ArticlePLoS genetics2018
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Clinical practice guidelines for duodenal cancer 2021.Journal of gastroenterology · 2022Guideline
- Signal transduction pathway mutations in gastrointestinal (GI) cancers: a systematic review and meta-analysis.Scientific reports · 2020Pooled it
- Spatial proteomics deciphers the immune niche landscape of non-ampullary duodenal adenocarcinoma.British journal of cancer · 2026Article
- Tumours of the duodenum and the ampulla of Vater: An overview of the key criteria for their classification, pathogenesis, and molecular assessment.Virchows Archiv : an international journal of pathology · 2026Review
- Real-World Data of Comprehensive Genomic Profiles and Clinicopathological Characteristics of Duodenal Epithelial Neoplasms.Cancers · 2026Article
- Recurrent COPA mutation drives R-spondin-independent Wnt activation in intestinal tumors.Nature genetics · 2026Article
- A case report and literature review of duodenal adenocarcinoma with complete loss of mismatch repair proteins.Frontiers in oncology · 2026Article
- Epithelial tension controls intestinal cell extrusion.Science (New York, N.Y.) · 2025Article
- Characterization of Mutational Signatures in Tumors from a Large Chinese Population.Cancer research communications · 2025Article
- BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature.Cancer reports (Hoboken, N.J.) · 2025Review
- Case Report: Metastatic small bowel adenocarcinoma with DNA mismatch repair deficiency in an organ transplant recipient treated with anti-PD-1 immunotherapy.Frontiers in oncology · 2025Article
- Tertiary lymphoid structures' pattern and prognostic value in primary adenocarcinoma of jejunum and ileum.World journal of surgical oncology · 2024Article
- Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases.British journal of cancer · 2024Article
- PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.Molecular cancer research : MCR · 2024Article
- Frequency of Common and UncommonCancers · 2024Article
- Article
- Targeted proteomics-determined multi-biomarker profiles developed classifier for prognosis and immunotherapy responses of advanced cervical cancer.Frontiers in immunology · 2024Article
- Driver and targetable alterations in Chinese patients with small bowel carcinoma.Journal of cancer research and clinical oncology · 2023Article
- Molecular genetic positioning of small intestine and papilla of Vater carcinomas including clinicopathological classification.Cancer medicine · 2023Article
- Molecular Landscape and Association With Crohn Disease of Poorly Cohesive Carcinomas of the Nonampullary Small Bowel.American journal of clinical pathology · 2023Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003-2011. Paired-end exome sequencing was performed using Illumina HiSeq 4000, and OncodriveFML was used to identify driver genes from the exome data. We also defined frequently affected cancer signalling pathways and performed the first extensive allelic imbalance (AI) analysis in SBA. Exome data analysis revealed significantly mutated genes previously linked to SBA (TP53, KRAS, APC, SMAD4, and BRAF), recently reported potential driver genes (SOX9, ATM, and ARID2), as well as novel candidate driver genes, such as ACVR2A, ACVR1B, BRCA2, and SMARCA4. We also identified clear mutation hotspot patterns in ERBB2 and BRAF. No BRAF V600E mutations were observed. Additionally, we present a comprehensive mutation signature analysis of SBA, highlighting established signatures 1A, 6, and 17, as well as U2 which is a previously unvalidated signature. Finally, comparison of the three small bowel segments revealed differences in tumor characteristics. This comprehensive work unveils the mutational landscape and most frequently affected genes and pathways in SBA, providing potential therapeutic targets, and novel and more thorough insights into the genetic background of this tumor type.
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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.