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Base excision repair and cancer
Open accessAbstract
Base excision repair is the system used from bacteria to man to remove the tens of thousands of endogenous DNA damages produced daily in each human cell. Base excision repair is required for normal mammalian development and defects have been associated with neurological disorders and cancer. In this paper we provide an overview of short patch base excision repair in humans and summarize current knowledge of defects in base excision repair in mouse models and functional studies on short patch base excision repair germ line polymorphisms and their relationship to cancer. The biallelic germ line mutations that result in MUTYH-associated colon cancer are also discussed.
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“Defective DNA repair and DDR pathways may lead to several human diseases, such as cancer and neurodegenerative diseases [6, 33–38]”
From Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress (2014) · cites this paper as [33]
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“Dysfunctions in these pathways are linked to cancer and neurodegenerative diseases [6, 33–38]”
From Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress (2014) · cites this paper as [33]
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Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis
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Self-citationThe Base Excision Repair Pathway in the Nematode Caenorhabditis elegans
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Metadata
- Authors
- Wallace, S. S., Murphy, D. L., & Sweasy, J. B.
- Affiliations
- University of Vermont (US)
- Yale University (US)
- Corresponding author
- Wallace, Susan S.
- Venue
- Cancer Letters
- Publisher
- Elsevier BV
- Published
- 2012-12
- Volume
- 327
- Issue
- 1-2
- Pages
- 73-89
- ISSN
- 0304-3835 (ISSN-L)
- PMC
- PMC3361536
- OpenAlex
- W1985323804
- Cited by
- 329
- References
- 357
- Citations by year
- 2026: 17 · 2025: 21 · 2024: 17 · 2023: 32 · 2022: 34 · 2021: 34 · 2020: 26 · 2019: 27 · 2018: 26 · 2017: 15 · 2016: 23 · 2015: 14 · 2014: 25 · 2013: 16 · 2012: 2
- FWCI
- 1.66
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Cancer Letters (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Cancer Institute (P01CA098993, R01CA080830, R01 CA33657, P01CA129186, R01CA033657)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Carcinogens and Genotoxicity Assessment
- Keywords
- base excision repair, short-patch repair, DNA repair deficiency, cancer susceptibility, MUTYH, biallelic variants, mouse model, endogenous DNA damage, neurological disorders
- MeSH terms
- Animals, Cell Transformation, Neoplastic, DNA Damage, DNA Repair, Humans, Neoplasms, Phenotype, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, DNA Repair Enzymes
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