BRCA1 & BRCA2 and Beyond: Who Should Get Tested and What the Results Mean

When you’re newly facing questions about breast cancer risk, the idea of genetic testing can feel overwhelming: “Do I need it?” “What will it mean for me and my family?”

At Learn Look Locate, we believe knowledge is power—so you can step forward with clarity, confidence, and hope.

In this guide, we explain what the BRCA1 and BRCA2 genes are, why testing matters, who may benefit, what the results mean, and how to move forward with confidence and compassion.

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“I am honored to be a part of Learn Look Locate as I feel that patients need to be armed with the most accurate breast-health information to make the best-informed decision for themselves.”

What is genetic testing for hereditary breast cancer risk?

Hereditary cancer genetic testing looks for inherited changes, also called pathogenic variants, in genes that may increase a person’s risk of developing cancer. About 5% to 10% of all cancers are thought to be caused by harmful inherited genetic changes. Testing can help you and your healthcare professional understand whether your personal or family history may be related to an inherited cancer risk and whether your screening, prevention, or treatment plan should be adjusted.

What Are BRCA1 and BRCA2—and Why They Matter

The BRCA1 and BRCA2 genes help repair DNA damage inside our cells. When a harmful pathogenic variant disrupts that repair process, the risk of breast and ovarian cancers rises.

Having a pathogenic variant in BRCA1 or BRCA2 does not mean you will get cancer—but it does mean your care plan may shift toward more proactive prevention and early detection.

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“With over 25 years of experience in oncology, genetics, and cancer prevention, I’ve seen how many women feel powerless until they understand their genetic risk. Testing brings that sense of control.”

Is genetic testing recommended for everyone?

Not everyone needs the same type of genetic testing, but anyone with questions about hereditary cancer risk can talk with a qualified healthcare professional about whether testing is appropriate.

Testing is most strongly recommended when a person meets medical guideline criteria based on personal cancer history, age at diagnosis, tumor features, ancestry, a known familial variant, or patterns of cancer in the family. Some professional societies recommend broader testing for people diagnosed with breast cancer. If testing is not covered by insurance, self-pay and financial assistance options may be available through some clinical laboratories.

Who is eligible for hereditary breast cancer genetic testing?

Eligibility depends on the guideline being used, the person’s medical history, and the family history. For example, the American Society of Breast Surgeons recommends that genetic testing be made available to all patients with a personal history of breast cancer. The ASCO/Society of Surgical Oncology guideline recommends BRCA1 and BRCA2 testing for all newly diagnosed breast cancer patients age 65 or younger and for selected patients older than 65 based on personal history, family history, ancestry, or treatment eligibility. NCCN criteria also include specific personal and family history patterns and are updated regularly.

Common indicators that may apply under guideline criteria include:

• Breast cancer diagnosed at any age or before age 45
• Ovarian cancer at any age
• Pancreatic cancer at any age
• Triple-negative breast cancer at a younger age
• Family history of breast cancer at age 50 or younger
• Three or more breast cancers in relatives on the same side of the family at any age
• Ovarian or male breast cancer at any age
• Pancreatic or metastatic prostate cancer at any age in a first-degree relative
• Known BRCA1/2 pathogenic variant in a relative
• Ashkenazi Jewish or other ancestries with higher variant prevalence
• Multiple relatives with related cancers

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“Patients need real-world guidance—not just “you might qualify”—but clear criteria, explained simply, so they can make informed decisions.”

I do not have cancer, but my family members do. Why should I consider testing?

If cancer runs in your family, genetic testing may help clarify whether you inherited a gene change that increases your cancer risk. The most informative person to test is usually a family member who has had cancer. If that is not possible, testing an unaffected person may still be helpful, but a negative result can be less informative. Results may guide recommendations such as earlier or more frequent breast screening, breast MRI, risk-reducing medication, surgery, or screening for other cancers, depending on the gene and family history.

I already have breast cancer. Why should I pursue genetic testing?

Genetic testing can help determine whether an inherited gene change contributed to the cancer and whether the result may affect treatment, surgical decision-making, risk of a second primary cancer, or screening for other cancers. Results may also help family members understand whether they should consider targeted testing for the same familial variant.

What Happens During Testing

Start by asking your healthcare professional whether hereditary cancer genetic testing is appropriate for you. If testing is ordered, a blood, saliva, or cheek-swab sample is sent to a specialized clinical laboratory. Saliva and cheek-swab samples can be accurate when enough high-quality DNA is collected, but a blood sample may be needed in some situations. Testing may be ordered by clinicians such as oncology providers, surgeons, OB/GYNs, primary care clinicians, genetics professionals, and other qualified healthcare professionals, depending on state law, institutional policy, and the laboratory. Genetic counseling or genetics-informed education is important before and after testing so patients understand the benefits, limitations, and possible results.

How much does genetic testing cost?

Cost depends on the laboratory, insurance plan, medical criteria, deductible, and whether the test is ordered as clinical genetic testing. Many patients who meet guideline criteria have little or no out-of-pocket cost, but coverage is not guaranteed. For patients who are uninsured, underinsured, or not covered by insurance, many laboratories offer self-pay pricing or financial assistance programs based on income and household size.

Are all genetic tests equal?

No. Direct-to-consumer or genealogy tests are not the same as clinical hereditary cancer genetic testing. Some direct-to-consumer tests look for only a limited number of variants and may miss many disease-causing variants in BRCA1, BRCA2, and other hereditary cancer genes. Clinical genetic testing is ordered for medical decision-making, is performed by a qualified clinical laboratory, and is designed to evaluate the genes and variants needed to guide risk assessment, screening, prevention, treatment, and family testing. Any concerning direct-to-consumer result should be reviewed with a qualified healthcare professional and may need confirmatory clinical testing.

Understanding the Results

Genetic testing reports usually include one of three main result categories: positive, negative, or variant of uncertain significance (VUS).

Positive

A positive result means a pathogenic or likely pathogenic variant was found in a gene associated with hereditary cancer risk. This may increase the risk for certain cancers and can guide screening, prevention, treatment eligibility, and family testing. A positive result does not mean a person will definitely develop cancer.

• Higher risk than average; screening may start earlier or occur more often (MRI + mammogram)
• Discussion of preventive medications or risk-reducing surgery
• Family members encouraged to consider cascade testing

Negative

A negative result means no reportable pathogenic or likely pathogenic variant was found in the genes analyzed. This does not mean cancer risk is zero. Screening and prevention recommendations should still be based on personal history, family history, breast density, risk models, and other medical factors.

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“A negative test doesn’t mean no risk. It means we guide you based on your personal and/or family history—while your personal story and smart screening still matter.”

Variant of Uncertain Significance (VUS)

A variant of uncertain significance means a genetic change was found, but there is not enough evidence to know whether it affects cancer risk. A VUS should not be used to make major medical decisions or to test family members for risk management. Most VUS results are later reclassified as benign or likely benign, and laboratories may update classifications as more evidence becomes available.

Does a positive genetic test mean I will get cancer?

No. A positive genetic test result means a pathogenic or likely pathogenic variant was found in a gene associated with hereditary cancer risk. It may significantly increase the chance of certain cancers, but it does not mean cancer is certain. The result should be interpreted with your personal history, family history, age, and other risk factors to guide an individualized plan.

Does a negative genetic test mean I am not at risk?

No. A negative result does not mean you cannot develop cancer. It means no reportable pathogenic or likely pathogenic variant was identified in the genes analyzed. Cancer can still occur because of family history, breast density, lifestyle, environmental factors, chance, or genetic factors that are not yet known or were not included in the test. Continue screening and prevention care recommended by your healthcare professional.

Should my family members consider genetic testing?

If you have a positive result, your blood relatives may benefit from targeted testing for the same familial variant. This is called cascade testing. Identifying relatives who carry the same variant can help them begin appropriate screening and prevention earlier. Relatives who do not carry the familial variant may be able to avoid unnecessary high-risk screening related to that variant, although their care should still consider their own medical and family history.

Can genetic testing change my screening, prevention, or treatment plan?

Yes. Genetic testing results can help guide medical decisions. Depending on the gene and the person’s history, recommendations may include earlier or more frequent mammograms, annual breast MRI, screening for other cancers, risk-reducing medication, risk-reducing surgery, or treatment options such as targeted therapies for eligible patients. The plan should be individualized with a qualified healthcare professional.

• Imaging: Start earlier, add MRI, or screen more frequently
• Prevention: Discuss risk-reducing strategies, medications, or risk-reducing surgery
• Ovarian risk: Consider surveillance or preventive options
• Family: Encourage relatives to get tested when appropriate
• Lifestyle: Maintain healthy habits to support overall wellness

What genes are associated with hereditary breast cancer?

Several genes are associated with hereditary breast cancer risk, and guidelines continue to evolve. Commonly evaluated genes with breast cancer risk associations include BRCA1, BRCA2, PALB2, ATM, CHEK2, BARD1, CDH1, NF1, PTEN, RAD51C, RAD51D, STK11, and TP53. The level of risk and recommended management differ by gene, variant type, personal history, and family history. A genetics-informed healthcare professional can help determine which genes are appropriate to test and how to use the results.

Emotional and Family Considerations

Genetic testing affects both body and heart. You may feel empowered, anxious, or both.

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“Testing gives information—but what you do with it is your choice. My role is to walk with you so those choices feel like confidence, not fear.”

What if I have never had cancer, but I am at high risk or considering preventive genetic testing?

Preventive genetic testing, also called unaffected or presymptomatic testing, is performed before a person develops cancer to determine whether they inherited a gene variant that increases cancer risk. When appropriate, earlier testing may allow risk to be managed with personalized screening, risk-reducing medication, surgery, or other prevention strategies. Testing is most informative when it begins with a relative who has had cancer, when possible.

Your Conversation Guide

Bring these questions to your next appointment:

• “Is BRCA or a multigene panel right for me?”
• “What would a positive or negative result change?”
• “Should my relatives be tested?”
• “What happens if my result is a VUS?”
• “How can I find emotional support through this process?”

FAQs About BRCA1 & BRCA2 Testing

Q1. What’s new in BRCA testing?
A: Modern testing uses multi-gene panels that look beyond BRCA1/2 to genes like PALB2, CHEK2, and ATM. Guidelines are updated regularly as new evidence emerges.
TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate
“We’re moving toward a broader picture of hereditary cancer risk.”

Q2. Is BRCA testing only for women?
A: No—both men and women can inherit pathogenic variants in BRCA1 and BRCA2. Men with these variants face elevated risks for breast, prostate, and other cancers.

Q3. How accurate is testing?
A: Certified clinical labs reach over 99% accuracy for detecting pathogenic variants. Interpretation of results—particularly variants of uncertain significance—is where expert guidance matters most.

Q4. Can I order testing online?
A: Direct-to-consumer kits exist, but often test only a limited number of variants and may miss many disease-causing variants. Clinical testing includes genetics-informed counseling and comprehensive sequencing appropriate for medical decision-making.

Q5. What’s the difference between BRCA testing and a multigene panel?
A: BRCA testing evaluates two genes; a multigene panel evaluates many additional genes associated with hereditary cancer risk, such as PALB2, ATM, CHEK2, and others.

Q6. Should I retest if I had BRCA testing years ago?
A: Possibly. If your testing was done before 2014 or used older technology, newer variants may have been discovered, or testing methods may not have been as comprehensive. Discuss with your healthcare professional or a genetics specialist.

Q7. How common are BRCA pathogenic variants?
A: About 1 in 400 people in the general population carry a BRCA1 or BRCA2 pathogenic variant, and approximately 1 in 40 individuals of Ashkenazi Jewish ancestry.

Q8. Is retesting covered by insurance?
A: Often yes, if previous testing was limited or outdated. Coverage depends on the payer, plan, and current guideline criteria. Verify with your insurer and the ordering laboratory.

Q9. What’s the link between BRCA and cancer treatment?
A: BRCA1/2-positive cancers may respond to PARP inhibitors, a class of targeted therapy. Knowing your genetic status before or at diagnosis can inform treatment options your oncologist may consider.

Q10. Can lifestyle changes lower risk?
A: Healthy habits support overall wellness and may modestly reduce cancer risk, but they do not remove inherited risk from a pathogenic variant. Personalized screening and prevention plans are still important.

Q11. Should my children be tested now?
A: Genetic testing for hereditary cancer risk generally waits until adulthood (age 18 or older) unless there is a medically urgent reason. Discuss timing with a genetics professional.

Q12. Are results private?
A: In the United States, the Genetic Information Nondiscrimination Act (GINA) protects against discrimination in health insurance and employment based on genetic information. Life, disability, and long-term care insurance are not covered by GINA. Ask your genetics counselor about protections in your state.

Q13. How long do results take?
A: Typically 2 to 4 weeks. Comprehensive multigene panels can take slightly longer.

Q14. Can BRCA pathogenic variants skip generations?
A: They do not skip generations. A parent who carries a pathogenic variant has a 50% chance of passing it to each child.

Q15. What global trends are emerging in hereditary cancer testing?
A: Trends include broader population-based testing, increased testing for men, efforts to reach underserved groups, and the use of artificial intelligence to improve risk prediction models.

Q16. What if I feel anxious about my risk?
A: Anxiety is common and understandable. Reach out to your care team, a certified genetics counselor, or survivor networks like Learn Look Locate for support and guidance.

TinaMarie Bauman, APRN, AGN-BC, ACGN, Expert Advisor of Learn Look Locate

“Information becomes empowerment only when paired with knowledge.”

Gentle Next Steps

If you’re considering genetic testing, you are not alone. Speak with your clinician or a certified genetics specialist. Learn Look Locate offers medically vetted information, survivor voices, and a compassionate community ready to walk beside you.