Cited by 64DNA Repair MechanismsGenetic factors in colorectal cancerCancer-related Molecular Pathways

DNA repair mechanisms protect our genome from carcinogenesis

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Moraes, Maria Carolina Strano·2012·Frontiers in Bioscience

Abstract

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].”
  • 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].”

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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
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
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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