Evidence map›Paper›PMID 14749703›Full record

ArticleLeukemia2004

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.

M D Tischkowitz, N V Morgan, D Grimwade, C Eddy, S Ball, I Vorechovsky, S Langabeer, R Stöger, S V Hodgson, C G Mathew

Abstract read
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In one paragraph

Article in Leukemia, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
3.0field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

38 citing papers in PubMed, 91 citations in OpenAlex.

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  11. Focal Point of Fanconi Anemia Signaling.International journal of molecular sciences · 2021
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 1 country.

M D TischkowitzDepartment of Medical and Molecular Genetics, Division of Genetics and Development Guy's, King's and St Thomas' School of Medicine, King's College London, Guy's Hospital, London, UK. mtischkowitz@doctors.org.uk
N V Morgan
D Grimwade
C Eddy
S Ball
I Vorechovsky
S Langabeer
R Stöger
S V Hodgson
C G Mathew
King's College London · GBGuy's Hospital · GBSouthampton General Hospital · GBSt George's Hospital · GBUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA,C,D2,E,F,G and BRCA2). Mutations in the FANCA gene are the most prevalent, accounting for two-thirds of FA cases. Affected individuals have greatly increased risks of acute myeloid leukemia (AML). This raises the question as to whether inherited or acquired mutations in FA genes might be involved in the development of sporadic AML. Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes. Four heterozygous deletions were found in 101 samples screened, which is 35-fold higher than the expected population frequency for germline FANCA deletions (P<0.0001). Sequencing FANCA in the AML samples with FANCA deletions did not detect mutations in the second allele and there was no evidence of epigenetic silencing by hypermethylation. However, real-time quantitative PCR analysis in these samples showed reduced expression of FANCA compared to nondeleted AML samples and to controls. These findings suggest that gene deletions and reduced expression of FANCA may be involved in the promotion of genetic instability in a subset of cases of sporadic AML.

Indexed as

DNA-Binding ProteinsGene DeletionAcute DiseaseAdolescentAdultAgedAged, 80 and overDNA MethylationDown-RegulationExonsFanconi AnemiaFanconi Anemia Complementation Group A ProteinFemaleGene Expression Regulation, NeoplasticGene SilencingHumansDNA-Binding ProteinsFANCA protein, humanFanconi Anemia Complementation Group A ProteinProteins

Identifiers

PMID14749703
OpenAlexW2016061380

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.