ArticleNature communications2020
Non-coding somatic mutations converge on the PAX8 pathway in ovarian cancer.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.Cell reports. Medicine · 2022Pooled it
- A Distal Super-Enhancer Regulates CD47 Expression and Promotes Macrophage-Mediated Phagocytosis of Ovarian Cancer Cells.bioRxiv : the preprint server for biology · 2026Article
- Catechin-Folate nano-niosomes from Osbeckia parvifolia Arn. induce apoptotic cell death in Ovarian cancer.Scientific reports · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Topoisomerase IIb binding delineates localized mutational processes and driver mutations in cancer genomes.Nature communications · 2025Article
- Integrative multi-omic analysis reveals a PAX8-driven gene network linking tumor stemness to therapy response in ovarian cancer.NAR genomics and bioinformatics · 2025Article
- Research Progress on the Functional Regulation Mechanisms of ZKSCAN3.Biomolecules · 2025Review
- Zinc Finger Protein-Based Prognostic Signature Predicts Survival in Lung Adenocarcinoma.Cancers · 2025Article
- From Cell Lines to Patients: Dissecting the Proteomic Landscape of Exosomes in Breast Cancer.Diagnostics (Basel, Switzerland) · 2025Article
- Enhancer regulatory networks globally connect non-coding breast cancer loci to cancer genes.Genome biology · 2025Article
- Targeting PAX8 sensitizes ovarian cancer cells to ferroptosis by inhibiting glutathione synthesis.Apoptosis : an international journal on programmed cell death · 2024Article
- Paired box proteins as diagnostic biomarkers for endocervical adenocarcinoma.World journal of clinical cases · 2024Article
- Implications of noncoding regulatory functions in the development of insulinomas.Cell genomics · 2024Article
- Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.American journal of human genetics · 2024Article
- Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing.NPJ systems biology and applications · 2024Article
- Leveraging Tissue-Specific Enhancer-Target Gene Regulatory Networks Identifies Enhancer Somatic Mutations That Functionally Impact Lung Cancer.Cancer research · 2024Article
- Tumour mutations in long noncoding RNAs enhance cell fitness.Nature communications · 2023Article
- CenhANCER: a comprehensive cancer enhancer database for primary tissues and cell lines.Database : the journal of biological databases and curation · 2023Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
The functional consequences of somatic non-coding mutations in ovarian cancer (OC) are unknown. To identify regulatory elements (RE) and genes perturbed by acquired non-coding variants, here we establish epigenomic and transcriptomic landscapes of primary OCs using H3K27ac ChIP-seq and RNA-seq, and then integrate these with whole genome sequencing data from 232 OCs. We identify 25 frequently mutated regulatory elements, including an enhancer at 6p22.1 which associates with differential expression of ZSCAN16 (P = 6.6 × 10-4) and ZSCAN12 (P = 0.02). CRISPR/Cas9 knockout of this enhancer induces downregulation of both genes. Globally, there is an enrichment of single nucleotide variants in active binding sites for TEAD4 (P = 6 × 10-11) and its binding partner PAX8 (P = 2×10-10), a known lineage-specific transcription factor in OC. In addition, the collection of cis REs associated with PAX8 comprise the most frequently mutated set of enhancers in OC (P = 0.003). These data indicate that non-coding somatic mutations disrupt the PAX8 transcriptional network during OC development.
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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.