Evidence map›Paper›PMID 25536437›Full record

ArticleGenetic testing and molecular biomarkers2015

RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma.

Rafaela Montalvão-de-Azevedo, Gisele M Vasconcelos, Fernando R Vargas, Luiz Claudio Thuler, Maria S Pombo-de-Oliveira, Beatriz de Camargo, Brazilian Embryonic Tumor Group

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In one paragraph

Article in Genetic testing and molecular biomarkers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 2 pooled it
0.5field-weighted citation impact, top 34% 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

8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 10 citations in OpenAlex.

  1. Pooled it
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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

7 authors at 1 institution in 2 countries.

Rafaela Montalvão-de-Azevedo1 Pediatric Hematology-Oncology Research Program, Instituto Nacional de Câncer , Rio de Janeiro, Brazil .
Gisele M Vasconcelos
Fernando R Vargas
Luiz Claudio Thuler
Maria S Pombo-de-Oliveira
Beatriz de Camargo
Brazilian Embryonic Tumor Group
Instituto Nacional de Câncer - INCA · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimEmbryonic tumors are associated with an interruption during normal organ development; they may be related to disturbances in the folate pathway involved in DNA synthesis, methylation, and repair. Prenatal supplementation with folic acid is associated with a decreased risk of neuroblastoma, brain tumors, retinoblastoma, and nephroblastoma. The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma. MATERIALS AND

methodsCase-mother/control-mother dyad study. Samples from Brazilian children with nephroblastoma (n=80), neuroblastoma (n=66), healthy controls (n=453), and their mothers (case n=93; control n=75) were analyzed. Genomic DNA was isolated from peripheral blood cells and/or buccal cells and genotyped to identify MTHFR C677T and RFC-1 G80A polymorphisms. Differences in genotype distribution between patients and controls were tested by multiple logistic regression analysis.

resultsRisk for nephroblastoma and neuroblastoma was two- to fourfold increased among children with RFC-1 polymorphisms. An increased four- to eightfold risk for neuroblastoma and nephroblastoma was seen when the child and maternal genotypes were combined.

conclusionOur results suggest that mother and child RFC-1 G80A genotypes play a role on the risk of neuroblastoma and nephroblastoma since this polymorphism may impair the intracellular levels of folate, through carrying fewer folate molecules to the cell interior, and thus, the intracellular concentration is not enough to maintain regular DNA synthesis and methylation pathways.

Indexed as

MothersPolymorphism, Single NucleotideBrazilCase-Control StudiesChildChild, PreschoolFemaleFolic AcidGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansInfantInfant, NewbornKidney NeoplasmsMaleFolic AcidMethylenetetrahydrofolate Reductase (NADPH2)Neoplasm ProteinsReplication Protein CRFC1 protein, human

Identifiers

PMID25536437
PMCPMC4313402
OpenAlexW1182855421

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Registered trials

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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.