ArticleBMC medical genetics2013
Mutation spectrum in human colorectal cancers and potential functional relevance.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Proteomic Analysis of Potential Targets for Non-Response to Infliximab in Patients With Ulcerative Colitis.Frontiers in pharmacology · 2022Article
- Article
- Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma.Frontiers in genetics · 2019Article
- Abnormal DNA methylation as a cell-free circulating DNA biomarker for colorectal cancer detection: A review of literature.World journal of gastrointestinal oncology · 2017Review
- Lentivirus-mediated knockdown of eukaryotic translation initiation factor 3 subunit D inhibits proliferation of HCT116 colon cancer cells.Bioscience reports · 2014Article
- The mutational landscape of Hodgkin lymphoma cell lines determined by whole-exome sequencing.Leukemia · 2014Article
- Use of blood-based biomarkers for early diagnosis and surveillance of colorectal cancer.World journal of gastrointestinal oncology · 2014Review
- Clinical applications of next-generation sequencing in colorectal cancers.World journal of gastroenterology · 2013Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSomatic variants, which occur in the genome of all cells, are well accepted to play a critical role in cancer development, as their accumulation in genes could affect cell proliferations and cell cycle.
methodsIn order to understand the role of somatic mutations in human colorectal cancers, we characterized the mutation spectrum in two colorectal tumor tissues and their matched normal tissues, by analyzing deep-sequenced transcriptome data.
resultsWe found a higher mutation rate of somatic variants in tumor tissues in comparison with normal tissues, but no trend was observed for mutation properties. By applying a series of stringent filters, we identified 418 genes with tumor specific disruptive somatic variants. Of these genes, three genes in mucin protein family (MUC2, MUC4, and MU12) are of particular interests. It has been reported that the expression of mucin proteins was correlated with the progression of colorectal cancer therefore somatic variants within those genes can interrupt their normal expression and thus contribute to the tumorigenesis.
conclusionsOur findings provide evidence of the utility of RNA-Seq in mutation screening in cancer studies, and suggest a list of candidate genes for future colorectal cancer diagnosis and treatment.
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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.