Evidence map›Paper›PMID 40279051›Full record

ArticleBreast cancer research and treatment2025

Brain metastases in patients with metastatic breast cancer and BRCA1/2 mutations in cell-free DNA.

Neelima Vidula, Erica Blouch, Katherine Hesler, Andrzej Niemierko, Aditya Bardia

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Article in Breast cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

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1citing papers in PubMed, 1 pooled it
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Neelima VidulaMassachusetts General Hospital Cancer Center, Boston, MA, 02114, USA. nvidula@mgh.harvard.edu.
Erica BlouchMassachusetts General Hospital Cancer Center, Boston, MA, 02114, USA.
Katherine HeslerMassachusetts General Hospital Cancer Center, Boston, MA, 02114, USA.
Andrzej NiemierkoMassachusetts General Hospital Cancer Center, Boston, MA, 02114, USA.
Aditya BardiaMassachusetts General Hospital Cancer Center, Boston, MA, 02114, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeBrain metastases (BM) in patients with metastatic breast cancer (MBC) cause significant morbidity/mortality. A relatively high prevalence of BM is seen in patients with germline BRCA1/2 mutations. Some patients with MBC have somatic BRCA1/2 mutations but the prevalence of BM in this setting is not known.

methodsHere, we evaluated the prevalence and clinical and genomic characteristics of BM in patients with MBC with somatic BRCA1/2 mutations in cell-free DNA (cfDNA) using the Guardant360 assay. Clinical and genomic features of patients with somatic BRCA1/2 mutations and brain metastases, and those without brain metastases were compared using a Chi-squared test for categorical variables and Wilcoxon rank-sum test for continuous variables.

resultsOf 36 patients with MBC and somatic BRCA1/2 mutations, 9 (25%) developed BM. The median time to development of BM was 6.7 months after somatic BRCA detection by cfDNA testing. Among patients with BM, somatic BRCA mutations were commonly BRCA1, clonal, and present at a higher mutant allelic fraction. The coexisting genomic landscape in patients with BM commonly included PIK3CA, TP53, MYC, EGFR, CCNE1, and KIT mutations.

conclusionA relatively high prevalence of BM in patients with MBC harboring cfDNA somatic BRCA1/2 mutations was observed. CfDNA somatic BRCA1/2 mutations may help identify patients with MBC at risk for BM. To our knowledge, this is the first report linking cfDNA somatic BRCA mutations with BM, and requires further investigation in additional datasets and studies.

Indexed as

Brain NeoplasmsBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCell-Free Nucleic AcidsMutationAdultAgedBiomarkers, TumorFemaleHumansMiddle AgedBiomarkers, TumorBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCell-Free Nucleic AcidsBrain metastasesCell-free DNAMetastatic breast cancerSomatic BRCA mutations

Identifiers

PMID40279051

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.