes is inherited, the repair mechanism is weakened; errors accumulate in cells and the likelihood of developing cancer rises. This condition is known as hereditary breast and ovarian cancer syndrome.
The variant is passed from a parent to a child with a 50% probability, so each child of a carrier parent has a one-in-two chance of inheriting it. The great majority of cancers are not hereditary; roughly 5–10% of breast cancers are attributable to inherited variants in high-penetrance genes such as BRCA.
How much higher is the risk for carriers?
In the largest prospective cohort study (9,856 carriers), the cumulative risk of breast cancer to age 80 was estimated at 72% for BRCA1 carriers and 69% for BRCA2 carriers; the risk of ovarian cancer was 44% and 17% respectively1. In the general population, the lifetime risk of breast cancer is around 12%.
The same study showed that the risk of cancer in the opposite breast in the 20 years after a breast cancer diagnosis was 40% for BRCA1 and 26% for BRCA2, and that the risk rose with the number of affected relatives in the family1. BRCA2 variants are associated with breast and prostate cancer in men, and both genes with pancreatic cancer.
Who should have a BRCA test?
International guidelines (NCCN, ESMO, ASCO) recommend hereditary cancer testing when at least one of the following applies. Medical genetics and oncology specialists in Turkey use similar criteria:
- Breast cancer diagnosed before the age of 50
- Triple-negative breast cancer, male breast cancer or ovarian cancer at any age
- Metastatic or high-risk prostate cancer; pancreatic cancer
- Several cases of breast, ovarian, pancreatic or prostate cancer on the same side of the family
- A known BRCA1/BRCA2 variant in the family
- Ashkenazi Jewish ancestry (certain variants are more common in this population)
- When needed for treatment decisions: eligibility for PARP inhibitors, surgical planning
How is the test performed?
A single tube of blood is all that is needed for a BRCA test; the sample is collected in a few minutes at Akasya Partner Clinics. In the laboratory, the genes are read in full by next-generation sequencing (NGS), and large deletions and duplications (CNVs) are screened as well. The report is written according to ACMG classification standards and is ready within 2–4 weeks.
At Lue GEN, BRCA1 and BRCA2 are not examined in isolation but together with the other genes linked to the same syndrome. OncoSeq® C, the 12-gene core panel, covers genes such as BRCA1, BRCA2, PALB2, TP53, PTEN, CHEK2 and ATM; where the family history is extensive or complex, the OncoSeq® S (25 genes) and OncoSeq® X (50 genes) panels screen for more syndromes in a single run. Which panel is appropriate is decided together with your physician.
What does the result mean?
| Result | Meaning | Next step |
|---|---|---|
| Positive | A pathogenic or likely pathogenic variant was found; risk is increased. | Earlier and more frequent screening (breast MRI), risk-reducing options, treatment planning; testing recommended for first-degree relatives |
| Negative | No known harmful variant in the genes examined. | If the family history is strong, a broader panel or testing of an affected relative; continue standard screening |
| VUS | A variant whose clinical significance cannot be determined with current knowledge. | Does not require action on its own; reclassified as new evidence accumulates |
What can be done if the result is positive?
A positive result is not a diagnosis but information about risk, and that information opens up concrete options. Annual MRI screening of the breasts from the age of 25–30, the timing of risk-reducing surgery for the ovaries, hormonal therapy and lifestyle adjustments are planned together with your physician. For carriers who have already been diagnosed with cancer, targeted drugs such as PARP inhibitors are a treatment option in breast, ovarian, prostate and pancreatic cancer.
One of the most important steps is cascade testing: the same variant is searched for specifically in parents, siblings and children. In this way, family members who carry the risk are identified much earlier and at far lower cost.
Turnaround, price and privacy
OncoSeq panels are planned with a physician's assessment; reports are ready in 2–4 weeks. The price depends on the panel selected and is stated clearly during the appointment call; payment is taken in Turkish lira. Your genetic data are protected under KVKK (Turkish Personal Data Protection Law), are never shared with third parties, and are forwarded to your physician only with your consent.
Questions about the BRCA test
Do I need to see a doctor before having a BRCA test?
You can submit an appointment request directly; our team will call you and, after hearing your family history, determine the appropriate panel together with our consultant physicians. If you already have a physician's referral, the process is even shorter.
Should men have a BRCA test?
Yes. BRCA variants increase the risk of breast, prostate and pancreatic cancer in men and are passed on to children with a 50% probability. If there is a known variant or a strong cancer history in the family, testing is recommended for men as well.
Can it be done on a saliva sample?
At Lue GEN, hereditary cancer panels are run on blood samples; blood is more reliable in terms of sequencing quality. Sample collection takes a few minutes.
Can my insurer or employer see my result?
No. Results are shared only with you and the physician you authorise. Under KVKK, genetic data are classed as special categories of personal data and are not shared with any organisation without your explicit consent.