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. 2024 Apr 1;10(4):493-499.
doi: 10.1001/jamaoncol.2023.6944.

MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Jan Lubinski  1 , Joanne Kotsopoulos  2   3 , Pal Moller  4 , Tuya Pal  5 , Andrea Eisen  6 , Larissa Peck  7 , Beth Y Karlan  8 , Amber Aeilts  9 , Charis Eng  10 , Louise Bordeleau  11 , William D Foulkes  12 , Nadine Tung  13 , Fergus J Couch  14 , Robert Fruscio  15 , Teresa Ramon Y Cajal  16 , Christian F Singer  17 , Susan L Neuhausen  18 , Dana Zakalik  19 , Cezary Cybulski  1 , Jacek Gronwald  1 , Tomasz Huzarski  1 , Klaudia Stempa  1 , Jeffrey Dungan  20 , Carey Cullinane  21 , Olufunmilayo I Olopade  22 , Kelly Metcalfe  1   23 , Ping Sun  2 , Steven A Narod  2   3 ; Hereditary Breast Cancer Clinical Study Group
Collaborators, Affiliations

MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Jan Lubinski et al. JAMA Oncol. .

Abstract

Importance: Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined.

Objective: To compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not.

Design, setting, and participants: Women with a BRCA1 or BRCA2 sequence variation were identified from 59 participating centers in 11 countries. Participants completed a baseline questionnaire between 1995 and 2015 and a follow-up questionnaire every 2 years to document screening histories, incident cancers, and vital status. Women who had breast cancer, a screening MRI examination, or bilateral mastectomy prior to enrollment were excluded. Participants were followed up from age 30 years (or the date of the baseline questionnaire, whichever was later) until age 75 years, the last follow-up, or death from breast cancer. Data were analyzed from January 1 to July 31, 2023.

Exposures: Entrance into an MRI surveillance program.

Main outcomes and measures: Cox proportional hazards modeling was used to estimate the hazard ratios (HRs) and 95% CIs for breast cancer mortality associated with MRI surveillance compared with no MRI surveillance using a time-dependent analysis.

Results: A total of 2488 women (mean [range] age at study entry 41.2 [30-69] years), with a sequence variation in the BRCA1 (n = 2004) or BRCA2 (n = 484) genes were included in the analysis. Of these participants, 1756 (70.6%) had at least 1 screening MRI examination and 732 women (29.4%) did not. After a mean follow-up of 9.2 years, 344 women (13.8%) developed breast cancer and 35 women (1.4%) died of breast cancer. The age-adjusted HRs for breast cancer mortality associated with entering an MRI surveillance program were 0.20 (95% CI, 0.10-0.43; P < .001) for women with BRCA1 sequence variations and 0.87 (95% CI, 0.10-17.25; P = .93) for women with BRCA2 sequence variations.

Conclusion and relevance: Results of this cohort study suggest that among women with a BRCA1 sequence variation, MRI surveillance was associated with a significant reduction in breast cancer mortality compared with no MRI surveillance. Further studies of women with BRCA2 sequence variations are needed to ascertain these women obtain the same benefits associated with MRI surveillance.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Kotsopoulos reported receiving a Tier I Canada Research Chair outside the submitted work. Dr Pal reported receiving personal fees from Natera, Inc outside the submitted work. Ms Peck reported receiving personal fees from AstraZeneca and Merck Canada and a grant from The Princess Margaret Cancer Foundation outside the submitted work. Dr Foulkes reported receiving a grant from the Canadian Institutes of Health Research during the conduct of the study. Dr Tung reported receiving a grant and personal fees from AstraZeneca outside the submitted work. Dr Couch reported receiving a grant from the National Institutes of Health during the conduct of the study. Dr Singer reported receiving grants from AstraZeneca and Amgen Inc outside the submitted work. Dr Neuhausen reported receiving a grant from the National Cancer Institute during the conduct of the study. Dr Olopade reported serving as cofounder of CancerIQ; serving on the advisory boards of Tempus and 54gene; and receiving grants from F. Hoffmann-La Roche and Color Health outside the submitted work. Dr Narod reported receiving a Tier I Canada Research Chair outside the submitted work. No other disclosures were reported.

Figures

Figure 1.
Figure 1.. Incidence of Breast Cancer Over 20 Years of Follow-Up in Women with BRCA1 or BRCA2 Sequence Variations Stratified by Magnetic Resonance Imaging (MRI) Surveillance Status
The follow-up for the MRI surveillance group started at the date of first screening MRI examination; follow-up for the no MRI surveillance group started at baseline. If age at baseline was 30 years or younger, follow-up started at age 30 years.
Figure 2.
Figure 2.. Breast Cancer Mortality Over 20 Years in Women with BRCA1 or BRCA2 Sequence Variations, By Magnetic Resonance Imaging (MRI) Surveillance Status
The follow-up for the MRI surveillance group started at the date of first screening MRI examination; follow-up for the no MRI surveillance group started at baseline. If age at baseline was 30 years or younger, follow-up started at age 30 years.
See this image and copyright information in PMC

Comment in

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