Abstract

Introduction: Breast cancer susceptibility gene (BRCA) mutations are well-known causes of systemic cancers. We have previously identified that those with BRCA mutations have a higher likelihood of cerebral microbleeds (CMBs) on brain MRI compared to BRCA wildtype. We aimed to confirm our prior findings in a subsequent cohort. Methods: We performed a single-center retrospective review of all individuals with a confirmed diagnosis of BRCA 1 or 2 mutation and a standard-of-care brain MRI. All individuals were ≥ 18 years old, without intracranial radiation, cerebral metastases, or other cerebral processes which may impact interpretation. Our comparative cohort were individuals with breast cancer who have a genetically confirmed BRCA wildtype status. The primary outcome was the presence of CMBs, defined by consensus criteria. Standard descriptive techniques were used. Likelihood ratios were calculated by binary logistic regression and adjusted for significant variables. Results: We identified 49 individuals who met inclusion criteria: 15 with BRCA mutation and 34 with BRCA wildtype. Only one patient was with aspirin use in the BRCA mutation cohort. All cancers were of breast origin with 4 BRCA mutations patients with cancer staging ≥ 3 compared with 14 in the BRCA wildtype cohort. Chemotherapy rates did not differ. Patients with BRCA were younger, less often with hyperlipidemia, and more commonly had CMBs, Table 1. The presence of BRCA mutation trended towards higher odds of having a CMB (OR 5.8, 95%CI 0.93 - 36.16, p = 0.059) after adjustment for age and hyperlipidemia. Conclusion: We found that CMBs were more common in the BRCA mutation cohort, with a trend towards a 5-fold higher likelihood in the regression analysis. While underpowered, our findings support prior data highlighting this association. Further studies with larger sample sizes are warranted.

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