Evidence map›Paper›PMID 26920143›Full record

ArticleBMC cancer2016

Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.

Chaymaa Marouf, Stella Göhler, Miguel Inacio Da Silva Filho, Omar Hajji, Kari Hemminki, Sellama Nadifi, Asta Försti

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 12% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. TheGenes · 2023
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  15. Genetics of breast cancer in African populations: a literature review.Global health, epidemiology and genomics · 2018
    Review
  16. Article
  17. The 30 kb deletion in theOncotarget · 2017
    Article
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  19. 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

7 authors at 3 institutions in 3 countries.

Chaymaa MaroufDepartment of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. maroufchaymaa@gmail.com.
Stella GöhlerDepartment of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. s.goehler@dkfz-heidelberg.de.
Miguel Inacio Da Silva FilhoDepartment of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. m.inacio@dkfz-heidelberg.de.
Omar HajjiDepartment of Oncology, Littoral Clinic, Casablanca, Morocco. o.hajji@cliniquelelittoral.ma.
Kari HemminkiDepartment of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. k.hemminki@dkfz-heidelberg.de.
Sellama NadifiLaboratory of Genetics and Molecular Pathology-Medical School of Casablanca, Casablanca, Morocco. nadifisel@yahoo.com.
Asta FörstiDepartment of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. a.foersti@dkfz-heidelberg.de.
Heidelberg University · DELund University · SEUniversity of Hassan II Casablanca · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast cancer (BC) is the most prevalent cancer in women and a major public health problem in Morocco. Several Moroccan studies have focused on studying this disease, but more are needed, especially at the genetic and molecular levels. Therefore, we investigated the potential association of several functional germline variants in the genes commonly mutated in sporadic breast cancer.

methodsIn this case-control study, we examined 36 single nucleotide polymorphisms (SNPs) in 13 genes (APOBEC3A, APOBEC3B, ARID1B, ATR, MAP3K1, MLL2, MLL3, NCOR1, RUNX1, SF3B1, SMAD4, TBX3, TTN), which were located in the core promoter, 5'-and 3'UTR or which were nonsynonymous SNPs to assess their potential association with inherited predisposition to breast cancer development. Additionally, we identified a ~29.5-kb deletion polymorphism between APOBEC3A and APOBEC3B and explored possible associations with BC. A total of 226 Moroccan breast cancer cases and 200 matched healthy controls were included in this study.

resultsThe analysis showed that12 SNPs in 8 driver genes, 4 SNPs in APOBEC3B gene and 1 SNP in APOBEC3A gene were associated with BC risk and/or clinical outcome at P ≤ 0.05 level. RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. A strong association with clinical outcome were detected for the genes SMAD4 _rs3819122 with tumor size (OR = 0.45; 95 % CI 0.25-0.82; P = 0.009) and TTN_rs2244492 with estrogen receptor (OR = 0.45; 95 % CI 0.25-0.82; P = 0.009).

conclusionOur results suggest that genetic variations in driver and APOBEC3 genes were associated with the risk of BC and may have impact on clinical outcome. However, the reported association between the deletion polymorphism and BC risk was not confirmed in the Moroccan population. These preliminary findings require replication in larger studies.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGerm-Line MutationPopulation SurveillanceAdultAgedAllelesBiomarkers, TumorBreast NeoplasmsCase-Control StudiesCell Transformation, NeoplasticCytidine DeaminaseFemaleGene FrequencyGenotypeHumansAPOBEC3A protein, humanBiomarkers, TumorCytidine DeaminaseProteins

Identifiers

PMID26920143
PMCPMC4768349
OpenAlexW2288006622

What OpenQuestion holds

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LicenceCC BY
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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.