Abstract
PurposeBRCA2 mutation carriers are offered annual breast screening with MRI and mammography. The aim of this study was to investigate the supplemental value of mammographic screening over MRI screening alone.MethodsIn this multicenter study, proven BRCA2 mutation carriers, who developed breast cancer during screening using both digital mammography and state-of-art breast MRI, were identified. Clinical data were reviewed to classify cases in screen-detected and interval cancers. Imaging was reviewed to assess the diagnostic value of mammography and MRI, using the Breast Imaging and Data System (BI-RADS) classification allocated at the time of diagnosis.ResultsFrom January 2003 till March 2019, 62 invasive breast cancers and 23 ductal carcinomas in situ were diagnosed in 83 BRCA2 mutation carriers under surveillance. Overall screening sensitivity was 95.2% (81/85). Four interval cancers occurred (4.7% (4/85)). MRI detected 73 of 85 breast cancers (sensitivity 85.8%) and 42 mammography (sensitivity 49.9%) (p < 0.001).Eight mammography-only lesions occurred. In 1 of 17 women younger than 40 years, a 6-mm grade 3 DCIS, retrospectively visible on MRI, was detected with mammography only in a 38-year-old woman. The other 7 mammography-only breast cancers were diagnosed in women aged 50 years and older, increasing sensitivity in this subgroup from 79.5% (35/44) to 95.5% (42/44) (p ≤ 0.001).ConclusionsIn BRCA2 mutation carriers younger than 40 years, the benefit of mammographic screening over MRI was very small. In carriers of 50 years and older, mammographic screening contributed significantly. Hence, we propose to postpone mammographic screening in BRCA2 mutation carriers to at least age 40.
Highlights
Women with a BRCA1 or BRCA2 mutation have a strongly elevated risk of developing breast cancer [1]
Annual screening with MRI and mammography starting at young age is advised for women who do not opt for bilateral prophylactic mastectomy, though the optimal screening regimen is not set yet
According to the Dutch guidelines [9], women with a proven BRCA2 mutation were offered annual breast MRI screening from age 25 till age 60 and annual mammographic screening starting at age 30
Summary
Women with a BRCA1 or BRCA2 mutation have a strongly elevated risk of developing breast cancer [1]. Annual screening with MRI and mammography starting at young age is advised for women who do not opt for bilateral prophylactic mastectomy, though the optimal screening regimen is not set yet. In women with a high familial or genetic risk, breast MRI was originally introduced as an adjunct to mammographic screening. Especially in BRCA1 mutation carriers under the age of 40, there is little benefit of mammographic screening when MRI screening is performed [3,4,5]. The exposure to low-dose ionizing radiation as from annual mammographic screening might be more harmful in BRCA mutation carriers. In BRCA gene mutation carriers, the impaired function of this pathway may lead to a higher risk of radiation-induced breast cancer [6,7,8]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
