ArticleHuman mutation2018
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 64 citations in OpenAlex.
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
- Activation-induced cytidine deaminase (AID) suppresses the activity of HBV EnhII/CP by downregulating FANCE expression.Virus genes · 2026Article
- Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series.International journal of molecular sciences · 2026Article
- Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.MedScience · 2026Article
- Tracking Cytopenias inmedRxiv : the preprint server for health sciences · 2025Article
- Reference-free RNA profiling predicts triple negative breast cancer chemoresistance to neoadjuvant treatment.NAR cancer · 2025Article
- Olaparib maintenance therapy for recurrent adult granulosa cell tumors: A case report.The journal of obstetrics and gynaecology research · 2025Article
- Unveiling a pathogenicExperimental and therapeutic medicine · 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
- FANCA promotes lung adenocarcinoma progression and is a potential target for epitope vaccine immunotherapy.Journal of translational medicine · 2024Article
- Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Medicine · 2024Review
- Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis.Cancers · 2024Article
- Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.Acta dermato-venereologica · 2024Article
- Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia.Pediatric discovery · 2024Article
- FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.Blood advances · 2024Article
- Gastric cancer with Fanconi anemia in adolescent and young adult patient diagnosed by comprehensive genome profiling using next-generation sequencing.Clinical journal of gastroenterology · 2024Article
- Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells.Nature communications · 2022Article
- Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.Genes, chromosomes & cancer · 2022Article
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we employed multiple methodologies, screening 216 families for FANCA mutations. We describe identification of 57 large deletions and 261 sequence variants, in 159 families. All but seven families harbored distinct combinations of two mutations demonstrating high heterogeneity. Pathogenicity of the 18 novel missense variants was analyzed functionally by determining the ability of the mutant cDNA to improve the survival of a FANCA-null cell line when treated with MMC. Overexpressed pathogenic missense variants were found to reside in the cytoplasm, and nonpathogenic in the nucleus. RNA analysis demonstrated that two variants (c.522G > C and c.1565A > G), predicted to encode missense variants, which were determined to be nonpathogenic by a functional assay, caused skipping of exons 5 and 16, respectively, and are most likely pathogenic. We report 48 novel FANCA sequence variants. Defining both variants in a large patient cohort is a major step toward cataloging all FANCA variants, and permitting studies of genotype-phenotype correlations.
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