Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers

Abstract

Background While breast cancer screening with mammography and MRI is recommended for BRCA mutation carriers, there is no current consensus on the optimal screening regimen. Methods We used a computer simulation model to compare six annual screening strategies [film mammography (FM), digital mammography (DM), FM and magnetic resonance imaging (MRI) or DM and MRI contemporaneously, and alternating FM/MRI or DM/MRI at six-month intervals] beginning at ages 25, 30, 35, and 40, and two strategies of annual MRI with delayed alternating DM/FM to clinical surveillance alone. Strategies were evaluated without and with mammography-induced breast cancer risk, using two models of excess relative risk. Input parameters were obtained from the medical literature, publicly available databases, and calibration. Results Without radiation risk effects, alternating DM/MRI starting at age 25 provided the highest life expectancy (BRCA1: 72.52 years, BRCA2: 77.63 years). When radiation risk was included, a small proportion of diagnosed cancers were attributable to radiation exposure (BRCA1: <2%, BRCA2: <4%). With radiation risk, alternating DM/MRI at age 25 or annual MRI at age 25/delayed alternating DM at age 30 were most effective, depending on the radiation risk model used. Alternating DM/MRI starting at age 25 also had the highest number of false-positive screens/person (BRCA1: 4.5, BRCA2: 8.1). Conclusions Annual MRI at 25/delayed alternating DM at age 30 is likely the most effective screening strategy in BRCA mutation carriers. Screening benefits, associated risks and personal acceptance of false-positive results, should be considered in choosing the optimal screening strategy for individual women.

Breast Cancers Detected at Screening MR Imaging and Mammography in Patients at High Risk: Method of Detection Reflects Tumor Histopathologic Results

“…In many studies, mammography and MR imaging were performed within 90 days of one another (10, 15,33). A modeling study reported that the most efficacious screening strategy for carriers of BRCA mutation was to start screening with MR imaging annually at age 25 and to add annual mammography at age 30, staggering the two examinations at six month intervals (34). In our study, the decision to perform both studies synchronously or at 6-month intervals was determined by the patient and her clinician.…”

Radiation induced breast cancer risk in BRCA mutation carriers from low-dose radiological exposures: a systematic review

“…Then, the following criteria were applied: modeling studies were eligible when evaluating the radiation induced risk in BRCA1/2 mutation carriers; clinical case-control or cohort studies were included if estimating the BC risk in BRCA mutation carriers who underwent mammography or chest X-ray (CXR) or any kind of radiological breast exposures. Computer simulation models comparing radiological screening strategies such as Lowry and colleagues' article (Lowry et al, 2012) are not in the scope of this review dedicated to radiation-induced BC effects.…”

Should we individualize breast cancer screening?

“…The FH01 trial has shown evidence of a reduction in advanced stage disease with yearly mammographic surveillance in women aged 40-49 years with a medium familial risk of breast cancer [20]. In BRCA mutated women, it seems that annual MRI at age 25 and delayed alternating digital mammography at age 30 is probably the most effective screening strategy, despite false positives and radio-induced cancers [21].…”