ArticleDNA repair2012
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.
Article in DNA repair, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- α-ketoglutarate/succinate ratio imbalance impairs thymine DNA glycosylase function and base excision repair process increasing susceptibility to pancreatic cancer.Cell death & disease · 2026Article
- Base Excision Repair: Mechanisms and Impact in Biology, Disease, and Medicine.International journal of molecular sciences · 2023Review
- DNA methylation regulator-based signature for predicting clear cell renal cell carcinoma prognosis.American journal of translational research · 2023Article
- The Role of Thymine DNA Glycosylase in Transcription, Active DNA Demethylation, and Cancer.Cancers · 2022Review
- TDG suppresses the migration and invasion of human colon cancer cells via the DNMT3A/TIMP2 axis.International journal of biological sciences · 2022Article
- Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.Scientific reports · 2021Article
- Active DNA demethylation-The epigenetic gatekeeper of development, immunity, and cancer.Advanced genetics (Hoboken, N.J.) · 2021Review
- Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.Annals of laboratory medicine · 2020Article
- Advances in Nutritional Epigenetics-A Fresh Perspective for an Old Idea. Lessons Learned, Limitations, and Future Directions.Epigenetics insights · 2020Article
- Defining the Role of Nucleotide Flipping in Enzyme Specificity UsingJournal of the American Chemical Society · 2019Article
- TDG Gene Polymorphisms and Their Possible Association with Colorectal Cancer: A Case Control Study.Journal of oncology · 2019Article
- Article
- The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes.Nucleic acids research · 2017Article
- How does inflammation drive mutagenesis in colorectal cancer?Trends in cancer research · 2017Article
- Multifaceted roles for thymine DNA glycosylase in embryonic development and human carcinogenesis.Acta biochimica et biophysica Sinica · 2016Review
- Identification of MicroRNAs as Breast Cancer Prognosis Markers through the Cancer Genome Atlas.PloS one · 2016Article
- Gut Microbiota Imbalance and Base Excision Repair Dynamics in Colon Cancer.Journal of Cancer · 2016Review
- Role of base excision repair in maintaining the genetic and epigenetic integrity of CpG sites.DNA repair · 2015Review
- Base excision repair of tandem modifications in a methylated CpG dinucleotide.The Journal of biological chemistry · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cells with DNA repair defects have increased genomic instability and are more likely to acquire secondary mutations that bring about cellular transformation. We describe the frequency and spectrum of somatic mutations involving several tumor suppressor genes in the rectal carcinoma of a 13-year-old girl harboring biallelic, germline mutations in the DNA mismatch repair gene PMS2. Apart from microsatellite instability, the tumor DNA contained a number of C:G→T:A or G:C→A:T transitions in CpG dinucleotides, which often result through spontaneous deamination of cytosine or 5-methylcytosine. Four DNA glycosylases, UNG2, SMUG1, MBD4 and TDG, are involved in the repair of these deamination events. We identified a heterozygous missense mutation in TDG, which was associated with TDG protein loss in the tumor. The CpGs mutated in this patient's tumor are generally methylated in normal colonic mucosa. Thus, it is highly likely that loss of TDG contributed to the supermutator phenotype and that most of the point mutations were caused by deamination of 5-methylcytosine to thymine, which remained uncorrected owing to the TDG deficiency. This case provides the first in vivo evidence of the key role of TDG in protecting the human genome against the deleterious effects of 5-methylcytosine deamination.
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Registered trials
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.