DNA repair mechanisms protect our genome from carcinogenesis
Open accessAbstract
Human cells are constantly exposed to DNA damage. Without repair, damage can result in genetic instability and eventually cancer. The strong association between the lack of DNA damage repair, mutations and cancer is dramatically demonstrated by a number of cancer-prone human syndromes, such as xeroderma pigmentosum (XP), ataxia-telangiectasia (AT) and Fanconi anemia (FA). This review focuses on the historical discoveries related with these three diseases and describes their impact on the understanding of DNA repair mechanisms and the causes of human cancer. As deficiencies in DNA repair are also often related with progeria symptoms, unrepaired damage and aging are somehow related. Several other pathologies associated with DNA repair defects, genetic instability and increased cancer risk are also discussed. In fact, studies with cells from these many syndromes have helped in understanding important levels of protection against cancer and aging, although little help has actually been conferred to the patients in terms of therapy. Finally, the recent advances in combined basic and translational research on DNA repair and chemotherapy are presented.
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Evidence has shown that NER proteins are involved in repairing oxidatively generated damage.
“Evidence has shown that NER proteins are involved in repairing oxidatively generated damage [201,[209][210][211][212][213].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [201]
Defects in the roles of NER proteins in repair of oxidatively generated DNA damage may be the underlying mechanism behind accelerated aging and neurodegeneration in CS patients, increased risk for internal cancer in XPC, neurodegeneration in XPA, and complex phenotypes of XPB, XPD, and XPG patients.
“The defects in the roles of the NER proteins in the repair of oxidatively generated DNA damage may be the underlying mechanism behind the accelerated aging and neurodegeneration in CS patients, increased risk for internal cancer development in XPC and neurodegeneration in XPA patients, and the complex phenotypes of XPB, XPD, and XPG patients [201,212,217].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [201]
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Sunlight damage to cellular DNA: focus on oxidatively generated lesions
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“carcinoma, head and neck cancer, colorectal cancer, and leukemia [11, 12, 67-69].”
BackgroundInterleukin-6: Molecule in the Intersection of Cancer, Ageing and COVID-19
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RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex
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Evaluation of the Gamma-H2AX Assay for Radiation Biodosimetry in a Swine Model
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The DNA2 nuclease/helicase is an estrogen-dependent gene mutated in breast and ovarian cancers
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RAP80 Is Critical in Maintaining Genomic Stability and Suppressing Tumor Development
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NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways
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The contribution of XRCC3 genotypes to childhood acute lymphoblastic leukemia
PEI, J.-S., CHANG, W.-S., Hsu, P., Chen, C., Cheng, S.-P., WANG, Y.-C., Tsai, C.-W., Shen, T., & Bau, D. (2018) · Cancer Management and Research · doi:10.2147/cmar.s178411 · Cited by 21 · see citing works
Singlet molecular oxygen: Düsseldorf – São Paulo, the Brazilian connection
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Genetic predisposition and hematopoietic malignancies in children: Primary immunodeficiency
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The Potential of PARP Inhibitors in Neuro-Oncology
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DNA damage after chronic oxytocin administration in rats: a safety yellow light?
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- Authors
- Moraes, M. C. S.
- Affiliations
- Universidade de São Paulo (BR)
- Corresponding author
- Moraes, Maria Carolina Strano
- Venue
- Frontiers in Bioscience
- Publisher
- IMR Press
- Published
- 2012
- Volume
- 17
- Issue
- 1
- Pages
- 1362
- ISSN
- 1093-4715 (ISSN-L)
- 1093-9946
- DOI
- 10.2741/3992
- OpenAlex
- W1983225716
- Cited by
- 64
- References
- 211
- Citations by year
- 2026: 2 · 2024: 2 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 5 · 2019: 5 · 2018: 5 · 2017: 2 · 2016: 6 · 2015: 3 · 2014: 11 · 2013: 11 · 2012: 7
- FWCI
- 0.87
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Frontiers in bioscience (publishedVersion)
- PubMed (publishedVersion)
- Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
- Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- 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
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Keywords
- DNA repair, carcinogenesis, xeroderma pigmentosum, ataxia telangiectasia, Fanconi anemia, genomic instability, Hutchinson-Gilford progeria syndrome, aging, DNA damage, DNA repair deficiency, chemotherapy
- MeSH terms
- Cell Transformation, Neoplastic, DNA Repair, Humans, Genome
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