ReviewFamilial cancer2004
Fanconi anemia in Ashkenazi Jews.
Review in Familial cancer, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 60 citations in OpenAlex.
- Two decades of stem cell transplantation in patients with Fanconi anemia: Analysis of factors affecting transplant outcomes.Clinical transplantation · 2023Article
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.American journal of medical genetics. Part A · 2022Article
- Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.JNCI cancer spectrum · 2021Article
- Oral Tongue Cancer in a Patient with Fanconi Anemia: A Case Report and Literature Review.Cancer management and research · 2021Article
- Article
- Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.Haematologica · 2020Article
- Chromosome instability syndromes.Nature reviews. Disease primers · 2019Review
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Haematologica · 2018Article
- A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Molecular genetics & genomic medicine · 2017Article
- Differential analysis of mutations in the Jewish population and their implications for diseases.Genetics research · 2017Article
- Update of the human and mouse Fanconi anemia genes.Human genomics · 2015Review
- Article
- Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.American journal of human genetics · 2007Article
- [Acute bilateral vision loss in Fanconi anemia].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.