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Her cancer seemed incurable until doctors identified a rare genetic condition

Her cancer seemed incurable until doctors identified a rare genetic condition

Summary

Diane Davis was diagnosed with advanced ovarian cancer that quickly worsened despite chemotherapy. Doctors found she had Lynch syndrome, a rare genetic condition that makes cancer more likely, and treated her with a new type of medicine called immunotherapy, which helped shrink her tumors and improve her health.

Key Facts

  • Diane Davis had advanced ovarian cancer that spread quickly and did not respond well to chemotherapy.
  • Her doctor performed molecular testing and discovered she has Lynch syndrome, a genetic condition increasing cancer risk.
  • Lynch syndrome causes problems with proteins that repair DNA, leading to many mutations in tumors.
  • Tumors with many mutations can sometimes be treated by boosting the immune system using immunotherapy.
  • Davis was treated with pembrolizumab, a checkpoint inhibitor drug approved by the FDA in 2017.
  • After just two treatments with immunotherapy, Davis' tumors shrank and her condition improved.
  • Lynch syndrome has about a 50% chance of being inherited by children of affected parents.
  • The diagnosis helped explain cancer in Davis’ family and opened up new treatment options.
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