Journal article
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
Human genetics
21 May 2022
PMID: 35596788
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well as a predisposition to malignancies including leukemia and squamous cell carcinoma (SCC). At least 22 genes are associated with Fanconi anemia, constituting the Fanconi anemia DNA repair pathway. This pathway coordinates multiple processes and proteins to facilitate the repair of DNA adducts including interstrand crosslinks (ICLs) that are generated by environmental carcinogens, chemotherapeutic crosslinkers, and metabolic products of alcohol. ICLs can interfere with DNA transactions, including replication and transcription. If not properly removed and repaired, ICLs cause DNA breaks and lead to genomic instability, a hallmark of cancer. In this review, we will discuss the genetic and phenotypic characteristics of Fanconi anemia, the epidemiology of the disease, and associated cancer risk. The sources of ICLs and the role of ICL-inducing chemotherapeutic agents will also be discussed. Finally, we will review the detailed mechanisms of ICL repair via the Fanconi anemia DNA repair pathway, highlighting critical regulatory processes. Together, the information in this review will underscore important contributions to Fanconi anemia research in the past two decades.
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Details
- Title
- Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
- Creators
- Jasmine D Peake - Drexel UniversityEishi Noguchi - Drexel University
- Publication Details
- Human genetics
- Publisher
- Springer Nature
- Grant note
- C1706 / W. W. Smith Charitable Trust C2007 / W. W. Smith Charitable Trust F31-AA027133 / NIAAA NIH HHS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Biochemistry and Molecular Biology
- Web of Science ID
- WOS:000798395900001
- Scopus ID
- 2-s2.0-85130227993
- Other Identifier
- 991019168058804721
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- Web of Science research areas
- Genetics & Heredity