Abstract
Purpose
Screening with mammography and breast magnetic resonance imaging (MRI) is an important risk management strategy for individuals with inherited pathogenic variants (PVs) in genes associated with increased breast cancer risk. We describe longitudinal screening adherence in individuals who underwent cancer genetic testing as part of usual care in a vertically integrated health system.
Methods
We determined the proportion time covered (PTC) by annual mammography and breast MRI for individuals with PVs in TP53, BRCA1, BRCA2, PALB2, NF1, CHEK2, and ATM. We determined time covered by biennial mammography beginning at age 50 years for individuals who received negative results, uncertain results, or with PVs in genes without specific breast cancer screening recommendations.
Results
One hundred and forty individuals had PVs in TP53, BRCA1, BRCA2, PALB2, NF1, CHEK2, or ATM. Among these individuals, average PTC was 48% (range 0–99%) for annual screening mammography and 34% (range 0–100%) for annual breast MRI. Average PTC was highest for individuals with PVs in CHEK2 (N = 14) and lowest for individuals with PVs in TP53 (N = 3). Average PTC for biennial mammography (N = 1,027) was 49% (0–100%).
Conclusion
Longitudinal screening adherence in individuals with PVs in breast cancer associated genes, as measured by the proportion of time covered, is low; adherence to annual breast MRI falls below that of annual mammography. Additional research should examine screening behavior in individuals with PVs in breast cancer associated genes with a goal of developing interventions to improve adherence to recommended risk management.
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Data Availability
Enquiries about data availability should be directed to the authors.
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Acknowledgements
This work was supported by the Clinical Sequencing Evidence-Generating Research (CSER) consortium funded by the National Human Genome Research Institute with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI). The CSER consortium represents a diverse collection of projects investigating the application of genome-scale sequencing in different clinical settings including pediatric and adult subspecialties, germline diagnostic testing and tumor sequencing, and specialty and primary care.
Funding
This work was primarily supported by the National Institutes of Health: U01HG007292 (MPIs: Wilfond, Goddard), U24HG007307 (PI: G. Jarvik); K08HG010488 (PI: S. Knerr).
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Conceptualization: SK, BG, KJW, KFM, BD, KABG; Data curation: BG, MJG, EK, JMZ; Formal analysis: SK, BG; Funding acquisition: SK, KJW, GJ, SO, DLV, BSW, KABG, TLK; Project administration: TLK, KRM. Supervision: KJW, KABG, Writing-original draft SK, B.G., KJW, KFM, BD, KABG; Writing-reviewing & editing: SK, BG, KJW, KFM, HSF, MJG, GPJ, TLK, EK, EGL, FLL, KRM, SO, DLV, JMV, BSW, BD, KABG.
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The authors have no conflicts of interest outside the grant funding listed in the funding section.
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The study was approved by the Kaiser Permanente Northwest Institutional Review Board with a waiver of informed consent.
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Knerr, S., Guo, B., Wernli, K.J. et al. Longitudinal adherence to breast cancer surveillance following cancer genetic testing in an integrated health care system. Breast Cancer Res Treat 201, 461–470 (2023). https://doi.org/10.1007/s10549-023-07007-w
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DOI: https://doi.org/10.1007/s10549-023-07007-w