ArticleNature communications2020
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
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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 43 papers.
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43 citing papers in PubMed, 64 citations in OpenAlex.
- Mapping Mutations and Signaling Network Interactions to Guide Precision Therapy in Gallbladder Cancer.Cancer reports (Hoboken, N.J.) · 2026Review
- KAT8-mediated epigenetic modifications: Physiological functions, heterogeneity in disease, and advances in targeted development.iScience · 2026Review
- Global patterns of mutational profiles in biliary tract cancer.Journal of hepatology · 2026Article
- Review
- Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis.EBioMedicine · 2026Article
- Actionable genomic landscape of biliary tract cancer in the Indian population.The oncologist · 2026Article
- Molecular insights into HER2/ERBB2 amplification and carcinogenesis in gallbladder cancer associated with pancreaticobiliary maljunction.Journal of gastroenterology · 2026Article
- Case Report: Response to ivosidenib in patients with cholangiocarcinoma: a clinical perspective with illustrative cases.Frontiers in oncology · 2026Article
- Multi-omic analysis of gallbladder cancer identifies distinct tumor microenvironments associated with disease progression.Nature genetics · 2025Article
- Bioprospecting potential genetic biomarkers of gallbladder cancer.Molecular biology reports · 2025Article
- Single-cell transcription reveals hepatocyte-to-cholangiocyte reprogramming and biliary gene profile in biliary atresia.Hepatology communications · 2025Article
- Potential Molecular Markers for Cholecystic Inflammation-Induced Carcinogenesis Based on RNA-Seq Gene Screening.Combinatorial chemistry & high throughput screening · 2025Article
- Super-Enhancer Reprograming Driven by SOX9 and TCF7L2 Represents Transcription-Targeted Therapeutic Vulnerability for Treating Gallbladder Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Proteomic profiling reveals CEACAM6 function in driving gallbladder cancer aggressiveness through integrin receptor, PRKCD and AKT/ERK signaling.Cell death & disease · 2024Article
- Clinical and Genomic Characterization ofJCO global oncology · 2024Article
- Hypomethylation-associated ELF3 helps nasopharyngeal carcinoma to escape immune surveillance via MUC16-mediated glycolytic metabolic reprogramming.American journal of physiology. Cell physiology · 2024Article
- CircRNome-wide characterisation reveals the promoting role of circAATF in anti-PD-L1 immunotherapy of gallbladder carcinoma.Clinical and translational medicine · 2024Article
- Article
- Recent Advances in Immunotherapy for Advanced Biliary Tract Cancer.Current treatment options in oncology · 2024Review
- Topological reorganization and functional alteration of distinct genomic components in gallbladder cancer.Frontiers of medicine · 2024Article
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Authors and funding
40 authors at 13 institutions in 5 countries.
Akhilesh Pandey *Institute of Bioinformatics, Bangalore, Karnataka, 560066, India. pandey.akhilesh@mayo.edu.ORCID http://orcid.org/0000-0001-9943-6127
Eric W Stawiski *Bioinformatics and Computational Biology Department, Genentech Inc, South San Francisco, CA, 94080, USA. eric.s@medgenome.com.
Steffen Durinck *Bioinformatics and Computational Biology Department, Genentech Inc, South San Francisco, CA, 94080, USA.
Harsha Gowda *Institute of Bioinformatics, Bangalore, Karnataka, 560066, India.
Leonard D GoldsteinBioinformatics and Computational Biology Department, Genentech Inc, South San Francisco, CA, 94080, USA.
Mustafa A BarbhuiyaInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.
Markus S SchröderMolecular Biology Department, Genentech Inc., South San Francisco, CA, 94080, USA.
Sreelakshmi K SreenivasamurthyInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.ORCID http://orcid.org/0000-0002-8891-3714
Sun-Whe KimDepartment of Surgery, Division of Hepatobiliary and Pancreatic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 08826, South Korea.
Sameer PhalkeResearch and Development Department, MedGenome Labs Pvt. Ltd., Bangalore, Karnataka, 560099, India.
Kushal SuryamohanResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Kayla LeeResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Papia ChakrabortyResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Vasumathi KodeResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Xiaoshan ShiResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Aditi ChatterjeeInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.ORCID http://orcid.org/0000-0001-8474-5824
Keshava DattaInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.
Aafaque A KhanInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.
Tejaswini SubbannayyaInstitute of Bioinformatics, Bangalore, Karnataka, 560066, India.
Jing WangResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Subhra ChaudhuriMolecular Biology Department, Genentech Inc., South San Francisco, CA, 94080, USA.
Sanjiv GuptaDepartment of Pathology, Cancer Hospital and Research Institute, Gwalior, Madhya Pradesh, 474009, India.
Braj Raj ShrivastavDepartment of Surgical Oncology, Cancer Hospital and Research Institute, Gwalior, Madhya Pradesh, 474009, India.
Bijay S JaiswalMolecular Biology Department, Genentech Inc., South San Francisco, CA, 94080, USA.
Satish S PoojaryJiwaji University, Gwalior, Madhya Pradesh, 474011, India.
Shushruta BhuniaJiwaji University, Gwalior, Madhya Pradesh, 474011, India.
Patricia GarciaDepartment of Pathology, Millennium Institute on Immunology and Immunotherapy, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Carolina BizamaDepartment of Pathology, Millennium Institute on Immunology and Immunotherapy, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Lorena RosaApplied Molecular and Cellular Biology PhD Program Universidad De la Frontera, Temuco, Chile.
Wooil KwonDepartment of Surgery, Division of Hepatobiliary and Pancreatic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 08826, South Korea.
Hongbeom KimDepartment of Surgery, Division of Hepatobiliary and Pancreatic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 08826, South Korea.ORCID http://orcid.org/0000-0002-1595-0135
Youngmin HanDepartment of Surgery, Division of Hepatobiliary and Pancreatic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 08826, South Korea.ORCID http://orcid.org/0000-0003-0456-7824
Thakur Deen YadavDepartment of Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Vedam L RamprasadResearch and Development Department, MedGenome Labs Pvt. Ltd., Bangalore, Karnataka, 560099, India.
Amitabha ChaudhuriResearch and Development Department, MedGenome Inc, Foster City, CA, 94404, USA.
Zora ModrusanMolecular Biology Department, Genentech Inc., South San Francisco, CA, 94080, USA.
Juan Carlos RoaDepartment of Pathology, Millennium Institute on Immunology and Immunotherapy, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Pramod Kumar TiwariJiwaji University, Gwalior, Madhya Pradesh, 474011, India.
Jin-Young JangDepartment of Surgery, Division of Hepatobiliary and Pancreatic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 08826, South Korea. jangjy4@snu.ac.kr.ORCID http://orcid.org/0000-0003-3312-0503
Somasekar SeshagiriMolecular Biology Department, Genentech Inc., South San Francisco, CA, 94080, USA. sekar@sgrf.org.ORCID http://orcid.org/0000-0003-4272-6443
Depomed (United States) · USInstitute of Bioinformatics · INSeoul National University Hospital · KRJiwaji University · INPontificia Universidad Católica de Chile · CLSciGenom Labs (India) · INCancer Hospital and Research Institute · INBechtel (United States) · USBiogen (United States) · USMayo Clinic · USPost Graduate Institute of Medical Education and Research · INQIMR Berghofer Medical Research Institute · AUUniversidad de La Frontera · CL
Funding
The Comprehensive Proteome Characterization Center at Johns Hopkins: High Precision Discovery and Confirmation of Genoproteomic TargetsU24CA210985 · NCI · JOHNS HOPKINS UNIVERSITY · PI CHAN, DANIEL WANYUI, ZHANG, HUI · 2016 to 2020
$5.3MPersonalized Therapy of Hormone Refractory Breast CancerR01CA184165 · NCI · MAYO CLINIC ROCHESTER · PI PANDEY, AKHILESH · 2015 to 2019
$1.8MNCI NIH HHS R01 CA184165NCI NIH HHS U24 CA210985
Abstract
Gallbladder cancer (GBC) is an aggressive gastrointestinal malignancy with no approved targeted therapy. Here, we analyze exomes (n = 160), transcriptomes (n = 115), and low pass whole genomes (n = 146) from 167 gallbladder cancers (GBCs) from patients in Korea, India and Chile. In addition, we also sequence samples from 39 GBC high-risk patients and detect evidence of early cancer-related genomic lesions. Among the several significantly mutated genes not previously linked to GBC are ETS domain genes ELF3 and EHF, CTNNB1, APC, NSD1, KAT8, STK11 and NFE2L2. A majority of ELF3 alterations are frame-shift mutations that result in several cancer-specific neoantigens that activate T-cells indicating that they are cancer vaccine candidates. In addition, we identify recurrent alterations in KEAP1/NFE2L2 and WNT pathway in GBC. Taken together, these define multiple targetable therapeutic interventions opportunities for GBC treatment and management.
Indexed as
Frameshift Mutationbeta CateninCancer VaccinesChileDNA-Binding ProteinsGallbladder NeoplasmsGene Expression ProfilingGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenomicsHumansIndiaKelch-Like ECH-Associated Protein 1NF-E2-Related Factor 2Proto-Oncogene Proteins c-etsRepublic of Koreabeta CateninCancer VaccinesDNA-Binding ProteinsELF3 protein, humanKEAP1 protein, humanKelch-Like ECH-Associated Protein 1NF-E2-Related Factor 2Proto-Oncogene Proteins c-etsTranscription Factors
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