Observational studyJournal of neuro-oncology2017
Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.
Observational study in Journal of neuro-oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- An Open-Label, Single-Arm, Two-Stage, Multicenter, Phase II Study to Evaluate the Efficacy of TLC388 and Genomic Analysis for Poorly Differentiated Neuroendocrine Carcinomas.The oncologist · 2020Trial
- Somatic BRCA alterations in breast cancer are associated with distinct biological and clinical patterns according to germline BRCA status.ESMO open · 2026Article
- Brain metastases among patients with gynecologic cancers: a single-centre retrospective study of patients treated with brain radiotherapy.Journal of neuro-oncology · 2026Article
- PARP Inhibitors in Brain Metastases from Epithelial Ovarian Cancer through a Multimodal Patient Journey: Case Reports and Literature Review.International journal of molecular sciences · 2024Review
- Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.BMC cancer · 2024Article
- Description of a Retrospective Cohort of Epithelial Ovarian Cancer Patients with Brain Metastases: Evaluation of the Role of PARP Inhibitors in this Setting.Journal of clinical medicine · 2023Article
- Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.Scientific reports · 2022Article
- Incidence and impact of brain metastasis in patients with hereditary BRCA1 or BRCA2 mutated invasive breast cancer.NPJ breast cancer · 2022Article
- Tumor immune microenvironment in brain metastases from gynecologic malignancies.Cancer immunology, immunotherapy : CII · 2021Article
- Article
- A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.Scientific reports · 2021Article
- The Exocrine Differentiation and Proliferation Factor (EXDPF) Gene Promotes Ovarian Cancer Tumorigenesis by Up-Regulating DNA Replication Pathway.Frontiers in oncology · 2021Article
- The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China.Scientific reports · 2020Article
- Brain Metastases from Ovarian Cancer: Current Evidence in Diagnosis, Treatment, and Prognosis.Cancers · 2020Review
- Validation of Androgen Receptor loss as a risk factor for the development of brain metastases from ovarian cancers.Journal of ovarian research · 2020Article
- Article
- Niraparib as Maintenance Therapy in Germline ATM-mutated and SomaticOncoTargets and therapy · 2020Article
- Prognostic impact of platinum sensitivity in ovarian carcinoma patients with brain metastasis.BMC cancer · 2019Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- Genetic Characterization of Brain Metastases in the Era of Targeted Therapy.Frontiers in oncology · 2017Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Ovarian cancer represents the most common gynaecological malignancy and has the highest mortality of all female reproductive cancers. It has a rare predilection to develop brain metastases (BM). In this study, we evaluated the mutational profile of ovarian cancer metastases through Next-Generation Sequencing (NGS) with the aim of identifying potential clinically actionable genetic alterations with options for small molecule targeted therapy. Library preparation was conducted using Illumina TruSight Rapid Capture Kit in combination with a cancer specific enrichment kit covering 94 genes. BRCA-mutations were confirmed by using TruSeq Custom Amplicon Low Input Kit in combination with a custom-designed BRCA gene panel. In our cohort all eight sequenced BM samples exhibited a multitude of variant alterations, each with unique molecular profiles. The 37 identified variants were distributed over 22 cancer-related genes (23.4%). The number of mutated genes per sample ranged from 3 to 7 with a median of 4.5. The most commonly altered genes were BRCA1/2, TP53, and ATM. In total, 7 out of 8 samples revealed either a BRCA1 or a BRCA2 pathogenic mutation. Furthermore, all eight BM samples showed mutations in at least one DNA repair gene. Our NGS study of BM of ovarian carcinoma revealed a significant number of BRCA-mutations beside TP53, ATM and CHEK2 mutations. These findings strongly suggest the implication of BRCA and DNA repair malfunction in ovarian cancer metastasizing to the brain. Based on these findings, pharmacological PARP inhibition could be one potential targeted therapeutic for brain metastatic ovarian cancer patients.
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