Breast imaging recommendations for young females (age < 40 years) with ≥ 20% lifetime breast cancer risk: practice patterns at a specialized clinic

Abstract

Purpose: The National Comprehensive Cancer Network (NCCN) and American Cancer Society (ACS) endorse differing guidelines for screening breast imaging among young females with familial breast cancer risk not driven by a germline pathogenic variant (PV). We sought to characterize practice patterns in our high-risk breast clinic related to screening breast imaging in this population.

Methods: We identified all females aged 25-39 years with a first- or second-degree relative (FDR/SDR) with breast cancer and estimated lifetime breast cancer risk of ≥ 20% by the Tyrer-Cuzick (TC) version 7 model. Those with known PV in a breast cancer gene were excluded. We described provider recommendations for age to initiate screening and use of supplemental imaging modalities.

Results: Among 334 included patients, 218 (65.3%) had an FDR with breast cancer and 116 (34.7%) had SDRs only. Screening prior to age 40 was recommended to 233 (69.8%) patients and varied by extent of family history and age of the youngest affected relative. Only a minority (24.1-27.0%) of recommendations aligned with NCCN or ACS guidelines. For the remaining patients, 82.2% and 48.7% were recommended to initiate screening younger than the NCCN or ACS guideline, respectively. Supplemental imaging with MRI or whole breast ultrasound was offered to 219 (65.6%) patients.

Conclusion: Even in a specialized clinic, there is substantial variation in breast imaging recommendations for young females with elevated breast cancer risk based on family history. As formal risk assessment is increasingly adopted in clinical practice, this population should be a priority for future screening imaging studies.

Keywords: Breast cancer screening; Breast imaging; Family history; High-risk for breast cancer; Young women.