Long-term results of screening with magnetic resonance imaging in women with BRCA mutations

Abstract

Background:The addition of breast magnetic resonance imaging (MRI) to screening mammography for women with BRCA mutations significantly increases sensitivity, but there is little data on clinical outcomes. We report screening performance, cancer stage, distant recurrence rate, and breast cancer-specific mortality in our screening study.Methods:From 1997 to 2009, 496 women aged 25 to 65 years with a known BRCA1/2 mutation, of whom 380 had no previous cancer history, were enrolled in a prospective screening trial that included annual MRI and mammography.Results:In 1847 screening rounds, 57 cancers were identified (53 screen-detected, 1 interval, and 3 incidental at prophylactic mastectomy), of which 37 (65%) were invasive. Sensitivity of MRI vs mammography was 86% vs 19% over the entire study period (P<0.0001), but was 74% vs 35% from 1997 to 2002 (P=0.02) and 94% vs 9% from 2003 to 2009 (P<0.0001), respectively. The relative sensitivities of MRI and mammography did not differ by mutation, age, or invasive vs non-invasive disease. Of the incident cancers, 97% were Stage 0 or 1. Of 28 previously unaffected women diagnosed with invasive cancer, 1 BRCA1 mutation carrier died following relapse of a 3 cm, node-positive breast cancer diagnosed on her first screen at age 48 (annual breast cancer mortality rate=0.5%). Three patients died of other causes. None of the 24 survivors has had a distant recurrence at a median follow-up of 8.4 years since diagnosis.Conclusion:Magnetic resonance imaging surveillance of women with BRCA1/2 mutations will detect the majority of breast cancers at a very early stage. The absence of distant recurrences of incident cancers to date is encouraging. However, longer follow-up is needed to confirm the safety of breast surveillance.

Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis

“…Our data concerning early detection are in concordance with the mentioned literature [17][18][19][20]. In the surveillance group 76% of the BCs were detected at favourable stages (DCIS or T1N0).…”

“…So far, survival after BRRM is only studied in mathematical simulation models describing an improved survival for women who opt for riskreducing surgery [12][13][14][15][16], although Kurian et al [14,16] estimated that screening by means of mammography and MRI plus RRSO results in almost similar survival when compared with BRRM combined with RRSO, suggesting that intensive MRI-based surveillance might be a reasonable alternative to BRRM. Arguments to support the latter are (1) MRI detects BC at an early stage in BRCA1/2 mutation carriers [17][18][19][20], (2) in a prospective MRI-detected series of BRCA1/2-associated patients the 5-year cumulative overall survival was 93% (95% CI 79% to 98%) [21], (3) broad implementation of (neo) adjuvant systemic therapy in recent years results in improved BC survival [22].…”

Reflections on Screening Mammography and the Early Detection of Breast Cancer

“…I am also among the authors of several publications on the benefits of screening by magnetic resonance imaging (mri) in high-risk women [16][17][18] . Those studies were greeted as successes, given that they demonstrated how, with the use of mri, breast cancers could be downstaged.…”

Coming of Age in Canada: A Study of Population-Based Genetic Testing for Breast and Ovarian Cancer

“…Intensified screening for mutation carriers with annual magnetic resonance imaging is advocated and is increasingly available 10 . Additionally, women with hereditary breast cancer can benefit from personalized treatment (both surgical and medical), which might include bilateral mastectomy, salpingo-oophorectomy, and tailored chemotherapy (cis-platinum or olaparib) 11 .…”