ArticleOncotarget2015
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Discordance of PIK3CA mutational status between primary and metastatic breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2023Pooled it
- RB1-I680T mutation potentiates tumor growth and chemotherapy sensitivity in non-small cell lung cancer via derepressing E2F1 transcription.Cell communication and signaling : CCS · 2026Article
- Review
- The epigenetic landscape of brain metastasis.Oncogene · 2025Review
- Breast cancer brain metastases genomic profiling identifies alterations targetable by immune-checkpoint and PARP inhibitors.NPJ precision oncology · 2024Article
- Tumor-on-chip platforms for breast cancer continuum concept modeling.Frontiers in bioengineering and biotechnology · 2024Review
- Mutant p53 sustains serine-glycine synthesis and essential amino acids intake promoting breast cancer growth.Nature communications · 2023Article
- Brain metastasis in breast cancer: focus on genes and signaling pathways involved, blood-brain barrier and treatment strategies.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Review
- A review on genetic alterations in CNS metastases related to breast cancer treatment. Is there a role for liquid biopsies in CSF?Journal of neuro-oncology · 2023Review
- Beyond Genetics: Metastasis as an Adaptive Response in Breast Cancer.International journal of molecular sciences · 2022Review
- Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.Scientific reports · 2021Article
- Immune response pathways enriched in breast cancer samples with brain metastasis.Gland surgery · 2021Article
- Genomic profiling using the UltraSEEK panel identifies discordancy between paired primary and breast cancer brain metastases and an association with brain metastasis-free survival.Breast cancer research and treatment · 2021Article
- Brain Metastasis Treatment: The Place of Tyrosine Kinase Inhibitors and How to Facilitate Their Diffusion across the Blood-Brain Barrier.Pharmaceutics · 2021Review
- Molecular Mechanisms Associated with Brain Metastases in HER2-Positive and Triple Negative Breast Cancers.Cancers · 2021Review
- Breast Cancer Brain Metastasis-Overview of Disease State, Treatment Options and Future Perspectives.Cancers · 2021Review
- Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations for brain metastases and prognosis.Oncology letters · 2021Article
- Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore.BMC neurology · 2020Article
- Management of Brain and Leptomeningeal Metastases from Breast Cancer.International journal of molecular sciences · 2020Review
- Prediction of breast cancer proteins involved in immunotherapy, metastasis, and RNA-binding using molecular descriptors and artificial neural networks.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
21 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although breast cancer is the second most common cause of brain metastasis with a notable increase of incidence, genes that mediate breast cancer brain metastasis (BCBM) are not fully understood. To study the molecular nature of brain metastasis, we performed gene expression profiling of brain metastasis and matched primary breast cancer (BC). We used the Ion AmpliSeq Cancer Panel v2 covering 2,855 mutations from 50 cancer genes to analyze 18 primary BC and 42 BCBM including 15 matched pairs. The most common BCBM subtypes were triple-negative (42.9%) and basal-like (36.6%). In a total of 42 BCBM samples, 32 (76.2%) harbored at least one mutation (median 1, range 0-7 mutations). Frequently detected somatic mutations included TP53 (59.5%), MLH1 (14.3%), PIK3CA (14.3%), and KIT (7.1%). We compared BCBM with patient-matched primary BC specimens. There were no significant differences in mutation profiles between the two groups. Notably, gene expression in BCBM such as TP53, PIK3CA, KIT, MLH1, and RB1 also seemed to be present in primary breast cancers. The TP53 mutation frequency was higher in BCBM than in primary BC (59.5% vs 38.9%, respectively). In conclusion, we found actionable gene alterations in BCBM that were maintained in primary BC. Further studies with functional testing and a delineation of the role of these genes in specific steps of the metastatic process should lead to a better understanding of the biology of metastasis and its susceptibility to treatment.
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