What is Genetic Testing for BRCA1 & BRCA2

iChhori Team
What Is Genetic Testing for BRCA1/BRCA2?

What Is Genetic Testing for BRCA1/BRCA2?

🔬 Overview of BRCA Genes

The BRCA1 and BRCA2 genes are tumor-suppressor genes that help repair DNA damage. Harmful mutations in these genes significantly raise the risk of breast, ovarian, prostate, and pancreatic cancer :contentReference[oaicite:0]{index=0}.

📊 Who Should Consider Testing?

  • Personal or family history of early-onset breast cancer (e.g., < 50 years), ovarian cancer, or male breast cancer :contentReference[oaicite:1]{index=1}.
  • Triple-negative breast cancer under 60, bilateral breast cancer, or cancer in multiple first/second‑degree relatives :contentReference[oaicite:2]{index=2}.
  • A known BRCA mutation in the family or specific ancestry (e.g., Ashkenazi Jewish) :contentReference[oaicite:3]{index=3}.
  • Men with prostate or male breast cancer, or relatives in the same bloodline :contentReference[oaicite:4]{index=4}.

🧪 How Testing Works

  • A blood or saliva sample is analyzed using sequencing and deletion/duplication methods :contentReference[oaicite:5]{index=5}.
  • Testing must be accompanied by genetic counseling both before and after :contentReference[oaicite:6]{index=6}.
  • Direct-to-consumer (DTC) tests are not comprehensive and may miss variants or produce false positives—clinical testing is recommended :contentReference[oaicite:7]{index=7}.

📈 Interpreting Results

  • Positive: A pathogenic mutation is found, indicating higher lifetime cancer risk (e.g., 55–65% breast cancer by age 70 for BRCA1) :contentReference[oaicite:8]{index=8}.
  • Negative: No known mutation detected—but doesn't eliminate all hereditary risk :contentReference[oaicite:9]{index=9}.
  • Variant of uncertain significance (VUS): A genetic change of unclear impact; further monitoring or testing may be needed :contentReference[oaicite:10]{index=10}.

✅ Benefits of Testing

  • Enables enhanced surveillance (e.g., MRIs, mammograms, PSA for men) :contentReference[oaicite:11]{index=11}.
  • Allows consideration of preventive surgeries (mastectomy, oophorectomy) or chemoprevention :contentReference[oaicite:12]{index=12}.
  • Helps with family planning, informing relatives, and possible preimplantation genetic testing :contentReference[oaicite:13]{index=13}.

⚠️ Limitations & Risks

  • Does not guarantee cancer development or prevention—risk is probabilistic :contentReference[oaicite:14]{index=14}.
  • Psychological stress or insurance/employment concerns may arise :contentReference[oaicite:15]{index=15}.
  • VUS interpretations may change over time, requiring follow-up :contentReference[oaicite:16]{index=16}.

💰 BRCA Testing in India

  • Typical cost ranges from ₹10,000 to ₹30,000, depending on the lab and test complexity :contentReference[oaicite:17]{index=17}.
  • Results usually take 4–5 weeks, with options like home collection or major labs like Redcliffe and Metropolis :contentReference[oaicite:18]{index=18}.

🧭 Next Steps

  • If you meet criteria, begin with genetic counseling to discuss your personal/family history and testing options.
  • If positive, discuss a personalized management plan — enhanced screening, surgeries, medications (e.g., PARP inhibitors), and family member testing :contentReference[oaicite:19]{index=19}.
  • Even if negative, review family history with your provider—other genes may be involved or cancer risk may remain elevated :contentReference[oaicite:20]{index=20}.
أحدث أقدم