Should I get genetic testing for breast cancer

Should You Get Genetic Testing for Breast Cancer?

Genetic testing can be an important part of your breast cancer care, but it's not necessary for everyone. Let me help you understand when it's recommended and why it matters.

What Genetic Testing Looks For

Genetic testing examines your blood or saliva to look for germline mutations—gene changes you inherited from your biological parents that can increase cancer risk. According to the NCCN Guidelines, about 1 out of 10 breast cancers are hereditary, meaning they run in families.

The most well-known genes tested are BRCA1 and BRCA2. Everyone has these genes—they normally help prevent tumor growth and fix damaged cells. When these genes mutate (change abnormally), they no longer work correctly. BRCA mutations increase your risk for:

• Breast cancer
• Ovarian cancer
• Prostate cancer
• Pancreatic cancer
• Colorectal cancer
• Melanoma skin cancer

Other important genes include PALB2, p53, CHEK2, and ATM, which also affect cancer risk when mutated.

When Genetic Testing Is Recommended

According to NCCN Guidelines for Patients: Inflammatory Breast Cancer and Metastatic Breast Cancer, you should consider genetic testing if:

1. You have a family history of cancer, especially:

   • Multiple family members with breast, ovarian, pancreatic, or prostate cancer
   • Cancer diagnosed at young ages (under 50)
   • The same person having more than one type of cancer

2. You have certain features of your cancer that suggest hereditary risk

3. You have metastatic (stage 4) breast cancer—the NCCN specifically recommends germline BRCA1/2 testing for all patients with metastatic breast cancer (unless already done recently after 2014)

4. You have triple-negative breast cancer (TNBC)—this type has higher rates of hereditary mutations

Why Genetic Testing Matters

For Your Treatment:

• Mutated BRCA genes can affect how some treatments work
• Certain targeted therapies work specifically for cancers with BRCA or other mutations
• Results help your care team choose the most effective treatment plan

For Your Future Health:

• Knowing your mutation status helps plan cancer surveillance
• Guides decisions about risk-reducing surgeries or medications
• Helps you understand your risk for other cancers

For Your Family:

• You can pass these gene mutations to your children
• Other family members (siblings, parents, children) might carry the same mutations
• They can get tested and take preventive steps if needed

What to Expect

According to the NCCN Guidelines, genetic testing involves:

• A blood draw or saliva sample (spitting into a cup or cheek swab)
• Meeting with a genetic counselor or trained provider who will:
  • Review your family history
  • Explain what the test looks for
  • Discuss what results might mean
  • Help you understand your options

Important note: Testing takes time—it might take days or weeks for results to come in.

Taking the Next Step

The American Cancer Society and NCCN both emphasize that genetic counseling should be part of this process. A genetic counselor can help you:

• Understand if testing is right for you
• Interpret your results
• Make informed decisions about your care
• Discuss implications for family members

Questions to Ask Your Care Team

• Based on my cancer type and family history, do you recommend genetic testing?
• Should I see a genetic counselor?
• How will the results affect my treatment options?
• If I have a mutation, what does that mean for my family members?
• When should testing be done—before or during treatment?

Bottom Line

Genetic testing is particularly important if you have metastatic breast cancer, triple-negative breast cancer, or a family history of cancer. Even if you don't fit these categories, it's worth discussing with your care team. The results can guide your treatment, help protect your future health, and provide valuable information for your family members.

Remember: Having a genetic mutation doesn't mean you caused your cancer or did anything wrong—it's simply information that helps you and your care team make the best decisions for your health.

Sources: NCCN Guidelines for Patients: Inflammatory Breast Cancer (2025), NCCN Guidelines for Patients: Metastatic Breast Cancer (2024), NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancers