BRCA test results: positive, negative and VUS explained

The possible results

Lab reports use five terms for a gene change: pathogenic, likely pathogenic, uncertain significance, likely benign and benign. (USPSTF, 2019) For you, they come down to these results:

What a BRCA1 or BRCA2 result means
Result	On the report	What it means
Positive	Pathogenic or likely pathogenic variant	A harmful change was found and the risk of certain cancers is higher. It cannot tell whether or when cancer will develop; some people with a harmful change never get cancer. (NCI, 2024)
True negative	No harmful change, when a relative's harmful change is known and was tested for	You did not inherit the family's harmful change and cannot pass it to your children. Your risk is probably about the same as the general population, not zero, and other family history can still raise it. (NCI, 2024) (NCI, genetic testing)
Uninformative negative	No harmful change, when none has been found in the family	The family may still carry a change the test did not find. The result adds nothing beyond your personal and family history, which still guide your care. (NCI, genetic testing) (NCI, 2024)
VUS	Variant of uncertain significance	A change was found but there is not enough data to say whether it raises cancer risk. Until it is reclassified, care is based on family history and other risk factors. (NCI, 2024)

Your doctor decides what your result means for you, together with a genetic counselor. The NCI says genetic counseling helps a person understand what any of these results mean for them and their blood relatives. (NCI, 2024)

How often a VUS changes

The NCI says most VUS are reclassified as benign as more data comes in, so a VUS is usually not used to make health care decisions. Keep in touch with the provider who ordered the test so you hear about any change. (NCI, genetic testing)

One large study of hereditary cancer tests at a single US lab, 2006 to 2016, put numbers on this. Of 26,670 different VUS, 7.7% were reclassified during follow-up. Of those, 91.2% were downgraded to benign or likely benign (median 1.17 years to the amended report) and 8.7% were upgraded to pathogenic or likely pathogenic (median 1.86 years). Reclassification of results first called pathogenic (0.7%) or benign (0.2%) was rare. (Mersch, 2018) The study covered many cancer genes, not only BRCA1 and BRCA2, and the authors note it came from one lab.

How a positive result changes screening

Professional groups generally recommend that women with a harmful BRCA change start breast screening younger and add breast MRI to mammograms. (NCI, 2024)

Breast screening with a BRCA1 or BRCA2 change, by source
Source	Breast MRI	Mammogram
American Cancer Society, 2026	Every year, typically from 30	Every year, typically from 30
American College of Radiology, 2023	Starting at 25 to 30	Every year, starting between 25 and 40 depending on the type of risk; carriers can wait until 40 if they have yearly MRI as advised

Sources for the table: (ACS, 2026) (ACR, 2023) Where they differ: both add yearly MRI, but the ACR can start MRI up to 5 years earlier and lets carriers who have MRI delay mammograms to 40. The ACS also applies its advice to people whose parent, sibling or child has a BRCA change and who have not been tested themselves. (ACS, 2026) MRI finds more false positives than mammography. (NCI, 2024)

Other cancers, per the NCI: (NCI, 2024)

Ovarian cancer: no effective screening method is known. Ultrasound and CA-125 blood tests have not been shown to find it early enough to improve long-term survival. More: ovarian cancer screening.
Men: some guidelines advise a yearly mammogram and prostate cancer screening, particularly with a BRCA2 change, and possible prostate screening with a BRCA1 change.
Pancreatic cancer: some groups advise imaging for carriers who also have a close blood relative with pancreatic cancer. Whether this lowers deaths is still being studied. More: pancreatic cancer screening.

The NCI lists risk-lowering surgery and medicines as other options. They are outside this page; a genetic counselor or your doctor goes through them with you. (NCI, 2024)

How much a harmful change raises risk

Lifetime cancer risk with a harmful BRCA change vs the general population (NCI)
Cancer	With a harmful change	General population
Breast (women)	More than 60% (BRCA1 or BRCA2)	About 13%
Ovarian	About 39% to 58% (BRCA1); 13% to 29% (BRCA2)	About 1.1%
Breast (men), by 70	About 0.2% to 1.2% (BRCA1); 1.8% to 7.1% (BRCA2)	About 0.1%
Prostate, by 80	About 7% to 26% (BRCA1); 19% to 61% (BRCA2)	About 10.6%
Pancreatic	Up to 5% (BRCA1); 5% to 10% (BRCA2)	About 1.7%

Source for the table: (NCI, 2024) These are averages across many people; they do not predict one person's future.

What it means for your relatives

Genetic test results can tell your blood relatives something about their own risk, and family members may feel differently about whether they want to know. A genetic counselor can help relatives of someone with a positive result learn their testing options. (NCI, genetic testing)

Testing in a family works best when it starts with a relative who has had a BRCA-related cancer, including male relatives. Once the family's harmful change is known, others can be tested for it. (USPSTF, 2019) A relative who then tests negative for that change has a true negative result. (NCI, 2024) Professional groups do not recommend BRCA testing for children under 18. (NCI, 2024)

The Genetic Information Nondiscrimination Act (GINA) bars health insurers and employers from discriminating based on genetic information. It does not cover members of the military, or life, disability or long-term care insurance. (NCI, genetic testing)

Home DNA kits vs a clinical test

Home kit vs clinical BRCA test
	Home (direct-to-consumer) kit	Clinical test
Who orders it	You, without a doctor's order	A genetic counselor or other health professional
What it looks at	The only FDA-authorized home test for inherited cancer risk reports 3 BRCA variants, most common in people of Ashkenazi Jewish descent	The genes or family variant chosen after a review of your history
A negative result	Does not rule out other harmful changes	Read as true or uninformative negative, depending on the family

Sources for the table: (FDA) (NCI, genetic testing) (NCI, 2024) The NCI recommends genetic counseling for anyone who uses a home test, to understand the result and make sure the right test is done. (NCI, 2024) The FDA says even a negative home result is no reason to skip your usual screenings. (FDA)

USPSTF and other groups: where they differ

The USPSTF 2019 recommendation covers women without symptoms whose BRCA status is unknown, including women treated for a past breast, ovarian, tubal or peritoneal cancer who are now cancer free and have not been tested. Managing a positive result is outside its scope, and it found no evidence on home tests. (USPSTF, 2019)

Where they differ: the USPSTF notes that the National Comprehensive Cancer Network (NCCN) sets its own specific criteria for counseling and testing and advises that multigene panel tests come with professional genetic counseling before and after. The American Society of Breast Surgeons advises making testing available to everyone with a personal history of breast cancer, while the American College of Medical Genetics and the American Society of Clinical Oncology advise testing only when personal or family history suggests an inherited risk. (USPSTF, 2019) The NCI's list of reasons to consider testing also includes male breast cancer, pancreatic cancer and some prostate cancers in the family. (NCI, 2024) The USPSTF lists an update of its recommendation as in progress. (USPSTF, 2019)

Questions people ask

Does a positive BRCA result mean I will get cancer?

No. A positive result means a harmful change (pathogenic or likely pathogenic variant) was found and your risk of certain cancers is higher. It cannot tell whether or when cancer will develop, and some people with a harmful change never get cancer. (NCI, 2024)

My BRCA test was negative. Am I in the clear?

It depends on your family. If a relative has a known harmful change and you tested negative for it, that is a true negative: your risk is probably about the same as the general population. If no harmful change has been found in your family, a negative result is uninformative, and your family history still guides your screening. (NCI, genetic testing) (NCI, 2024)

What should I do with a variant of uncertain significance (VUS)?

Most VUS are later reclassified as benign. Until then, the NCI says care should be based on your personal and family history, not on the VUS. Keep in touch with the provider who ordered the test so you hear if the variant is reclassified. (NCI, 2024) (NCI, genetic testing)

When does breast MRI start with a BRCA change?

The American Cancer Society advises a breast MRI and a mammogram every year, typically from 30. The American College of Radiology advises MRI from 25 to 30, with yearly mammograms starting between 25 and 40 depending on the type of risk. Your doctor or genetic counselor sets your schedule. (ACS, 2026) (ACR, 2023)

Is a home DNA kit enough to rule out a BRCA change?

No. The only FDA-authorized home test for inherited cancer risk reports 3 BRCA variants that are most common in people of Ashkenazi Jewish descent. A negative result does not rule out other harmful changes. (FDA) (NCI, genetic testing)