Breast Cancer Conversations

267. Hereditary Genetic Testing, Somatic Tumor Testing & ctDNA: What Every Breast Cancer Patient Should Know


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In this special episode of Breast Cancer Conversations, host Laura Carfang speaks with Dr. Troso  about the evolving role of DNA testing in breast cancer care. Together, they break down the three main types of testing:

  • Hereditary genetic testing: Identifying inherited mutations such as BRCA1, BRCA2, and PALB2 (among others) that increase cancer risk and influence prevention and treatment decisions.
  • Somatic (tumor) testing: Analyzing mutations within the tumor itself—such as PIK3CA or ESR1 mutations—to guide targeted therapies and manage resistance in advanced disease.
  • Circulating tumor DNA (ctDNA) testing: Also known as a liquid biopsy, this emerging tool uses blood tests to detect cancer DNA fragments. It holds promise for monitoring recurrence, guiding treatment earlier, and advancing clinical trials.

Tune into this Special! 

🎙️ What You Will Learn in This Episode

  • The three main types of DNA testing for breast cancer:
    • Hereditary genetic testing (inherited risk, BRCA1/2, PALB2, and full gene panels)
    • Somatic/tumor testing (mutations that develop in the tumor, such as ESR1, PIK3CA, AKT, PTEN)
    • ctDNA testing (liquid biopsies that detect tumor DNA fragments in the blood)
  • Why genetic testing today goes beyond BRCA1 and BRCA2 and should include full panel testing
  • How somatic mutations can develop over time and drive treatment resistance — and the targeted therapies available to address them
  • The potential of ctDNA (circulating tumor DNA) testing in monitoring recurrence, guiding treatment, and detecting cancer earlier than imaging
  • Insights from recent clinical trials (such as the ZEST trial with PARP inhibitors) and why research is essential before ctDNA becomes standard of care
  • How DNA testing influences treatment decisions, from surgery planning to advanced therapy options
  • The emotional side of survivorship: managing fear of recurrence and focusing on lifestyle choices within your control (nutrition, exercise, sleep, mindset)

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About SurvivingBreastCancer.org: SurvivingBreastCancer.org, Inc. (SBC) is a federally recognized 501(c)(3) non-profit virtual platform headquartered in Boston with a national and global reach. Through education, community, and resources, SurvivingBreastCancer.org supports women and men going through breast cancer. We provide a sanctuary of strength, compassion

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