Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (649 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Congenital disorder affecting all bone marrow elements, resulting in anemia; leukopenia; and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous chromosome breakage is a feature of this disease along with predisposition to leukemia. There are at least 7 complementation groups in Fanconi anemia: fanca, fancb, fancc, fancd1, fancd2, fance, fancf, fancg, and fancl. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Anemias, Fanconi; Fanconi Anemias; Anemia, Fanconi; Fanconi's Anemia; Anemia, Fanconi's; Fanconi Hypoplastic Anemia; Fanconi Pancytopenia; Fanconi Panmyelopathy.
Where it fits in the MeSH classification
- Broader topics
- Anemia, Hypoplastic, Congenital; DNA Repair-Deficiency Disorders
Related concepts
- Anemia
- Leukopenia
- Thrombopenia
- Chromosome Breakage
- Leukemia
- Fanca
- Fancb
- Fancc
- Fancd1
- Fancd2
Research landscape
PubMed indexes 3,739 records tagged with the MeSH heading “Fanconi Anemia” (counts retrieved 2026-10-29). 555 of them (14.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 1,283 records.
Reviews account for 601 records (16.1%) and meta-analyses for 2. Randomized controlled trials number 3 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 1,283 |
| 2000-2009 | 891 |
| 2010-2019 | 1,010 |
| 2020 onward | 555 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 601 | 16.1% |
| Meta-analyses | 2 | 0.1% |
| Randomized controlled trials | 3 | 0.1% |
Method: PubMed query "Fanconi Anemia"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Update of the human and mouse Fanconi anemia genes | 2015 | Review article Design not recorded in structured metadata | 115 | cc by PMID 26596371 · DOI · PMC4657327 |
| Endogenous formaldehyde scavenges cellular glutathione resulting in redox disruption and cytotoxicity | 2022 | Research article Design not recorded in structured metadata | 90 | cc by PMID 35136057 · DOI · PMC8827065 |
| The FANCD2-FANCI complex is recruited to DNA interstrand crosslinks before monoubiquitination of FANCD2 | 2016 | Research article Design not recorded in structured metadata | 68 | cc by PMID 27405460 · DOI · PMC4947157 |
| Patient-derived xenograft models of Fanconi anemia-associated head and neck cancer identify personalized therapeutic strategies | 2026 | Research article Design not recorded in structured metadata | 4 | cc by PMID 41401087 · DOI · PMC12904715 |
Update of the human and mouse Fanconi anemia genes [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies.
- Closing excerpt
- This is an example of a set of genes--known to exist in vertebrates, invertebrates, plants, and yeast--that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC).
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (195 words)
Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol "FANC." Fanconi anemia subtype (FANC) proteins function in a common DNA repair pathway called "the FA pathway," which is essential for maintaining genomic integrity. The various FANC mutant proteins contribute to distinct steps associated with FA pathogenesis. Herein, we provide a review update of the 19 human FANC and their mouse orthologs, an evolutionary perspective on the FANC genes, and the functional significance of the FA DNA repair pathway in association with clinical disorders. This is an example of a set of genes--known to exist in vertebrates, invertebrates, plants, and yeast--that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC).
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 26596371 · DOI · PMC4657327
Endogenous formaldehyde scavenges cellular glutathione resulting in redox disruption and cytotoxicity [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Formaldehyde (FA) is a ubiquitous endogenous and environmental metabolite that is thought to exert cytotoxicity through DNA and DNA-protein crosslinking, likely contributing to the onset of the human DNA repair condition Fanconi Anaemia.
- Closing excerpt
- These findings might be relevant for patients carrying mutations in FA-detoxification systems and could suggest therapeutic benefits from thiol-rich antioxidants like N-acetyl-L-cysteine.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (168 words)
Formaldehyde (FA) is a ubiquitous endogenous and environmental metabolite that is thought to exert cytotoxicity through DNA and DNA-protein crosslinking, likely contributing to the onset of the human DNA repair condition Fanconi Anaemia. Mutations in the genes coding for FA detoxifying enzymes underlie a human inherited bone marrow failure syndrome (IBMFS), even in the presence of functional DNA repair, raising the question of whether FA causes relevant cellular damage beyond genotoxicity. Here, we report that FA triggers cellular redox imbalance in human cells and in Caenorhabditis elegans. Mechanistically, FA reacts with the redox-active thiol group of glutathione (GSH), altering the GSH:GSSG ratio and causing oxidative stress. FA cytotoxicity is prevented by the enzyme alcohol dehydrogenase 5 (ADH5/GSNOR), which metabolizes FA-GSH products, lastly yielding reduced GSH. Furthermore, we show that GSH synthesis protects human cells from FA, indicating an active role of GSH in preventing FA toxicity. These findings might be relevant for patients carrying mutations in FA-detoxification systems and could suggest therapeutic benefits from thiol-rich antioxidants like N-acetyl-L-cysteine.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 35136057 · DOI · PMC8827065
The FANCD2-FANCI complex is recruited to DNA interstrand crosslinks before monoubiquitination of FANCD2 [3]
Abstract reading summary — source excerpts
- Opening excerpt
- The Fanconi anaemia (FA) pathway is important for the repair of DNA interstrand crosslinks (ICL).
- Closing excerpt
- Taken together, our results uncover the mechanism of how the FANCD2-FANCI complex activates the FA pathway, and explains the underlying molecular defect in FA patients with mutations in the Tower domain.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (149 words)
The Fanconi anaemia (FA) pathway is important for the repair of DNA interstrand crosslinks (ICL). The FANCD2-FANCI complex is central to the pathway, and localizes to ICLs dependent on its monoubiquitination. It has remained elusive whether the complex is recruited before or after the critical monoubiquitination. Here, we report the first structural insight into the human FANCD2-FANCI complex by obtaining the cryo-EM structure. The complex contains an inner cavity, large enough to accommodate a double-stranded DNA helix, as well as a protruding Tower domain. Disease-causing mutations in the Tower domain are observed in several FA patients. Our work reveals that recruitment of the complex to a stalled replication fork serves as the trigger for the activating monoubiquitination event. Taken together, our results uncover the mechanism of how the FANCD2-FANCI complex activates the FA pathway, and explains the underlying molecular defect in FA patients with mutations in the Tower domain.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 27405460 · DOI · PMC4947157
Patient-derived xenograft models of Fanconi anemia-associated head and neck cancer identify personalized therapeutic strategies [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Fanconi anemia (FA) confers a high risk (~700-fold increase) of solid tumor formation, most often head and neck squamous cell carcinoma (HNSCC).
- Closing excerpt
- These findings support the development of precision medicine approaches for FA-HNSCC.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (137 words)
Fanconi anemia (FA) confers a high risk (~700-fold increase) of solid tumor formation, most often head and neck squamous cell carcinoma (HNSCC). FA germline DNA repair defects preclude administration of most chemotherapies, and prior hematopoietic stem cell transplantation limits the use of immunotherapy. Thus, surgery and judicious delivery of radiation offer the only treatment options, with most patients dying from their cancers. A paucity of preclinical models has limited the development of new treatments. Here, we report what to our knowledge are the first patient-derived xenografts (PDXs) of FA-associated HNSCC (FA-HNSCC) and highlight the efficacy of FDA-approved EGFR-targeted therapies in tumors with high EGFR and phosphorylated EGFR levels and the activity of the FDA-approved B-cell lymphoma 2 (Bcl-2) inhibitor venetoclax in a FA-HNSCC PDX overexpressing Bcl-2. These findings support the development of precision medicine approaches for FA-HNSCC.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41401087 · DOI · PMC12904715
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article The Fanconi anaemia/BRCA pathway [5]
- Research article The Fanconi anaemia pathway: new players and new functions [6]
- Research article Fanconi anaemia and the repair of Watson and Crick DNA crosslinks [7]
- Research article Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins [8]
- Research article Fanconi anemia and its diagnosis [9]
- Research article Fanconi anaemia and cancer: an intricate relationship [10]
References
- Dong H, Nebert DW, Bruford EA, Thompson DC, Joenje H, Vasiliou V. Update of the human and mouse Fanconi anemia genes. . 2015. PMID 26596371 · DOI · PMC4657327
- Umansky C, Morellato AE, Rieckher M, Scheidegger MA, Martinefski MR, Fernández GA, et al.. Endogenous formaldehyde scavenges cellular glutathione resulting in redox disruption and cytotoxicity. . 2022. PMID 35136057 · DOI · PMC8827065
- Liang CC, Li Z, Lopez-Martinez D, Nicholson WV, Vénien-Bryan C, Cohn MA. The FANCD2-FANCI complex is recruited to DNA interstrand crosslinks before monoubiquitination of FANCD2. . 2016. PMID 27405460 · DOI · PMC4947157
- Grandis JR, Li H, Harrison BA, Webster AL, Pucilowska J, Nguyen A, et al.. Patient-derived xenograft models of Fanconi anemia-associated head and neck cancer identify personalized therapeutic strategies. . 2026. PMID 41401087 · DOI · PMC12904715
- D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer. 2003. PMID 12509764 · DOI
- Ceccaldi R, Sarangi P, D'Andrea AD. The Fanconi anaemia pathway: new players and new functions. Nat Rev Mol Cell Biol. 2016. PMID 27145721 · DOI
- Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature. 2013. PMID 23325218 · DOI · PMC3700363
- Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 2007. PMID 17768402 · DOI
- Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009. PMID 19622403 · DOI · PMC2742943
- Nalepa G, Clapp DW. Fanconi anaemia and cancer: an intricate relationship. Nat Rev Cancer. 2018. PMID 29376519 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
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