ArticleScientific reports2020
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- PD-L1 Expression in Biliary Tract Cancer: Comparison Across Antibody Clones and Role as a Predictor of Response to Chemoimmunotherapy: A Meta-Analysis.JCO precision oncology · 2025Pooled it
- Pooled it
- A Phase II Multicenter Trial of Rucaparib and Nivolumab as Maintenance Therapy in Patients with Advanced Biliary Tract Cancer: BilT-02.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
- KLF16 promotes immune escape in hepatocellular carcinoma cells by upregulating PD-L1 expression via PRKDC.Translational oncology · 2026Article
- Prognostic, Predictive, and Clinical Relevance of DNA Damage Repair Alterations in Biliary Tract Cancers.Cancers · 2026Review
- Article
- Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis.EBioMedicine · 2026Article
- Article
- Radiological signature of HER2-Positive gallbladder cancer: analysis of CT features.Abdominal radiology (New York) · 2026Article
- LAMC2 promotes gallbladder carcinoma metastasis through the TGF-β pathway.Cancer cell international · 2025Article
- Generation of a Biliary Tract Cancer Cell Line Atlas Identifies Molecular Subtypes and Therapeutic Targets.Cancer discovery · 2025Article
- Bioprospecting potential genetic biomarkers of gallbladder cancer.Molecular biology reports · 2025Article
- What eliminates the chance for cure: a multi-center evaluation on 10-year follow-up of gallbladder cancer after surgical resection.Annals of medicine · 2024Article
- Diagnostics and Therapy for Malignant Tumors.Biomedicines · 2024Review
- Clinical and Genomic Characterization ofJCO global oncology · 2024Article
- Recent Advances in Immunotherapy for Advanced Biliary Tract Cancer.Current treatment options in oncology · 2024Review
- Review
- Editorial: Role of imaging in biliary tract cancer: diagnosis, staging, response prediction and image-guided therapeutics.Frontiers in oncology · 2024Article
- Hsa_circ_0136666 stimulates gastric cancer progression and tumor immune escape by regulating the miR-375/PRKDC Axis and PD-L1 phosphorylation.Molecular cancer · 2023Article
- Immunotherapy and Targeted Therapy for Advanced Biliary Tract Cancer: Adding New Flavors to the Pizza.Cancers · 2023Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA repair gene aberrations (GAs) occur in several cancers, may be prognostic and are actionable. We investigated the frequency of DNA repair GAs in gallbladder cancer (GBC), association with tumor mutational burden (TMB), microsatellite instability (MSI), programmed cell death protein 1 (PD-1), and its ligand (PD-L1) expression. Comprehensive genomic profiling (CGP) of 760 GBC was performed. We investigated GAs in 19 DNA repair genes including direct DNA repair genes (ATM, ATR, BRCA1, BRCA2, FANCA, FANCD2, MLH1, MSH2, MSH6, PALB2, POLD1, POLE, PRKDC, and RAD50) and caretaker genes (BAP1, CDK12, MLL3, TP53, and BLM) and classified patients into 3 groups based on TMB level: low (< 5.5 mutations/Mb), intermediate (5.5-19.5 mutations/Mb), and high (≥ 19.5 mutations/Mb). We assessed MSI status and PD-1 & PD-L1 expression. 658 (86.6%) had at least 1 actionable GA. Direct DNA repair gene GAs were identified in 109 patients (14.2%), while 476 (62.6%) had GAs in caretaker genes. Both direct and caretaker DNA repair GAs were significantly associated with high TMB (P = 0.0005 and 0.0001, respectively). Tumor PD-L1 expression was positive in 119 (15.6%), with 17 (2.2%) being moderate or high. DNA repair GAs are relatively frequent in GBC and associated with coexisting actionable mutations and a high TMB.
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