Rate of breast biopsy referrals in female BRCA mutation carriers aged 50 years or more: a retrospective comparative study and matched analysis.

PURPOSE: To evaluate the total biopsy and positive biopsy rates in women at high risk of breast cancer compared to the general population. METHODS: The study group consisted of 330 women with pathogenic variants (PVs) in BRCA1/2 attending the dedicated multidisciplinary breast cancer clinic of a tertiary medical center in Israel. Clinical, genetic, and biopsy data were retrieved from the central healthcare database and the medical files. Patients aged 50 years or older during follow-up were matched 1:10 to women in the general population referred for routine breast cancer screening at the same age, as recommended by international guidelines. The groups were compared for rate of biopsy studies performed and percentage of positive biopsy results. Matched analysis was performed to correct for confounders. RESULTS: The total biopsy rate per 1000 follow-up years was 61.7 in the study group and 22.7 in the control group (p < 0.001). The corresponding positive biopsy rates per 1000 follow-up years were 26.4 and 2.0 (p < 0.001), and the positive biopsy percentages, 42.9% and 8.7% (p < 0.0001). CONCLUSION: Women aged 50 + years with PVs in BRCA1/2 attending a dedicated clinic have a 2.7 times higher biopsy rate per 1000 follow-up years, a 13.2 times higher positive biopsy rate per 1000 follow-up years, and a 4.9 times higher positive biopsy percentage than same-aged women in the general population.

MRI diagnosis and follow-up of chest wall and breast desmoid tumours in patients with a history of oncologic breast surgery and silicone implants: A pictorial report.

INTRODUCTION: Breast and chest wall desmoid tumours can cause debilitating symptoms and deformity. The mutilating effects of surgical treatment have prompted a shift to medical treatments and even to a wait-and-see approach. This study sought to highlight specific characteristics of breast and chest wall desmoid tumours on long-term follow-up by sequential MRI scans. METHODS: Thirty-two breast MRI scans from six patients with chest wall or breast desmoid tumours followed up for up to 6 years were retrospectively reviewed. RESULTS: All patients underwent breast surgery prior to the development of the desmoid tumour. Five of the patients had reconstruction or augmentation using silicone implants. Two desmoids were treated primarily with surgery, three with medical means and one is under wait-and-see approach. On MRI, tumours appeared either oval and lobulated (chest wall) or spiculated with architectural distortion (breast). Chest wall desmoids demonstrated both an enhancing high-T2-signal component and a non-enhancing low-T2- signal component. The histologically defined phases during the course of desmoid tumours (progression, regression, residual disease) could be demonstrated by corresponding MRI changes in each of the components. CONCLUSIONS: Magnetic resonance imaging delineates the complex infiltrative features of chest wall and breast desmoid tumours. In tumours with a bright cellular enhancing and dark collagenous non-enhancing component, treatment response may be predicted by changes on serial T2-weighted sequences, beyond the tumour-dimension-based RECIST assessment alone.

Comparison of background parenchymal enhancement and fibroglandular density at breast magnetic resonance imaging between BRCA gene mutation carriers and non-carriers.

OBJECTIVE: High background parenchymal enhancement and amount of fibroglandular tissue on breast magnetic resonance imaging are related to increased breast cancer risk. This study sought to compare these parameters between BRCA mutation carriers and non-carriers and to evaluate the potential implications of the findings for short term follow-up. MATERIALS AND METHODS: Magnetic resonance imaging studies of known BRCA mutation carriers, were compared to age-matched non-carrier studies performed in the same center during the same period. The groups were compared for qualitative background parenchymal enhancement and amount of fibroglandular tissue using the Breast Imaging Reporting and Data System (BI-RADS). RESULTS: Breast parenchymal enhancement was high in up to one-third of the cohort: 22% of carriers and 33% of controls (p = 0.013). These results were sustained on separate analysis of menstrual-cycle-timed examinations. Amount of fibroglandular tissue was high in most cases: 62% of carriers and 75% of controls (p = 0.004). A BI-RADS final assessment score of 3 was more common in patients with high parenchymal enhancement, especially controls. CONCLUSION: BRCA mutation carriers demonstrated lower levels of breast parenchymal enhancement and amount of fibroglandular tissue than age-matched non-carriers. These differences are probably influenced by hormonal status, as well as highlight different risks in distinctive subgroups of breast cancer (hormone-enriched, mutation-associated defective DNA damage repair), affecting considerations of preventive medical treatment. Differences in the indications for imaging between the carrier and non-carrier groups (screening for mutations and breast cancer evaluation, respectively) probably accounted for the higher rate of BI-RADS 3 in the control group.