ArticleOncotarget2017
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- Review
- The CCR4-NOT complex: a multifaceted sensor of molecular signals instructing eukaryotic mRNA translation and stability.Nucleic acids research · 2025Review
- Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.Cancer research communications · 2025Article
- Article
- A GNAS Gene Mutation's Independent Expression in the Growth of Colorectal Cancer: A Systematic Review and Meta-Analysis.Cancers · 2022Review
- Somatic Mutations in Exon 7 of theCancers · 2022Article
- The Effect of Gene Mutations on Metastasis and Overall Survival in Metastatic and Nonmetastatic Colon Cancers.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Review
- Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact.Cancers · 2021Review
- Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.PloS one · 2021Article
- An Apoptosis-Related Gene Prognostic Index for Colon Cancer.Frontiers in cell and developmental biology · 2021Article
- Genetic Alterations of Metastatic Colorectal Cancer.Biomedicines · 2020Review
- An LCM-based genomic analysis of SPEM, Gastric Cancer and Pyloric Gland Adenoma in an Asian cohort.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Genetic alterations related to endoscopic treatment of colorectal tumors.JGH open : an open access journal of gastroenterology and hepatology · 2020Article
- New Insights Into the Complex Mutational Landscape of Sézary Syndrome.Frontiers in oncology · 2020Article
- Effect of GNAQ alteration on RANKL-induced osteoclastogenesis in human non-small-cell lung cancer.Bone & joint research · 2020Article
- Mutation Profiling of Premalignant Colorectal Neoplasia.Gastroenterology research and practice · 2019Article
- Colorectal cancer: genetic abnormalities, tumor progression, tumor heterogeneity, clonal evolution and tumor-initiating cells.Medical sciences (Basel, Switzerland) · 2018Review
- [The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions].Der Pathologe · 2018Review
- Does MutatedCancer prevention research (Philadelphia, Pa.) · 2018Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although gene-to-gene analyses identified genetic alterations such as APC, KRAS and TP53 mutations in colon adenomas, it is largely unknown whether there are any others in them. Mutational profiling of high-grade colon adenoma (HGCA) that just precedes colon carcinoma might identify not only novel adenoma-specific genes but also critical genes for its progression to carcinoma. For this, we performed whole-exome sequencing (WES) of 12 HGCAs and identified 11 non-hypermutated and one hypermutated (POLE-mutated) cases. We identified 22 genes including APC, KRAS, TP53, GNAS, NRAS, SMAD4, ARID2, and PIK3CA with non-silent mutations in the cancer Census Genes. Bi-allelic and mono-allelic APC alterations were found in nine and one HGCAs, respectively, while the other two harbored wild-type APC. Five HGCAs harbored either mono-allelic (four HGCAs) or bi-allelic (one HGCA) SMAD4 mutation or 18q loss that had been known as early carcinoma-specific changes. We identified MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations for the first time in colon adenomas. Our WES data is largely matched with the earlier 'adenoma-carcinoma model' (APC, KRAS, NRAS and GNAS mutations), but there are newly identified SMAD4, MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations in this study. Our findings provide resource for understanding colon premalignant lesions and for identifying genomic clues for differential diagnosis and therapy options for colon adenomas and carcinomas.
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