ArticleInvestigative ophthalmology & visual science2017
Whole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma.
Article in Investigative ophthalmology & visual science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
16 citing papers in PubMed, 29 citations in OpenAlex.
- Treatment strategies and prognostic insights for lacrimal gland adenoid cystic carcinoma: a review.Discover oncology · 2025Review
- Advances in treatment of adenoid cystic carcinoma of the lacrimal gland.International journal of ophthalmology · 2025Review
- Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.Investigative ophthalmology & visual science · 2024Article
- Neoadjuvant Intra-arterial Cytoreductive Chemotherapy Improves Outcomes in Lacrimal Gland Adenoid Cystic Carcinoma.The oncologist · 2024Article
- A Review of the Molecular Landscape of Adenoid Cystic Carcinoma of the Lacrimal Gland.International journal of molecular sciences · 2023Review
- The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit.Ocular oncology and pathology · 2023Article
- Spatial Transcriptomics Identifies Expression Signatures Specific to Lacrimal Gland Adenoid Cystic Carcinoma Cells.Cancers · 2023Article
- Bevacizumab is an Efficient Therapeutic Approach with Low Side Effects in Patient-Derived Xenografts of Adenoid Cystic Carcinoma of the Lacrimal Gland.Cancer management and research · 2022Article
- The emerging role of ISWI chromatin remodeling complexes in cancer.Journal of experimental & clinical cancer research : CR · 2021Review
- Clinically Integrated Molecular Diagnostics in Adenoid Cystic Carcinoma.The oncologist · 2019Article
- Fibroblast growth factor receptor 1 (FGFR1) as a therapeutic target in adenoid cystic carcinoma of the lacrimal gland.Oncotarget · 2019Article
- Adenoid cystic carcinoma of the vagina: A case report.Medicine · 2019Article
- Successful Treatment of Erlotinib on Metastatic Adenoid Cystic Carcinoma of the Lacrimal Gland.Chinese medical journal · 2018Article
- PD-L1 and PD-L2 Expression Levels Are Low in Primary and Secondary Adenoid Cystic Carcinomas of the Orbit: Therapeutic Implications.Ophthalmic plastic and reconstructive surgeryArticle
- Adenoid Cystic Carcinoma of the Lacrimal Gland.Journal of current ophthalmologyReview
- Genome Sequencing and Apoptotic Markers to Assess Treatment Response of Lacrimal Gland Adenoid Cystic Carcinoma to Intra-Arterial Cytoreductive Chemotherapy.Ophthalmic plastic and reconstructive surgeryArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Purpose: To identify genomic mutations in lacrimal gland adenoid cystic carcinoma (LGACC) samples from patients. Methods: Genomic DNA was extracted from LGACC specimens. Whole exome sequencing (exome-seq) was conducted to screen for mutations. Capillary sequencing was performed to verify mutations in genes shared by multiple samples. Luciferase assays were used to evaluate functional consequences of NOTCH1 mutations. Results: The mutation profile of LGACC was complicated. The most frequently mutated gene observed (28.6%) was bromodomain PHD finger transcription factor (BPTF). No mutation was identified in common cancer genes such as TP53, KRAS, and BRAF. However, mutations predicted to be functionally severe were accumulated in the Notch signaling pathway including NOTCH1 and NOTCH2, of which mutations have been reported in head/neck adenoid cystic carcinoma (ACC). Of 14 LGACC samples, five samples carry mutations in Notch pathway genes. Capillary sequencing verified all the mutations in the two NOTCH genes identified by exome-seq. Compared to the wild-type NOTCH1, three frame shifting mutations and two missense mutations (C387W and L1600Q) increased luciferase activity approximately 10- to 25-fold. Conclusions: Major genomic mutation profiles in LGACC were uncovered by exome-seq. Although preliminary in nature, the Notch pathway could be a potential therapeutic target for LGACC.
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Registered trials
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.