- The BRCA2 mutation is tied to a higher incidence of central nervous system (CNS) metastasis in breast cancer.
- No association found for BRCA1+ status.
Why this matters
- First study to present a link between BRCA2+status and CNS involvement.
- Retrospective study (n=332) of all patients treated for recurrent breast cancer who underwent BRCA testing (1981-2014) at the Dana-Farber Cancer Institute.
- Funding: None disclosed.
- 73% of BRCA1+ patients had triple-negative breast cancer (TNBC), whereas 72% of BRCA2+ patients had hormone receptor-positive primary tumors.
- The most common type of metastasis (as first/subsequent metastases) varied by BRCA status:
- 50% of BRCA1+ carriers had lung metastases and 50% had distant lymph node metastasis.
- 75% of BRCA2+ carriers and 53% of noncarriers had bone metastasis.
- In univariate analysis, CNS disease was common among BRCA1+ (53%) and BRCA2+carriers vs noncarriers (53% and 50% vs 25%).
- In multivariate analysis, only the BRCA2 mutation (OR, 3.33; P=.006 vs noncarrier) was associated with CNS metastasis after controlling for tumor subtype.
- Cancer-related mortality was more likely with:
- BRCA2+status vs noncarriers (HR, 1.82; P=.01).
- TNBC primary subtype vs other subtypes (HR, 4.22; P<.01>
- CNS involvement vs locoregional/contralateral disease (HR, 10.91; P<.001>
- Retrospective, observational design.
- Single-institution study.