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Area of Science:

  • Oncology
  • Genetics
  • Radiology

Background:

  • Enhanced breast cancer screening with magnetic resonance imaging (MRI) is recommended for high-risk women, but uptake after genetic testing is not well understood.
  • Genetic testing identifies individuals with inherited predispositions to cancer, guiding personalized screening strategies.

Purpose of the Study:

  • To evaluate the uptake and adherence of breast MRI screening among women following genetic testing and counseling.
  • To compare MRI screening rates across different risk categories determined by genetic testing and clinical models.

Main Methods:

  • A multicenter cohort study involving 638 patients who underwent multiplex gene panel testing and genetic counseling.
  • Patients were categorized into risk groups based on pathogenic variants (PVs) and lifetime breast cancer risk (e.g., BRCA/high-risk PV, moderate-risk PV, higher/lower lifetime risk).
  • MRI screening adherence was assessed over time using surveys and analyzed with Cox regression and logistic regression models.

Main Results:

  • Patients with BRCA or other high-risk PVs were ~10 times more likely to undergo MRI screening compared to those with lower lifetime risk.
  • Moderate-risk PV carriers were ~4 times more likely to undergo MRI screening.
  • High-risk PV carriers demonstrated significantly higher and more consistent yearly MRI screening adherence.

Conclusions:

  • Women with inherited pathogenic variants conferring increased breast cancer risk exhibit higher and more consistent MRI screening uptake.
  • Genetic cancer risk assessment is vital for effective implementation of enhanced breast cancer screening programs.
  • These findings underscore the importance of integrating genetic testing into breast cancer screening pathways.