MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations
Authors: Lubinski Jan , Kotsopoulos Joanne , Moller Pal , Pal Tuya , Eisen Andrea , Peck Larissa , Karlan Beth Y. , Aeilts Amber , Eng Charis , Bordeleau Louise , Foulkes William D. , Tung Nadine , Couch Fergus J. , Fruscio Robert , Ramon y Cajal Teresa , Singer Christian F. , Neuhausen Susan L. , Zakalik Dana , Cybulski Cezary , Gronwald Jacek , Huzarski Tomasz , Stempa Klaudia , Dungan Jeffrey , Cullinane Carey , Olopade Olufunmilayo I. , Metcalfe Kelly , Sun Ping , Narod Steven A. ,   Hereditary Breast Cancer Clinical Study Group, Sweet Kevin , Senter Leigha , Saal Howard , Velsher Lea , Armel Susan , McCuaig Jeanna , Panchal Seema , Poll Aletta , Lemire Edmond , Serfas Kim , Reilly Robert , Costalas Josephine , Cohen Stephanie , Blum Joanne 
Published: February 2024

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 &amp;lt; .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.