ArticleJAMA2011
Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
Article in JAMA, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 126 citations in OpenAlex.
- ACG Clinical Guideline: Diagnosis and Management of Barrett's Esophagus.The American journal of gastroenterology · 2016Guideline
- CTHRC1 drives megakaryocyte-mediated immunotherapy resistance in esophageal squamous cell carcinoma via the integrin αIIbβ3/Rap1 pathway and is targetable by mRNA vaccination.Molecular cancer · 2026Article
- Esophageal cancer: from pathogenesis to precision therapies.Signal transduction and targeted therapy · 2026Review
- Fibroblast-associated CTHRC1 as a key indicator of recurrence risk in prostate cancer.World journal of surgical oncology · 2026Article
- cfGWAS reveal genetic basis of cell-free DNA end motifs.Nature communications · 2026Article
- Identification ofFrontiers in aging neuroscience · 2026Article
- Etiology and Pathophysiology of Barrett's Esophagus/Neoplasia.Digestion · 2026Review
- Pan-cancer analysis reveals ASCC family promotes the cancer progression of lung adenocarcinoma.Scientific reports · 2025Article
- Article
- Integrative multi-omics analysis and machine learning reveal the unique role of ASCC3 in combination with various immune-related genes in rectal adenocarcinoma.Frontiers in genetics · 2025Article
- Genetic evaluation of patients with multiple primary cancers.Oncology letters · 2025Article
- The role of collagen triple helix repeat containing 1 (CTHRC1) in cancer development and progression.Expert opinion on therapeutic targets · 2024Review
- Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.NPJ genomic medicine · 2024Article
- Disparities in esophageal cancer incidence and esophageal adenocarcinoma mortality in the United States over the last 25-40 years.World journal of gastrointestinal endoscopy · 2023Article
- The construction of a testis transcriptional cell atlas from embryo to adult reveals various somatic cells and their molecular roles.Journal of translational medicine · 2023Article
- Role of macrophage scavenger receptor 1 in the progression of dyslipidemia in acne vulgaris patients.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2023Article
- Improving outcomes in patients with oesophageal cancer.Nature reviews. Clinical oncology · 2023Review
- CTHRC1, a novel gene with multiple functions in physiology, disease and solid tumors (Review).Oncology letters · 2023Review
- Intratumor microbiome derived glycolysis-lactate signatures depicts immune heterogeneity in lung adenocarcinoma by integration of microbiomic, transcriptomic, proteomic and single-cell data.Frontiers in microbiology · 2023Article
- Safety and efficacy of liquid nitrogen spray cryotherapy in Barrett's neoplasia - a comprehensive review and meta-analysis.Endoscopy international open · 2022Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
contextBarrett esophagus (BE) occurs in 1% to 10% of the general population and is believed to be the precursor of esophageal adenocarcinoma (EAC). The incidence of EAC has increased 350% in the last 3 decades without clear etiology. Finding predisposition genes may improve premorbid risk assessment, genetic counseling, and management. Genome-wide multiplatform approaches may lead to the identification of genes important in BE/EAC development.
objectiveTo identify risk alleles or mutated genes associated with BE/EAC. DESIGN, SETTING, AND PATIENTS: Model-free linkage analyses of 21 concordant-affected sibling pairs with BE/EAC and 11 discordant sibling pairs (2005-2006). Significant germline genomic regions in independent prospectively accrued series of 176 white patients with BE/EAC and 200 ancestry-matched controls (2007-2010) were validated and fine mapped. Integrating data from these significant genomic regions with somatic gene expression data from 19 BE/EAC tissues yielded 12 "priority" candidate genes for mutation analysis (2010). Genes that showed mutations in cases but not in controls were further screened in an independent prospectively accrued validation series of 58 cases (2010).
main outcome measuresIdentification of germline mutations in genes associated with BE/EAC cases. Functional interrogation of the most commonly mutated gene.
resultsThree major genes, MSR1, ASCC1, and CTHRC1 were associated with BE/EAC (all P < .001). In addition, 13 patients (11.2%) with BE/EAC carried germline mutations in MSR1, ASCC1, or CTHRC1. MSR1 was the most frequently mutated, with 8 of 116 (proportion, 0.069; 95% confidence interval [CI], 0.030-0.130; P < .001) cases with c.877C>T (p.R293X). An independent validation series confirmed germline MSR1 mutations in 2 of 58 cases (proportion, 0.035; 95% CI, 0.004-0.120; P = .09). MSR1 mutation resulted in CCND1 up-regulation in peripheral-protein lysate. Immunohistochemistry of BE tissues in MSR1-mutation carriers showed increased nuclear expression of CCND1.
conclusionMSR1 was significantly associated with the presence of BE/EAC in derivation and validation samples, although it was only present in a small percentage of the cases.
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