The Fanconi anaemia/BRCA pathway
Abstract
Fanconi anaemia (FA) is a rare genetic cancer-susceptibility syndrome that is characterized by congenital abnormalities, bone-marrow failure and cellular sensitivity to DNA crosslinking agents. Seven FA-associated genes have recently been cloned, and their products were found to interact with well-known DNA-damage-response proteins, including BRCA1, ATM and NBS1. The FA proteins could therefore be involved in the cell-cycle checkpoint and DNA-repair pathways. Recent studies implicate the FA proteins in the process of repairing chromosome defects that occur during homologous recombination, and disruption of the FA genes results in chromosome instability--a common feature of many human cancers.
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Fanconi anemia patient cells are extremely sensitive to agents that induce DNA interstrand crosslinks.
“FA is a rare cancer-prone disease in which patients’ cells are characterized by extreme sensitivity to agents that induce DNA interstrand crosslinks (for review, see [22,23]).”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [22]
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- Authors
- D'Andrea, A. D., & Grompe, M.
- Affiliations
- Oregon Health & Science University (US)
- ORCID
- Grompe, Markus
- Venue
- Nature Reviews Cancer
- Published
- 2003-01
- Volume
- 3
- Issue
- 1
- Pages
- 23-34
- ISSN
- 1474-175X (ISSN-L)
- 1474-1768
- OpenAlex
- W2092950132
- Cited by
- 822
- References
- 122
- Citations by year
- 2026: 3 · 2025: 14 · 2024: 18 · 2023: 15 · 2022: 12 · 2021: 21 · 2020: 15 · 2019: 16 · 2018: 23 · 2017: 26 · 2016: 43 · 2015: 30 · 2014: 37 · 2013: 26 · 2012: 32
- FWCI
- 6.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature reviews. Cancer (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- Fanconi anemia, BRCA1, DNA damage response, DNA repair, cell cycle checkpoints, ATM, NBS1, chromosomal instability, homologous recombination, bone marrow failure, cancer susceptibility genes
- MeSH terms
- Animals, Disease Models, Animal, DNA Repair, DNA-Binding Proteins, Fanconi Anemia, Genetic Complementation Test, Humans, Proteins, Signal Transduction, BRCA1 Protein, Chromosome Breakage, Mice, Fanconi Anemia Complementation Group A Protein
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