A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
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Summary
It is proposed that single-stranded DNA generated in response to oncogene-induced replication stress compromises the repair of deaminated cytosines and other damaged bases, leading to the observed SNS mutator phenotype.
- Type
- article
- Published
- 2012-12-01
- Cited by
- 66
- References
- 57
- Access
- Open access
- OpenAlex
- https://openalex.org/W1969774086
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:830517
Keywords
Exome sequencing, Phenotype, Biology, Genetics, Genome instability
References
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- Methylation of protocadherin 10, a novel tumor suppressor, is associated with poor prognosis in patients with gastric cancer.
- The origin and evolution of mutations in Acute Myeloid Leukemia
- Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
- Common fragile sites, extremely large genes, neural development and cancer.
- CLONAL EVOLUTION IN CANCER
Cited by
- Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis
- Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
- Mechanisms underlying mutational signatures in human cancers
- Extrachromosomal driver mutations in glioblastoma and low grade glioma
- Transcriptional dynamics in colorectal carcinogenesis: new insights into the role of c-Myc and miR17 in benign to cancer transformation.
- The FHIT gene product: tumor suppressor and genome ‘caretaker’
- WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome
- The causes and consequences of genetic heterogeneity in cancer evolution
- Break-Induced Replication is a Source of Mutation Clusters Underlying Kataegis
- Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
- Therapeutic opportunities within the DNA damage response
- Break-induced replication repair of damaged forks induces genomic duplications in human cells
- SWI/SNF Chromatin Remodeling Enzymes in Melanocyte Differentiation and Melanoma
- The promise of whole-exome sequencing in medical genetics
- Colorectal Adenomas Contain Multiple Somatic Mutations That Do Not Coincide with Synchronous Adenocarcinoma Specimens
- Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
- The DNA damage checkpoint precedes activation of ARF in response to escalating oncogenic stress during tumorigenesis
- DNA replication stress as a hallmark of cancer.
- Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
- Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
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