ArticleBritish journal of cancer2022
HOXD8 hypermethylation as a fully sensitive and specific biomarker for biliary tract cancer detectable in tissue and bile samples.
Article in British journal of cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.Molecular diagnosis & therapy · 2026Pooled it
- LINC01117 promotes the malignant proliferation of lung adenocarcinoma by increasing HOXD8 mRNA stability.Molecular medicine reports · 2026Article
- Molecular endoscopy with next-generation sequencing improves diagnosis of cholangiocarcinoma in patients with extrahepatic biliary strictures.JHEP reports : innovation in hepatology · 2026Article
- A guide for establishing patient-derived organoids from bile samples obtained during endoscopic procedures and performing gene expression knockdown.Frontiers in cell and developmental biology · 2026Article
- Detection of cancer epigenetic alterations in a pilot cohort of workers exposed to TiOFrontiers in toxicology · 2026Article
- DNA Methylation Analyses of Tissue Samples and Cell-Free DNA by Droplet Digital PCR.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Article
- Advanced Biliary Tract Cancer: Exploration of Third-Line and Other Therapeutic Areas After Failure of Chemotherapy Alone.Cancers · 2025Review
- Mutational Analysis of Bile Cell-Free DNA in Primary Sclerosing Cholangitis: A Pilot Study.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Mapping the landscape of biliary tract cancer in Europe: challenges and controversies.The Lancet regional health. Europe · 2025Review
- The Search for Risk, Diagnostic, and Prognostic Biomarkers of Cholangiocarcinoma and Their Biological and Clinicopathologic Significance.The American journal of pathology · 2025Review
- HOXD1 inhibits lung adenocarcinoma progression and is regulated by DNA methylation.Oncology reports · 2024Article
- Distinct longitudinal patterns of urine tumor DNA in patients undergoing surveillance for bladder cancer.Molecular oncology · 2024Observational
- Tissue of origin prediction for cancer of unknown primary using a targeted methylation sequencing panel.Clinical epigenetics · 2024Article
- Discovery of novel DNA methylation biomarker panels for the diagnosis and differentiation between common adenocarcinomas and their liver metastases.Scientific reports · 2024Article
- Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci.Human genetics · 2023Article
- Cholangiocarcinoma - novel biological insights and therapeutic strategies.Nature reviews. Clinical oncology · 2023Review
- DNA methylation alterations at RE1-silencing transcription factor binding sites and their flanking regions in cancer.Clinical epigenetics · 2023Article
- New molecular mechanisms in cholangiocarcinoma: signals triggering interleukin-6 production in tumor cells and KRAS co-opted epigenetic mediators driving metabolic reprogramming.Journal of experimental & clinical cancer research : CR · 2022Article
- DNA methylation alterations caused byFrontiers in cellular and infection microbiology · 2022Review
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiliary tract cancers (BTC) are rare but highly aggressive tumours with poor prognosis, usually detected at advanced stages. Herein, we aimed at identifying BTC-specific DNA methylation alterations.
methodsStudy design included statistical power and sample size estimation. A genome-wide methylation study of an explorative cohort (50 BTC and ten matched non-tumoral tissue samples) has been performed. BTC-specific altered CpG islands were validated in over 180 samples (174 BTCs and 13 non-tumoral controls). The final biomarkers, selected by a machine-learning approach, were validated in independent tissue (18 BTCs, 14 matched non-tumoral samples) and bile (24 BTCs, five non-tumoral samples) replication series, using droplet digital PCR.
resultsWe identified and successfully validated BTC-specific DNA methylation alterations in over 200 BTC samples. The two-biomarker panel, selected by an in-house algorithm, showed an AUC > 0.97. The best-performing biomarker (chr2:176993479-176995557), associated with HOXD8, a pivotal gene in cancer-related pathways, achieved 100% sensitivity and specificity in a new series of tissue and bile samples.
conclusionsWe identified a novel fully efficient BTC biomarker, associated with HOXD8 gene, detectable both in tissue and bile by a standardised assay ready-to-use in clinical trials also including samples from non-invasive matrices.
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