How to find if i have brca 1, 2, atm, etc. mutations

How to Find Out If You Have BRCA1, BRCA2, ATM, or Other Mutations

Let me walk you through the testing process and what you need to know.

Two Types of Genetic Testing for Prostate Cancer

1. Somatic Testing (Tumor Testing)

This analyzes the cancer cells themselves to see what mutations are present ONLY in the tumor.

How it works:

• Your oncologist orders testing on your tumor tissue (from biopsy or surgery)
• Companies like Foundation One, Tempus, or others sequence the DNA in cancer cells
• Results show mutations that developed in the cancer

When it's done: Usually after diagnosis, especially for advanced prostate cancer

Limitation: Somatic mutations are only in cancer cells, not inherited

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2. Germline Testing (Inherited Mutation Testing)

This analyzes YOUR blood or saliva to see if you inherited mutations in DNA repair genes.

How it works:

• Simple blood draw or saliva sample
• Tests for inherited mutations in BRCA1, BRCA2, ATM, CHEK2, PALB2, and other genes
• Results show if you carry these mutations in ALL your cells (inherited)

When it's done: Usually recommended for men with advanced prostate cancer or strong family history

Advantage: If positive, your relatives can also be tested

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Step-by-Step Process

Step 1: Talk to Your Oncologist

Ask: "Should I have genetic testing? Do I meet criteria?"

According to NCCN Prostate Cancer Guidelines, testing is recommended for:

• Metastatic (advanced) prostate cancer
• Diagnosis before age 65
• Strong family history of prostate or BRCA-related cancers (breast, ovarian, pancreatic)
• Aggressive disease features

Step 2: Consider Genetic Counseling (Recommended)

A genetic counselor will:

• Review your personal and family medical history
• Explain what testing can and cannot tell you
• Discuss what results mean for you and your family
• Help you decide if testing is right for you
• Answer questions about privacy and insurance

How to find a genetic counselor:

• Ask your oncologist for a referral
• Search the National Society of Genetic Counselors (nsgc.org)
• Many cancer centers have genetic counselors on staff

Step 3: Get the Test

Your doctor will order either:

• Somatic testing (if you have tumor tissue available)
• Germline testing (blood or saliva sample)
• Both (increasingly common for advanced prostate cancer)

Step 4: Receive and Interpret Results

Results typically come back in 1-3 weeks and fall into categories:

| Result Type | What It Means | |---|---| | Positive | You carry a mutation; may affect treatment options | | Negative | No mutations found in genes tested | | Variant of Uncertain Significance (VUS) | Mutation found but unclear if it's harmful; may need follow-up |

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Important Lesson from Real Experience

From the CancerPatientLab Molecular Tumor Board discussion with Dr. [removed] Davis (a metastatic prostate cancer patient):

"One month ago I got a blood sample from Advent Health, on September 4, a Foundation One test. I didn't hear anything. I called around, including Foundation One, and they knew nothing about this. Finally, this morning I got a call saying that they sent the sample to the wrong people."

Key takeaway: Make sure your sample is sent to the RIGHT lab and track it carefully. Ask:

• Which company will analyze my sample?
• How will I receive results?
• Who will explain them to me?

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Common Testing Companies

These are frequently used for prostate cancer genetic testing:

• Foundation One – Comprehensive somatic and germline testing
• Tempus – Tumor and blood-based testing
• Invitae – Germline testing (inherited mutations)
• Myriad Genetics – BRCA and other gene testing
• Color Genomics – Germline testing

Your oncologist will choose based on what's available and what insurance covers.

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Insurance and Cost

Coverage varies:

• Many insurance plans cover genetic testing for men with advanced prostate cancer
• Germline testing is often covered if you meet criteria
• Ask your oncologist's office about:
  • Whether your insurance will cover it
  • Out-of-pocket costs
  • Financial assistance programs (many companies offer them)

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What Happens After Testing?

If You Have a Mutation:

• Your oncologist may recommend PARP inhibitors or other targeted therapies
• You should inform blood relatives (parents, siblings, children)
• They may benefit from genetic counseling and testing

If You Don't Have a Mutation:

• Standard treatment approaches apply
• You can still benefit from other therapies
• Reassuring for family members

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Questions to Ask Your Oncologist NOW

1. Do I meet criteria for genetic testing based on my diagnosis?
2. Should I have somatic testing, germline testing, or both?
3. Should I see a genetic counselor first?
4. Which testing company will you use, and why?
5. How long will results take, and how will you explain them to me?
6. If I have a mutation, how will it change my treatment plan?
7. What are the costs and insurance coverage?
8. Should my family members know about this testing?

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Key Takeaway

Getting tested is straightforward, but it requires:

• A conversation with your oncologist about whether you need it
• Possibly genetic counseling to understand implications
• Careful coordination to ensure samples go to the right place
• A plan for what to do with results

According to NCCN Guidelines, genetic testing is an important part of treatment planning for many prostate cancer patients, especially those with advanced disease.

This information is for educational purposes only. Always consult your healthcare team for personalized medical advice and decisions.