Come As You Are

Decoding Genetic Cancer Risk with Dr. Susan Domchek from Decoding Women's Health

Nov 4, 2025
Dr. Susan Domchek, Executive Director of the Basser Center for BRCA and an expert in BRCA-related cancers, shares vital insights into genetic cancer risks. She discusses the significance of family history and ethnicity in passing on mutations, specifically highlighting Ashkenazi Jewish risks. Domchek explains modern genetic testing, challenges of direct-to-consumer options, and the emotional impact of learning one's genetic fate. She emphasizes proactive measures, the importance of genetic counseling, and emerging strategies for early detection and prevention.
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ANECDOTE

Personal Discovery Sparked By Family Diagnosis

  • Dr. Elizabeth Poynor discovered she carried a BRCA1 mutation only after her mother's cancer prompted family testing.
  • Despite her genetics expertise, the mutation went undetected in her for decades until prompted by family diagnosis.
INSIGHT

Look Beyond Immediate Relatives

  • Take a three-generation family history including cousins and grandparents to assess cancer risk accurately.
  • BRCA mutations raise risks not just for breast and ovarian cancer but also pancreatic and prostate cancer.
INSIGHT

Father's Side Matters Equally

  • Genetic risk can come equally from the father's side and may be hidden in small families.
  • Fifty percent of all cancer susceptibility genes are inherited from men, so include paternal history.
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