BRCA1 gene tests look for DNA changes (variants) in the BRCA1 gene — especially those classified as pathogenic or likely pathogenic — that can disrupt BRCA1 protein function and markedly increase a person’s lifetime risk of breast, ovarian and some other cancers. These tests do not diagnose cancer; they indicate inherited (germline) predisposition when done on blood or saliva and can also detect tumor-specific (somatic) BRCA1 changes when done on cancer tissue.

Typical testing detects single‑nucleotide changes and small insertions/deletions via sequencing and often assesses larger copy‑number changes or rearrangements by MLPA or NGS read‑depth analysis. Results are reported as pathogenic/likely pathogenic, variant of uncertain significance, or benign/likely benign, and are interpreted in the context of clinical risk and management.

BRCA1 testing is usually done from a small blood draw (venipuncture) or from a non‑invasive saliva/buccal swab. Blood is collected into a standard tube (often an EDTA tube) by a trained phlebotomist at a clinic or lab; saliva kits require you to spit into a provided tube or use a cheek swab to collect cells from the inside of your mouth.

Home collection kits include clear instructions — for saliva samples you may be asked not to eat, drink or smoke for about 30 minutes beforehand — and prepaid packaging to return the sample to the laboratory. Once received, the lab extracts DNA from the blood or cheek cells and analyzes the BRCA1 gene for inherited variants.

A BRCA1 gene test tells whether you carry inherited changes (variants) in the BRCA1 gene that are known to increase the risk of certain cancers—most commonly breast and ovarian cancer. A pathogenic or likely pathogenic variant means your lifetime risk is substantially higher than the general population and may prompt earlier and more intensive screening, preventive options, or targeted therapies; a clearly negative result (especially if the specific family variant is known and absent) usually means your BRCA1-related risk is similar to population risk but does not eliminate all cancer risk. Results are not diagnostic of cancer and do not predict exactly if or when cancer will occur.

A variant of uncertain significance (VUS) means the test found a change whose effect on cancer risk is unknown and should generally not change medical management until reclassified. BRCA1 testing only assesses that gene (and only the types of changes the test is designed to detect); other genetic factors, family history, lifestyle, and environment also affect cancer risk. These tests are for people to understand their personal BRCA1 gene status and nothing else; discuss results with a genetics professional or your clinician for personalized interpretation and follow-up.

BRCA1 genetic tests performed by accredited clinical laboratories (using sequencing plus methods to detect larger rearrangements) are highly accurate at identifying known pathogenic or likely pathogenic variants—so a reported pathogenic BRCA1 result is a reliable indicator of substantially increased hereditary breast and ovarian cancer risk and is clinically actionable.

However, there are important limitations: a negative test does not rule out hereditary risk (other genes or undiscovered variants may be involved), some testing methods may miss rare rearrangements or mosaic variants, and variants of uncertain significance (VUS) are relatively common and should not change management until reclassified. Interpretation depends on test type, lab quality and the person’s family history, so testing through an accredited lab with pre- and post-test genetic counseling is recommended.

BRCA1 is a gene and is tested for pathogenic variants, not measured as a “level.” Germline BRCA1 testing (blood or saliva) is typically done once—if you have a negative result and no new family information, routine repeat testing isn’t usually necessary. If a pathogenic BRCA1 variant is found, clinical management (enhanced screening, risk‑reducing options) follows and the genetic result itself does not require periodic retesting.

Exceptions: tumor (somatic) testing may be repeated for new cancers or treatment decisions, and variants of uncertain significance can be reinterpreted as knowledge advances, so labs or genetics teams may recommend reanalysis. Discuss timing and follow‑up with a genetic counselor or your clinician to determine the right plan for your personal and family history.

No — BRCA1 gene test results highlight patterns of imbalance or resilience and are not, by themselves, medical diagnoses.

They must be interpreted alongside symptoms, medical history, and other laboratory or biomarker data by a qualified clinician to guide risk assessment and management.

You cannot change or “improve” the BRCA1 gene sequence or its mutation status — BRCA1 tests look for inherited variants that alter cancer risk, not a blood level you can raise or lower. If your test shows a pathogenic BRCA1 variant, the result indicates a higher lifetime risk of breast and ovarian cancer and is used to guide risk-management decisions rather than to be corrected by lifestyle or supplements.

What you can do is reduce your cancer risk and manage surveillance: get genetic counseling to understand your specific result and family implications; follow an individualized plan with enhanced screening (earlier and more frequent MRI and mammography), consider risk‑reducing options discussed with an oncology/genetics team (risk‑reducing salpingo‑oophorectomy, prophylactic mastectomy, or medical risk‑reduction such as selective estrogen receptor modulators where appropriate), inform and test at‑risk relatives, adopt healthy behaviors (maintain healthy weight, limit alcohol, exercise, avoid tobacco) that lower general cancer risk, and consider clinical trials. Always discuss options and timing with a genetic counselor or specialist before making decisions.