Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Oct;128(20):3709-3717.
doi: 10.1002/cncr.34429. Epub 2022 Aug 23.

Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes

Sukh Makhnoon  1 , Minxing Chen  2 , Brooke Levin  3 , Megan Ensinger  4 , Kristin D Mattie  3 , Generosa Grana  3 , Sanjay Shete  5 , Banu K Arun  6 , Susan K Peterson  1
Affiliations

Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes

Sukh Makhnoon et al. Cancer. 2022 Oct.

Abstract

Background: Use of surveillance mammography and magnetic resonance imaging (MRI) has been understudied among women with variant of uncertain significance (VUS) compared to pathogenic and likely pathogenic variants (P/LP).

Methods: Using data from two cancer settings, we calculated use of risk-reducing mastectomy (RRM) and surveillance during each 13-month span after genetic testing up to 6 years afterwards for a cohort of genetically elevated risk women.

Results: Of 889 women, VUS carriers were less likely to undergo RRM compared to those with P/LP (hazard ratio [HR], 0.17; p = <.001) and high-risk women were more likely to undergo RRM than average-risk women (HR, 3.91; p = .005). Longitudinally, surveillance use among unaffected women decreased from 49.8% in the first year to 31.2% in the sixth year after genetic testing. In comparison, a greater proportion of women with a personal history of breast cancer underwent surveillance, which increased from 59.3% in the first year to 63.6% in the sixth year after genetic testing. Mammography rates did not differ between women with P/LP and VUS within the first 13 months after genetic testing and up to 4 years afterward. Over the first 4 years after genetic testing, women with VUS were less likely to undergo annual MRIs compared to P/LP.

Conclusion: The authors found that VUS, whether in high or moderate penetrance breast cancer susceptibility genes, was associated with lower use of annual breast MRI compared to P/LP variants and equivalent use of annual mammography. These results add important evidence regarding VUS-related breast surveillance.

Keywords: breast; cancer MRI; mammography; surveillance; variant of uncertain significance.

PubMed Disclaimer

Conflict of interest statement

Conflicts of interest: The authors have no relevant financial or non-financial interests to disclose.

Figures

Figure 1.
Figure 1.
Risk management behaviors by genetic test result 6 years after genetic testing. RRM= Risk reducing mastectomy. P/LP: pathogenic or likely pathogenic; VUS: variant of uncertain significance
Figure 2
Figure 2
Percentage of women with personal history of breast cancer who had each type of breast imaging by years from genetic testing.
Figure 3
Figure 3
Percentage of women without personal history of breast cancer who had each type of breast imaging by years from genetic testing.
See this image and copyright information in PMC

References

    1. Daly MB, Pal T, Berry MP, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77–102. - PubMed
    1. van Dijk S, Otten W, Timmermans DRM, et al. What’s the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer. Genetics in Medicine. 2005;7(4):239–245. - PubMed
    1. Ruddy KJ, Sangaralingham L, Freedman RA, et al. Adherence to Guidelines for Breast Surveillance in Breast Cancer Survivors. J Natl Compr Canc Netw. 2018;16(5):526–534. - PubMed
    1. Geller BM, Kerlikowske K, Carney PA, et al. Mammography surveillance following breast cancer. Breast Cancer Res Treat. 2003;81(2):107–115. - PubMed
    1. Peshkin BN, Schwartz MD, Isaacs C, Hughes C, Main D, Lerman C. Utilization of Breast Cancer Screening in a Clinically Based Sample of Women after <strong>BRCA1/2</strong> Testing. Cancer Epidemiology Biomarkers & Prevention . 2002;11(10):1115–1118. - PubMed

Publication types