ArticleHuman mutation2016
Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 46 citations in OpenAlex.
- LINE-1 retrotransposons: Multifaceted functions and regulatory mechanisms in health and disease.Molecular therapy. Nucleic acids · 2026Review
- Atlas-Guided Nanocarrier Strategies Targeting Spatial NTRK2/MAPK Signaling in EGFR-TKI-Resistant Niches of Esophageal Squamous Cell Carcinoma.Pharmaceutics · 2026Review
- Transposable elements as instructors of the immune system.Nature reviews. Immunology · 2025Review
- Chromosomal rearrangements and instability caused by the LINE-1 retrotransposon.bioRxiv : the preprint server for biology · 2024Article
- METTL protein family: focusing on the occurrence, progression and treatment of cancer.Biomarker research · 2024Review
- Review
- Review
- The role of transposable elements in aging and cancer.Biogerontology · 2023Review
- Research progress of LINE-1 in the diagnosis, prognosis, and treatment of gynecologic tumors.Frontiers in oncology · 2023Review
- Differential expression of an endogenous retroviral element [HERV-K(HML-6)] is associated with reduced survival in glioblastoma patients.Scientific reports · 2022Article
- Review
- Mobile element insertions and associated structural variants in longitudinal breast cancer samples.Scientific reports · 2021Article
- Unraveling the features of somatic transposition in the Drosophila intestine.The EMBO journal · 2021Article
- Intercellular viral spread and intracellular transposition of Drosophila gypsy.PLoS genetics · 2021Article
- Striking heterogeneity of somatic L1 retrotransposition in single normal and cancerous gastrointestinal cells.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Human transposon insertion profiling by sequencing (TIPseq) to map LINE-1 insertions in single cells.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Cell fitness screens reveal a conflict between LINE-1 retrotransposition and DNA replication.Nature structural & molecular biology · 2020Article
- LINE-1 ORF2p expression is nearly imperceptible in human cancers.Mobile DNA · 2020Article
- Interaction of Estradiol and Endoplasmic Reticulum Stress in the Development of Esophageal Carcinoma.Frontiers in endocrinology · 2020Article
- Roles of Transposable Elements in the Different Layers of Gene Expression Regulation.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Squamous cell carcinoma of the esophagus (SCC) is the most common form of esophageal cancer in the world and is typically diagnosed at an advanced stage when successful treatment is challenging. Understanding the mutational profile of this cancer may identify new treatment strategies. Because somatic retrotransposition has been shown in tumors of the gastrointestinal system, we focused on LINE-1 (L1) mobilization as a source of genetic instability in this cancer. We hypothesized that retrotransposition is ongoing in SCC patients. The expression of L1 encoded proteins is necessary for retrotransposition to occur; therefore, we evaluated the expression of L1 open reading frame 1 protein (ORF1p). Using immunohistochemistry, we detected ORF1p expression in all four SCC cases evaluated. Using L1-seq, we identified and validated 74 somatic insertions in eight tumors of the nine evaluated. Of these, 12 insertions appeared to be somatic, not genetically inherited, and sub-clonal (i.e., present in less than one copy per genome equivalent) in the adjacent normal esophagus (NE), while clonal in the tumor. Our results indicate that L1 retrotransposition is active in SCC of the esophagus and that insertion events are present in histologically NE that expands clonally in the subsequent tumor.
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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.