Clinical Edge

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BRCA Mutations Confer High Risk of CNS Metastases

Key clinical point: Central nervous system involvement is common among patients with germline BRCA1/BRCA2 mutations who have newly recurrent breast cancer.

Major finding: Prevalence of CNS disease was 25% in noncarriers, but 53% in BRCA1 mutation carriers (multivariate odds ratio, 2.11; P = .18) and 50% in BRCA2 mutation carriers (multivariate odds ratio, 3.33; P less than .006).

Study details: Single-center retrospective cohort study of 332 patients with a first locoregional or metastatic recurrence: 30 BRCA1 mutation carriers, 32 BRCA2 mutation carriers, and 270 noncarriers.

Disclosures: Dr. Lin disclosed that she receives research funding (to her institution) from Pfizer, Kadmon, Array Biopharma, and Merck; research funding and personal fees from Roche/Genentech, Seattle Genetics, and Novartis; and personal fees from Shionogi, Kadmon, Puma, and Daiichi Sankyo, all outside the study. The study was supported by grants from the Breast Cancer Research Foundation.


Song Y et al. Cancer. 2019 Oct 3. doi: 10.1002/cncr.32540.