Utilizing cell-free DNA to predict risk of developing brain metastases in patients with metastatic breast cancer.
Journal
NPJ breast cancer
ISSN: 2374-4677
Titre abrégé: NPJ Breast Cancer
Pays: United States
ID NLM: 101674891
Informations de publication
Date de publication:
19 Apr 2023
19 Apr 2023
Historique:
received:
27
06
2022
accepted:
30
03
2023
medline:
20
4
2023
pubmed:
20
4
2023
entrez:
19
04
2023
Statut:
epublish
Résumé
We compared cell-free DNA (cfDNA) results at MBC diagnosis in patients who developed brain metastases (BM) vs those without (non-BM) to understand genomic predictors of BM. Patients with cfDNA testing at MBC diagnosis (Guardant360®, 73 gene next generation sequencing) were identified. Clinical and genomic features of BM and non-BM were compared (Pearson's/Wilcoxon rank sum tests). Eighteen of 86 patients (21%) with cfDNA at MBC diagnosis developed BM. Comparing BM vs non-BM, a higher prevalence of BRCA2 (22% vs 4.4%, p = 0.01), APC (11% vs 0%, p = 0.005), CDKN2A (11% vs 1.5%, p = 0.05), and SMAD4 (11% vs 1.5%, p = 0.05) was observed. Seven of 18 BM had ≥1 of the following 4 mutations in baseline cfDNA: APC, BRCA2, CDKN2A or SMAD4 vs 5/68 non-BM (p = 0.001). Absence of this genomic pattern had a high negative predictive value (85%) and specificity (93%) in excluding BM development. Baseline genomic profile varies in MBC that develops BM.
Identifiants
pubmed: 37076495
doi: 10.1038/s41523-023-00528-z
pii: 10.1038/s41523-023-00528-z
pmc: PMC10115848
doi:
Types de publication
Journal Article
Langues
eng
Pagination
29Informations de copyright
© 2023. The Author(s).
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