ArticleCurrent protocols in human genetics2015
Diagnosis of Fanconi anemia by diepoxybutane analysis.
Article in Current protocols in human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed.
- Metformin for treatment of cytopenias in children and young adults with Fanconi anemia.Blood advances · 2022Trial
- Telomere length analysis using qPCR in aplastic anemia: prevalence and predictive value for germline mutation status.Blood research · 2026Article
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Evaluation of predictive biomarkers for late radiation toxicity in breast cancer patients.Scientific reports · 2025Article
- Red Blood Cell Antioxidant State in Fanconi Anemia: The Highlighted Roles of Pi-Class Glutathione S-Transferase and Glutathione Peroxidase.Antioxidants (Basel, Switzerland) · 2025Article
- Regression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.American journal of hematology · 2025Article
- Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.American journal of hematology · 2025Observational
- A porcine model of Fanconi anemia.PloS one · 2025Article
- Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.Genetics in medicine open · 2025Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors.Frontiers in medicine · 2024Article
- When to consider inherited marrow failure syndromes in adults.Hematology. American Society of Hematology. Education Program · 2023Article
- Identification of a robust DNA methylation signature for Fanconi anemia.American journal of human genetics · 2023Article
- Article
- The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelicFrontiers in oncology · 2023Review
- Approach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies.Current hematologic malignancy reports · 2022Review
- Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.International journal of molecular sciences · 2022Review
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
- Article
- Review
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1 author.
Funding
Abstract
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer, particularly hematological malignancies and solid tumors of the head and neck. The main role of FA proteins is in the repair of DNA interstrand crosslinks (ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing genomic instability. Although the highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, diagnosis based on a profound sensitivity to DNA-crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. Diepoxybutane (DEB) analysis is the preferred test for FA because other agents have higher rates of false-positive and false-negative results.
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