BRCA test: how to get BRCA1 and BRCA2 testing, and what it can’t tell you

There are three ways in. The first two lead to a test that reads BRCA1 and BRCA2 in full.

CDC and NCI describe signs that point to BRCA1 or BRCA2 in particular:^[1][3]

• Ovarian, fallopian tube or primary peritoneal cancer in your own history.
• Your own breast cancer, where your age at diagnosis, the type of cancer, your ancestry or your family history meets testing criteria.
• A BRCA1 or BRCA2 variant already found in a relative. Tell your clinician which variant: it helps them choose the test.^[2]
• A man in your family with breast cancer.
• Breast and ovarian cancer among several close relatives.
• Jewish ancestry from Ashkenazi or Eastern European communities, alongside breast and ovarian cancer in the family.

The USPSTF recommends BRCA risk assessment for women with this kind of history and recommends against routine testing for women without it; who should consider genetic testing for cancer sets out its advice in full, with the signs for other inherited cancers.^[5]

There isn’t one age. Expert groups focus BRCA testing on people more likely to carry a harmful variant, judged from your own and your family’s history and your ancestry, such as breast cancer at 50 or younger in you or a relative.^[6] The one firm age line is for children: professional groups don’t recommend BRCA testing under 18. There are no risk-reducing steps designed for children, and children are very unlikely to get a cancer linked to a BRCA variant.^[6]

BRCA1 and BRCA2 are genes everyone has, with two copies of each, one from each parent. They make proteins that help repair damaged DNA, which helps keep cells from turning into cancer. A harmful variant in either gene leaves each cell with only one working copy to rely on, which raises the risk of breast, ovarian and several other cancers.^[6]

So having BRCA genes is normal: what a test looks for is a harmful variant. That one working copy is usually enough to keep a cell protected. But it can be damaged in a cell later in life, and that cell then loses the repair and can turn into cancer. That’s why a harmful variant raises risk without making cancer certain.^[6]

They do the same kind of repair job, but a harmful variant in each changes the odds of different cancers. For women, breast cancer risk is high with either gene. A BRCA1 variant raises the risk of ovarian cancer more. A BRCA2 variant raises the risk of prostate cancer, pancreatic cancer and breast cancer in men more.^[6]

Estimates differ from study to study, and your clinician can put them in the context of your own family. How much a BRCA variant raises cancer risk sets out the published estimates in more detail.

No. Breast cancer is the best known, but a harmful BRCA1 or BRCA2 variant also raises the risk of ovarian cancer (counted together with cancer of the fallopian tubes and the lining of the belly), prostate cancer, pancreatic cancer and breast cancer in men, and people who carry one tend to get cancer younger.^[6] Pancreatic cancer, or prostate cancer that has spread or is high risk, in you or your family makes a BRCA variant more likely, so mention it to your clinician.^[6] Prostate cancer genetic testing covers the inherited genes linked to prostate cancer.

Yes, a father can pass it on. A harmful BRCA variant can come from your mother or your father,^[11] and each child of a parent who carries one has a 1 in 2 chance of inheriting it.^[2]

The variant itself can’t skip a generation: if you didn’t inherit your family’s variant, you can’t pass it on to your children.^[6] But the cancers can seem to skip one. Some people who carry a harmful variant never get cancer, and doctors can’t predict who will (this is called reduced penetrance).^[12] A father who carries one may never get breast cancer, which is rare in men even with a BRCA variant,^[6] and he can’t get ovarian cancer. He can still pass the variant to his daughter.

Yes. Each child’s chance is separate, like a new coin toss for every child, so one sister inheriting the variant doesn’t change her sister’s chance either way.^[13] That’s why one sister’s result, positive or negative, can’t tell the other what she carries. Only her own test can.

A BRCA DNA test looks for harmful variants in BRCA1 and BRCA2: changes that stop the gene doing its repair job and raise cancer risk. It reads the DNA you were born with, from a blood or saliva sample, because an inherited variant is in every cell of your body.^[6] A BRCA1 test and a BRCA2 test are usually done together, as one test of both genes. There are hundreds of BRCA variants that could increase risk,^[3] and each one on its own is rare.^[7]

• A full-gene test reads each gene letter by letter, and a separate check can find larger missing or repeated pieces of a gene. In one study of 48,456 people referred for testing, about 1 in 10 of the harmful changes found in the higher-risk group were pieces of that kind.^[8]
• A test of selected variants checks a list of known positions. NCI notes that the one direct-to-consumer test for inherited cancer risk the FDA had authorized by January 2024 looked at three BRCA variants, a method that misses about 80% of the BRCA variants that cause cancer.^[3]

A result with no variant found can’t rule out inherited cancer risk.

For a clinician-ordered test, the lab and your clinician or counselor will tell you what to expect, and they usually go through the result with you.

For GeneCancer, our at-home test of selected variants (not a full BRCA1 and BRCA2 test): Results are usually ready 5 to 7 business days after the lab receives your activated sample (10 to 14 business days during holiday weeks). When your results are ready we email you (the email never names your test) with the lab’s secure link to your report, which asks for the tested person’s details before it opens.

Selected variants only, by genotyping. Not a full-gene test.

What a BRCA test costs depends on which kind you mean. For a clinician-ordered test that reads BRCA1 and BRCA2 in full, the price depends on how complex the test is, for example how many other genes it reads alongside them, and it goes up if more than one test is needed or if relatives must be tested to make sense of a result. The clinician or genetic counselor who orders it can tell you what it will cost.^[14]

GeneCancer, our at-home test, isn’t a full BRCA1 and BRCA2 test. It is $399, paid when you order. Checks selected variants across 108 genes, including BRCA1 and BRCA2, by genotyping. A result with no variant found doesn’t rule out inherited risk.

Selected variants only, by genotyping. Not a full-gene test.

Wondering who pays for a clinician-ordered test, or where to find help if the cost is a barrier? See how clinician-ordered BRCA testing is paid for.

Not quite. BRCA1 and BRCA2 are the best-known genes behind inherited breast cancer, but not the only ones: TP53, for example, causes Li-Fraumeni syndrome, which raises the risk of breast cancer among others.^[9] Breast cancer genetic testing covers the other genes and who should test for them.

• A harmful BRCA1 or BRCA2 variant. A risk finding, not a diagnosis, and the risks differ between the two genes, so your clinician reads it for the gene it sits in.^[6] A finding from a test of selected variants needs a clinical test to confirm it: one clinical lab found that 40% of the variants people sent it from consumer raw DNA data were false positives.^[10] After a positive BRCA result covers confirming it, your options and your family.
• What it means for relatives. BRCA variants are passed down: each of your children has a 1 in 2 chance of carrying the same variant, and your parents, brothers and sisters are the relatives most likely to share it.^[2] Each of them can ask their own clinician about testing for that one variant.
• No variant found. After a full-gene test, your clinician explains what it means given your family history. After a test of selected variants, it speaks only for the positions checked and can’t rule out a harmful BRCA variant.
• An uncertain result. Some BRCA1 and BRCA2 changes are variants of uncertain significance: nobody knows their effect yet, and your clinician weighs them alongside your history.^[3]

• Whether you will get cancer. Not everyone who inherits a harmful BRCA1 or BRCA2 variant develops cancer.^[6]
• Anything about other inherited cancers. A BRCA result speaks only for BRCA1 and BRCA2. It says nothing about Lynch syndrome or other cancer genes.
• That you can skip screening. Most cancer isn’t inherited,^[3] so a BRCA result with nothing found doesn’t replace the screening your clinician recommends.
• What to do about a finding. Extra screening, surgery and medicines each have benefits and harms for people with a BRCA variant; those choices belong with your clinician.

If you or a close relative has had cancer, or a variant is known in your family, start with clinician-ordered testing that reads the genes in full.

With no personal or family history of cancer, you may simply want to know whether you carry any of a fixed set of variants. GeneCancer is one way to find out. Checks selected variants across 108 genes, including BRCA1 and BRCA2, by genotyping. Because it reads chosen positions only, full-gene testing could find variants it misses, and a result with none found doesn’t rule out inherited risk. Any variant it does find needs confirming by your clinician with a clinical test.

Selected variants only, by genotyping. Not a full-gene test.