Your Genetic Test Was Positive: What Happens Next

A positive genetic test result means the laboratory identified a pathogenic variant in one of your genes — a change associated with an increased risk of developing certain cancers. It is normal to feel a range of emotions upon learning this.

A positive result is not a cancer diagnosis. It does not mean you will develop cancer. It means your risk is higher than average for certain cancer types, and that evidence-based strategies are available to manage that risk. Many individuals with pathogenic variants never develop cancer, particularly when they follow recommended screening and prevention protocols. For a comprehensive overview of genetic counseling for hereditary cancer, see our pillar guide.

The degree of risk depends on which gene is involved. Your genetic counselor will explain the numbers specific to your variant, but the following provide general context:

BRCA1 pathogenic variant

• Breast cancer: Lifetime risk of approximately 45 to 72 percent (general population: approximately 13 percent)
• Ovarian cancer: Lifetime risk of approximately 39 to 44 percent (general population: approximately 1.2 percent)
• Other cancers: Moderately elevated risk for pancreatic cancer; some evidence of increased prostate cancer risk in male carriers

BRCA2 pathogenic variant

• Breast cancer: Lifetime risk of approximately 45 to 69 percent
• Ovarian cancer: Lifetime risk of approximately 10 to 17 percent
• Other cancers: Elevated risk for pancreatic cancer, prostate cancer, and male breast cancer

Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

• Colorectal cancer: Lifetime risk of approximately 20 to 80 percent, depending on the gene (general population: approximately 4.5 percent)
• Endometrial cancer (women): Lifetime risk of approximately 25 to 60 percent
• Other cancers: Elevated risk for ovarian, stomach, urinary tract, and other cancers, varying by gene

Moderate-risk genes (PALB2, ATM, CHEK2)

• PALB2: Breast cancer risk approaching that of BRCA2
• ATM and CHEK2: Moderate increases in breast cancer risk. For a detailed look at CHEK2-specific management, see what a CHEK2-positive result means.
• Other associations are still being characterized

These are lifetime cumulative figures influenced by family history, lifestyle, and variant-specific factors. Your counselor will help you understand what they mean for you individually. Learn more in our guide to understanding your genetic test results.

The most immediate recommendation is typically a change in screening protocols. Enhanced screening is designed to detect cancer at the earliest possible stage. For background on who qualifies for hereditary cancer screening, see our hereditary cancer screening guide.

For BRCA1 and BRCA2 carriers

• Breast screening (women): Annual breast MRI beginning at age 25, with annual mammography added at age 30. Clinical breast examination every six to twelve months.
• Ovarian surveillance: No reliable screening exists for early ovarian cancer detection. Risk-reducing salpingo-oophorectomy is the primary recommendation (see below).
• Prostate screening (men with BRCA2): Screening beginning at age 40, including PSA testing.
• Pancreatic surveillance: For carriers with a family history of pancreatic cancer, MRI or endoscopic ultrasound may begin at age 50 or ten years before the youngest family diagnosis.

For Lynch syndrome carriers

• Colonoscopy: Every one to two years, beginning between ages 20 and 25 or two to five years before the youngest colorectal cancer diagnosis in the family.
• Endometrial surveillance (women): Discussion of endometrial sampling. Risk-reducing hysterectomy may be an alternative.
• Additional screening: Depending on the gene and family history, surveillance for other Lynch-associated cancers may be recommended.

For moderate-risk gene carriers (PALB2, ATM, CHEK2)

• Breast screening (women): Annual breast MRI beginning at age 30 for PALB2, age 40 for ATM and CHEK2. May vary based on family history.

Your medical team will develop a personalized plan based on your specific variant, age, sex, and family history. For a step-by-step overview of the testing process that led to your results, see our BRCA testing guide.

Chemoprevention options can reduce cancer risk in individuals who have not been diagnosed:

• Tamoxifen and raloxifene: Selective estrogen receptor modulators that reduce breast cancer incidence by approximately 30 to 50 percent in high-risk women. Side effects include increased blood clot risk and, for tamoxifen, a small increase in endometrial cancer risk.
• Aromatase inhibitors (exemestane, anastrozole): Also effective for breast cancer risk reduction in postmenopausal women.
• Aspirin: Has been shown to reduce colorectal cancer risk in individuals with Lynch syndrome. Discuss with your healthcare provider, as aspirin carries its own risks.

For individuals with high-risk variants, risk-reducing surgery can substantially decrease cancer risk:

• Risk-reducing mastectomy: Reduces breast cancer risk by approximately 90 to 95 percent in BRCA carriers. A personal decision influenced by age, family planning, and individual values.
• Risk-reducing salpingo-oophorectomy: Reduces ovarian cancer risk by approximately 80 percent. Recommended for BRCA1 carriers between ages 35 and 40, BRCA2 carriers between ages 40 and 45, typically after childbearing. Also reduces breast cancer risk by approximately 50 percent when performed premenopausally. Induces surgical menopause.
• Risk-reducing hysterectomy: May be considered for Lynch syndrome carriers with MLH1 or MSH2 variants, typically after childbearing.

These decisions do not need to be made immediately. The risk conferred by a hereditary variant has been present since birth; learning about it does not create new urgency. Many individuals evaluate their options over months and some choose enhanced screening and medication as alternatives to surgery.

Each first-degree relative has a 50 percent chance of carrying the same variant. Informing family members enables cascade testing — targeted testing that is faster, less expensive, and clinically definitive.

You are under no obligation to disclose your results. Your genetic counselor can help you prepare for family conversations if you choose to share. Learn more about cascade testing for your family.

• GINA: Prohibits health insurers from using genetic information to deny coverage or set premiums, and prohibits employers with 15 or more employees from using it in employment decisions.
• HIPAA: Classifies genetic information as protected health information.
• Limitations: GINA does not cover life, disability, or long-term care insurance.

Learn more about insurance coverage and privacy protections.

Receiving a positive result can bring a range of emotions — relief, anxiety, concern for family, or uncertainty about next steps. These responses are normal. Support is available through your genetic counselor, patient advocacy organizations such as FORCE (Facing Our Risk of Cancer Empowered), and mental health professionals who specialize in medical coping. Read our article on managing fear and anxiety about genetic test results.

1. Review results with your genetic counselor. Learn about what to expect in a genetic counseling session and ask for a written summary of recommended screening and actions.
2. Inform your healthcare team. Share results with your primary care provider and relevant specialists.
3. Begin enhanced screening. Work with your medical team to schedule the appropriate imaging and examinations.
4. Consider family outreach. When ready, discuss with your counselor which relatives may benefit from cascade testing.
5. Keep your report. This document will be referenced for years and may become relevant in new ways as the science evolves.