Evidence map›Paper›PMID 19731081›Full record

ArticleFamilial cancer2009

Molecular study of CEBPA in familial hematological malignancies.

R El Abed, V Bourdon, L Huiart, F Eisinger, A Khelif, M Frenay, P Gesta, L Demange, H Dreyfus, V Bonadona and 7 more

Abstract read
PubMed Publisher
In one paragraph

Article in Familial cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 86% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Familial hematological malignancies: ASXL1 gene investigation.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2016
    Article
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

17 authors at 12 institutions in 2 countries.

R El AbedFaculté de Médecine, UR Biologie Moléculaire des Leucémies et Lymphomes, Laboratoire de Biochimie, Sousse, Tunisia.
V Bourdon
L Huiart
F Eisinger
A Khelif
M Frenay
P Gesta
L Demange
H Dreyfus
V Bonadona
C Dugast
H Zattara
L Faivre
T Noguchi
R Sauvan
Z Soua
H Sobol
Inserm · FRUniversity of Sousse · TNAix-Marseille Université · FRCentre Antoine Lacassagne · FRCentre Eugène Marquis · FRCentre Hospitalier de Niort · FRCentre Léon Bérard · FRHôpital de la Timone · FRHôpital d'Enfants · FRHôpital Farhat Hached · TNInstitut Sainte Catherine · FRL’Institut du Cancer Courlancy Reims · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial aggregation in patients with several haematological malignancies has been described, but the genetic basis for this familial clustering is not known. Few genes predisposing to familial haematological malignancies have been identified, among which RUNX1 and CEBPA have been described as predisposing genes to acute myeloid leukemia (AML). Recent studies on RUNX1 suggest that germline mutations in this gene predispose to a larger panel of familial haematological malignancies than AML. In order to strengthen this hypothesis, we have screened CEBPA for germline mutations in several families presenting aggregation of hematological malignancies (including chronic or acute, lymphoid or myeloid leukemias, Hodgkin's or non Hodgkin's lymphomas, and myeloproliferative or myelodysplastic syndromes) with or without solid tumours. Although no deleterious mutations were found, we report two novel and rare variants of uncertain significance. In addition, we confirm that the in frame insertion c.1175_1180dup (p.P194_H195dup) is a germline polymorphism.

Indexed as

Genetic Predisposition to DiseaseAdultAmino Acid SequenceCCAAT-Enhancer-Binding ProteinsDNA Mutational AnalysisGerm-Line MutationHematologic NeoplasmsHumansMiddle AgedMolecular Sequence DataPolymerase Chain ReactionSequence AlignmentCCAAT-Enhancer-Binding ProteinsCEBPA protein, human

Identifiers

PMID19731081
OpenAlexW2105667676

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.