Breast Cancer Cell- free DNA (cfDNA) Profiles Reflect Underlying Tumor Biology: The Circulating Cell-free Genome Atlas (CCGA) Study


  • Breast cancer is the second leading cause of death among women in the United States
    • Approximately 40,000 women die each year from breast cancer in the U.S.1
  • Patients diagnosed with early-stage breast cancer have a significantly better prognosis than patients with advanced disease at presentation
    • Mammography is the main screening paradigm/standard-of-care
    • Mammography does not consistently detect clinically aggressive subtypes
    • Mammography is problematic in women with dense breasts, has a high rate of false positives, and can result in overdiagnosis
  • Recent updated guidelines recommended altering the screening paradigm from mammography once a year starting at age 40 to once every two years starting at age 50, but this is not widely adopted and remains somewhat controversial
  • New breast cancer screening approaches, complementary to mammography, are needed to detect clinically aggressive subtypes, as well as cancers that present at later stages in unscreened populations
    • Stage shift due to earlier detection may improve outcomes
  • Development of blood tests to detect typically unscreened cancers that affect women is highly desirable
  • The Circulating Cell-free Genome Atlas (CCGA) study (NCT02889978) is a prospective, multicenter, longitudinal, observational study to support development of a noninvasive assay for multi-cancer detection (Figure 1)
    • >12,000 of 15,000 planned participants enrolled as of May 2018 (70% cancer, 30% non-cancer)
  • A preplanned substudy of a WomenOnly Cohort is reported here.