Original Study|Articles in Press

Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1

Published:February 12, 2023DOI:



      Women with neurofibromatosis type 1 (NF1) have up to a 5-fold increased risk for breast cancer before age 50 and a 3.5-fold increased risk of breast cancer overall. The purpose of our study was to assess breast cancer screening utilization and outcomes in this population.

      Patients and Methods

      This IRB approved HIPAA compliant study retrospectively assessed consecutive NF1 patients (January 2012-December 2021) with recorded clinical visits and/or breast imaging. Patient demographics, risk factors, and screening mammogram and breast magnetic resonance imaging (MRI) outcomes were recorded. Descriptive statistics were obtained and standard breast screening measures were calculated.


      One hundred and eleven women (median age 43, range 30-82) were eligible for screening based on current NCCN guidelines. A total of 86% (95/111) of all patients and 80% (24/30) of patients under age 40 had at least 1 mammogram. In contrast, 28% (31/111) of all patients and 33% (25/76) of patients ages 30 to 50 had at least 1 screening MRI. Of 368 screening mammograms performed, 38 of 368 (10%) resulted in the recall, and 22 of 368 (6%) resulted in a biopsy. Of 48 screening MRIs performed, 19 of 48 (40%) short-term follow-ups and 12 of 48 (25%) biopsies were recommended. All 6 screen-detected cancers in our cohort were detected initially on screening mammograms.


      Results confirm the utility and performance of screening mammography in the NF1 population. The low utilization of MRI in our cohort limits the evaluation of outcomes via this modality and suggests there may be an education or interest gap among referrers and patients regarding supplemental screening recommendations.


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