Hormone Receptor-Positive Breast Cancer Outcomes in 628 patients with BRCA1, BRCA2, or PALB2 pathogenic variants

Authors:

Gerneiva Parkinson, Maryam Lustberg, Shayan S. Nazari, Andrew Elliott, George Sledge, Aileen Fernandez, Marzia Capelletti, Rinath Jeselsohn, Emily Hsu, Robert C. Sobol, Ana C. Sandoval, Ragisha Gopalakrishnan, Sam Makhoul, Lauren Nye, Allison W. Kurian, Filipa Lynce, Stephanie L. Graff

Background

  • Patients with hormone receptor-positive breast cancer (HR+BC)and pathogenic variants in BRCA1, BRCA2 or PALB2 (BRCA+) have several targeted therapy options including CDK4/6 inhibitors (CDK4/6i), and poly (ADP-ribose) polymerase inhibitors (PARPi).
  • Little is known about the sequence of these targeted therapies
  • Are there pathogenic variants between BRCA+ and their wildtypes?
  • Specific Aims:
    • To compare patients with hormone receptor-positive breast cancer and pathogenic variants in BRCA+ treated with CDK4/6i and/or PARPi
    • To compare pathogenic variants in BRCA+ with their respective wildtypes in hormone receptor-positive breast cancer patients
    • Compare low vs high tumor mutation burden for BRCA+ in hormone receptor-positive breast cancer patients
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