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NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.

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Summary

Women with Neurofibromatosis Type I (NF1) have a higher breast cancer risk. High-risk screening programs show good uptake and feasibility in NF1 patients, supporting their integration into clinical care.

Keywords:
breast cancerhigh-risk screeningneurofibromatosis type Iscreening uptake

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Area of Science:

  • Oncology
  • Genetics
  • Medical Genetics

Background:

  • Neurofibromatosis Type I (NF1), caused by neurofibromin (NF1) variants, increases breast cancer risk, especially in women under 50.
  • Emotional functioning challenges may affect cancer surveillance participation in NF1 patients.
  • The effectiveness of high-risk breast cancer screening programs for NF1 patients is not well-established.

Purpose of the Study:

  • To evaluate the uptake and feasibility of high-risk breast cancer screening in women with NF1.
  • To analyze radiologic findings and breast cancer characteristics in this population.
  • To assess the integration of formal breast screening programs into NF1 clinical management.

Main Methods:

  • Retrospective chart review of female NF1 patients at the Elizabeth Raab Neurofibromatosis Clinic (ERNC) from 2014-2018.
  • Analysis of enrollment and completion rates in the Ontario high-risk breast screening program (HR-OBSP).
  • Examination of breast cancer diagnoses and characteristics among screened patients.

Main Results:

  • 61 women with pathogenic NF1 variants participated in the HR-OBSP.
  • 95% of participants completed at least one high-risk breast screening modality.
  • Four cases of invasive breast cancer were diagnosed within the study cohort.

Conclusions:

  • High-risk breast cancer screening programs demonstrate good uptake and feasibility in women with NF1.
  • These findings support the routine integration of formal breast screening into the clinical management of NF1 patients.
  • Proactive screening is crucial for early detection of breast cancer in this high-risk group.