Abstract
Women with BRCA mutations, who choose to decline or defer risk-reducing mastectomy, require a highly sensitive breast screening regimen they can begin by age 25 or 30. Meta-analysis of multiple observational studies, in which both mammography and magnetic resonance imaging (MRI) were performed annually, demonstrated a combined sensitivity of 94% for MRI plus mammography compared to 39% for mammography alone. There was negligible benefit from adding screening ultrasound or clinical breast examination to the other two modalities. The great majority of cancers detected were non-invasive or stage I. While the addition of MRI to mammography lowered the specificity from 95% to 77%, the specificity improved significantly after the first round of screening. The median follow-up of women with screen-detected breast cancer in the above observational studies now exceeds 10 years, and the long-term breast cancer-free survival in most of these studies is 90% to 95%. However, ongoing follow-up of these study patients, as well of women screened and treated more recently, is necessary. Advances in imaging technology will make highly sensitive screening accessible to a greater number of high-risk women.
Highlights
Women with BRCA mutations, who choose to decline or defer risk-reducing mastectomy, require a highly sensitive breast screening regimen they can begin by age 25 or 30
Others choose breast conservation after a breast cancer diagnosis and, perhaps surprisingly, a sizable minority are so averse to mastectomy that they opt for repeat lumpectomy even after an ipsilateral cancer recurrence
Even if mammography is not harmful after age 30, is it beneficial? In a report from one centre in the Netherlands, of 94 breast cancers diagnosed in BRCA1 mutation carriers subsequent to the introduction of digital mammography, 88 cases were diagnosed by annual magnetic resonance imaging (MRI) but only two cases were detected by mammography alone, both of these ductal carcinoma in situ (DCIS) in patients over age 50
Summary
For the woman with an inherited BRCA1 or BRCA2 mutation who wishes to do everything possible to avoid developing breast cancer, risk-reducing mastectomy at age 25 is undoubtedly the optimal strategy [1]; for many mutation carriers, other factors may be of equal or greater importance. Some women wish to postpone preventive surgery until they have found an intimate partner, finished childbearing and breast-feeding, or reached an age when their cancer risk becomes unacceptably high. Others choose breast conservation after a breast cancer diagnosis and, perhaps surprisingly, a sizable minority are so averse to mastectomy that they opt for repeat lumpectomy (generally with re-irradiation) even after an ipsilateral cancer recurrence. For all these women who wish to defer or altogether avoid preventive surgery, a breast screening regimen that can reliably detect breast cancer at a stage when the probability of cure is very high is essential
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