ArticleBMC cancer2025
Novel insight of critical genes involved in breast cancer brain metastasis: evidence from a cross-tissue transcriptome association study and validation through external clinical cohorts.
Article in BMC cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- A novel triaptosis-related prognostic signature to assess the clinical value in HER2-low breast cancer: evidence from clinical cohorts and experimental validation.Apoptosis : an international journal on programmed cell death · 2026Article
- Identification of candidate susceptibility genes for cutaneous malignant melanoma through integrated multi-method analysis.Discover oncology · 2025Article
- Case Report: Pathological complete response yet early brain relapse in HER2-positive breast cancer: a case-based review.Frontiers in immunology · 2025Review
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8 authors.
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Abstract
backgroundBreast cancer represents the most prevalent form of tumors among females and is characterized by a significant genetic component. The brain is a frequent site of metastasis for breast cancer. Although numerous loci associated with breast cancer brain metastasis (BCBM) have been identified, the critical regulatory genes underlying BCBM remain largely unclear.
methodsThe FinnGen R11 dataset was combined with Genotype-Tissue Expression Project (GTEx) for Transcriptome-wide Association Study (TWAS). The Unified Test for Molecular Signatures (UTMOST), Multimarker Analysis of Genomic Annotation (MAGMA), and Functional Summary-based Imputation (FUSION) were used to identify candidate genes. Summary-data-based mendelian randomization (SMR) and co-localization were performed further to elucidate the association between key genes and BCBM. Finally, multiple external cohorts were obtained to validate the findings.
resultIn our study, 12 new genes associated with breast cancer were identified with TWAS. Subsequently, both SMR and co-localization have shown that CAPS8 was only expressed in brain tissues including frontal cortex and cerebellar hemispheres associated with breast cancer. Potential regulation of CASP8 could occur in BCBM. Finally, the findings were ultimately validated by external clinical cohorts.
conclusionOur study identified key gene CASP8, which was associated with BCBM, providing new insights into the occurrence of BCBM.
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