Genetic Testing
for Breast Cancer

Genetic testing for breast cancer analyzes your DNA for inherited variants that raise cancer risk. About 5–10% of breast cancers are hereditary, most often involving BRCA1 or BRCA2, although several other genes can contribute.

Everyone has BRCA1 and BRCA2 genes. The concern is whether one copy contains a pathogenic or likely pathogenic variant that weakens DNA repair. Such a finding can increase breast cancer risk and, depending on the gene, ovarian, pancreatic, prostate, male breast, or other cancer risks. It indicates susceptibility—not a diagnosis or certainty. ^[6,7]

A genetic counselor can connect a result to your personal and family history, explain limitations, and help select the most informative test. For gene function and inheritance, read the BRCA1 and BRCA2 overview.

Standard tests may focus on BRCA1 and BRCA2, while multigene panel testing can include PALB2, ATM, CHEK2, TP53, CDH1, and other hereditary cancer genes. The test you choose determines which genes and variant types the laboratory evaluates.

Panels may also include STK11, PTEN, BARD1, BRIP1, RAD51C, and RAD51D. Not every gene carries the same breast cancer risk, and some are more strongly associated with ovarian or other cancers. Panel composition and management evidence vary, so broader is not automatically better for every clinical question. ^[1]

Ranges summarize guideline and cohort estimates, not an individual forecast. Risk varies with sex, age, family history, variant, and source. BRCA estimates are supported by Kuchenbaecker et al.; PALB2 by Yang et al. ^[1,4,5]

Breast cancer genetic tests range from consumer reports assessing selected founder variants, to full BRCA1/2 analysis, multigene panels, and whole-genome sequencing. They differ in purpose, breadth, validated variant classes, interpretation, and what a negative result can rule out.

*Prices are broad examples, not quotes. Insurance and laboratory policies change. Verify the current price, scope, and billing before ordering.

Consider a genetic risk assessment if you have a personal or family history of breast, ovarian, pancreatic, prostate, or male breast cancer; a known familial variant; Ashkenazi Jewish ancestry; or a breast cancer diagnosis at age 65 or younger.

The 2024 ASCO/SSO guideline recommends offering BRCA1/2 testing to all newly diagnosed patients with breast cancer age 65 or younger and to selected older patients based on history, ancestry, or treatment implications. It also addresses selected people with prior breast cancer and expanded testing beyond BRCA when family history supports it. ^[3]

The USPSTF recommends risk assessment for women with a relevant personal or family history or ancestry, followed by genetic counseling and testing when indicated. Criteria evolve and are more detailed than any online checklist. For a deeper review, see who should consider BRCA testing. ^[1,2]

Testing usually begins with genetic counseling or a clinician-led risk assessment, followed by a blood, saliva, or cheek-swab sample. The laboratory analyzes the selected genes, and many clinical results return in roughly two to four weeks.

1. 01

   Map the family history

   Collect cancer type, age at diagnosis, genetic reports, and history from both sides of the family. When possible, testing a relative who has had cancer is often most informative.

2. 02

   Choose the test

   A genetic counselor helps distinguish a known-family-variant test, full BRCA1/2 test, multigene panel, or broader genomic approach. Review possible results, limitations, privacy, and costs before consent.

3. 03

   Provide the sample

   A blood sample is common; saliva or a cheek swab may also be accepted. The laboratory may request a replacement if DNA quantity or quality is insufficient.

4. 04

   Analyze and classify variants

   The laboratory compares detected changes with evidence and classifies reportable variants. The exact regions and variant classes assessed depend on the assay.

5. 05

   Review the report

   A clinician or genetic counselor explains whether the result is positive, negative, or uncertain and what—if anything—it changes for you and your relatives.

A positive result identifies a harmful variant associated with increased risk; it does not mean cancer is present or inevitable. A negative result finds no reportable variant, while a variant of uncertain significance (VUS) is not yet known to affect health.

Variant classifications can change as evidence accumulates. Ask how the laboratory handles reclassification and keep contact information current. Any medically consequential consumer-initiated finding may need confirmation in a clinical laboratory. ^[6]

After a pathogenic variant is confirmed, your care team can build a gene-specific plan that may include enhanced breast screening, risk-reducing medication, preventive surgery, reproductive planning, or testing for adult relatives.

For some high-risk genes, enhanced screening may pair mammography with breast MRI. Depending on the gene, age, cancer history, and personal preferences, a specialist may discuss tamoxifen or raloxifene, risk-reducing mastectomy, or removal of the fallopian tubes and ovaries (salpingo-oophorectomy). These choices have different benefits, limitations, and effects on fertility and menopause; they are not automatic consequences of a positive result. ^[1,7]

Costs range from no out-of-pocket charge to several thousand dollars, depending on the test, insurance coverage, laboratory, and counseling. Confirm eligibility, prior authorization, network status, and self-pay options before providing a sample.

Many U.S. health plans cover BRCA-related risk assessment, genetic counseling, and testing when clinical criteria are met. Certain preventive services are covered without cost sharing for eligible patients under federal preventive-services rules, but plan type and eligibility matter. ^[2,11]