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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Defects in DNA repair and DNA damage response pathways can lead to human diseases such as cancer and neurodegenerative diseases.
“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]
Defects in DNA repair and DDR pathways are associated with cancer and neurodegenerative diseases.
“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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Single nucleotide polymorphisms in DNA glycosylases: From function to disease
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Galick, H. A., Marsden, C. G., Kathe, S. D., Dragon, J. A., Volk, L. B., Nemec, A. A., Wallace, S. S., Prakash, A., Doublié, S., & Sweasy, J. B. (2017) · Oncotarget · doi:10.18632/oncotarget.20716 · Cited by 28 · see citing works
Self-citationTargeting the DNA damage response in cancer
Guffanti, F., Chiappa, M., & Damia, G. L. M. (2024) · MedComm · doi:10.1002/mco2.788 · Cited by 28 · see citing works
Banerjee, D. R., Deckard, C. E., Zeng, Y., & Sczepanski, J. T. (2019) · Scientific Reports · doi:10.1038/s41598-019-52340-0 · Cited by 27 · see citing works
Malfatti, M. C., Antoniali, G., Codrich, M., Burra, S., Mangiapane, G., Dalla, E., & Tell, G. (2019) · Mutagenesis · doi:10.1093/mutage/gez051 · Cited by 26 · see citing works
Targeting the DNA Damage Response Machinery for Lung Cancer Treatment
Venugopala, K. N. (2022) · Pharmaceuticals · doi:10.3390/ph15121475 · Cited by 27 · see citing works
Jirásková, K., Hughes, D. J., Brezina, S., Gumpenberger, T., Veškrňová, V., Büchler, T., Schneiderová, M., Levý, M., Liška, V., Vodenková, S., et al. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms20010097 · Cited by 26 · see citing works
Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis
Carroll, B. L., Zahn, K. E., Hanley, J. P., Wallace, S. S., Dragon, J. A., & Doublié, S. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab1162 · Cited by 26 · see citing works
Self-citationThe Base Excision Repair Pathway in the Nematode Caenorhabditis elegans
Elsakrmy, N., Zhang-Akiyama, Q.-M., & Ramotar, D. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.598860 · Cited by 25 · see citing works
Lenz, S. A. P., Kellie, J. L., & Wetmore, S. D. (2015) · The Journal of Physical Chemistry B · doi:10.1021/acs.jpcb.5b10337 · Cited by 24 · see citing works
Montaldi, A. P., de Lima, S. C. G., Godoy, P. R. D. V., Xavier, D. P., & Sakamoto‐Hojo, E. T. (2020) · Oncology Reports · doi:10.3892/or.2020.7756 · Cited by 24 · see citing works
Targeting Replication Stress Response Pathways to Enhance Genotoxic Chemo- and Radiotherapy
Nickoloff, J. A. (2022) · Molecules · doi:10.3390/molecules27154736 · Cited by 24 · see citing works
Research progress on the role and mechanism of DNA damage repair in germ cell development
Wang, Y., Su, M., Chen, Y.-J., Huang, X., Ruan, L.-G., Lv, Q.-Z., & Li, L. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1234280 · Cited by 19 · see citing works
Gene-gene interactions in gastrointestinal cancer susceptibility
Kim, J., Yum, S., Kang, C., & Kang, S. (2016) · Oncotarget · doi:10.18632/oncotarget.11701 · Cited by 24 · see citing works
Regulation of DNA repair by non-coding miRNAs
Natarajan, V. (2016) · Non-coding RNA Research · doi:10.1016/j.ncrna.2016.10.002 · Cited by 24 · see citing works
Sharma, N., Chakravarthy, S., Longley, M. J., Copeland, W. C., & Prakash, A. (2018) · DNA repair · doi:10.1016/j.dnarep.2018.02.012 · Cited by 24 · see citing works
- 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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