Evidence map›Paper›PMID 29544444›Full record

ArticleBMC cancer2018

Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.

Hanaa Hardi, Rahma Melki, Zouhour Boughaleb, Tijani El Harroudi, Souria Aissaoui, Noureddine Boukhatem

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Article in BMC cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.1field-weighted citation impact, top 20% of its field
1 · What the graph read from it

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3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 15 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Hanaa HardiLaboratory of Physiology, Genetics and Ethnopharmacology, Department of Biology, Faculty of Sciences, University of Mohammed First, Oujda, Morocco.
Rahma MelkiLaboratory of Physiology, Genetics and Ethnopharmacology, Department of Biology, Faculty of Sciences, University of Mohammed First, Oujda, Morocco. r.melki@ump.ac.ma.ORCID 0000-0003-1684-8332
Zouhour BoughalebOncology Center Mohamed VI Ibn Rochd, Casablanca, Morocco.
Tijani El HarroudiFaculty of Medecine, University of Mohammed First, Oujda, Morocco.
Souria AissaouiHospices Civiles de Lyon, Lyon, France.
Noureddine BoukhatemLaboratory of Physiology, Genetics and Ethnopharmacology, Department of Biology, Faculty of Sciences, University of Mohammed First, Oujda, Morocco.
Mohamed I University · MACentre Hospitalier Universitaire Ibn Rochd · MAHospices Civils de Lyon · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population.

methodsWe genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls. Allelic, genotypic and haplotype associations with the risk and clinicopathological features of BC were assessed using logistic regression analyses.

resultsERCC2-rs1799793-AA genotype was associated with high risk of BC compared to wild type genotype (recessive model: OR: 2.90, 95% CI: 1.34-6.26, p = 0.0069) even after Bonferroni correction (p < 0,0125). MTHFR rs1801133-TT genotype was associated with increased risk of BC (recessive model, OR: 2.49, 95% CI: 1.17-5.29, p = 0.017) but the association turned insignificant after Bonferroni correction. For the rest of SNPs, no statistical associations to BC risk were detected. Significant association with clinical features was detected for MTHFR-rs1801133-TC genotype with early age at diagnosis and familial BC. Following Bonferroni correction, only association with familial BC remained significant. MTHFR-rs1801131-CC genotype was associated with sporadic BC. ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer. ERCC2-rs13181-CA genotype was significantly associated large tumors (T ≥ 3) in BC patients. None of these associations passed Bonferroni correction. Haplotype analysis showed that ERCC2 A-C haplotype was significantly associated with increased BC risk (OR: 3.71, 95% CI: 1.7-8.12, p = 0.0002 and p = 0.0008 before and after Bonferroni correction, respectively) and positive expression of ER and PR in BC patients. ERCC2 G-C haplotype was correlated with PR negative and larger tumor (T4). We did not find any MTHFR haplotypes associated with BC susceptibility. However, the less common haplotype MTHFR T-C was more frequent in young patients and in familial breast cancer, while MTHFR C-C haplotype was associated with sporadic BC form.

conclusionsOur findings are a first observation of association between ERCC2 SNPs and breast cancer in Moroccan population. The results suggested that ERCC2 and MTHFR polymorphisms may be reliable for assessing risk and prognosis of BC in Moroccan population.

Indexed as

Polymorphism, Single NucleotideAdultAgedBiomarkers, TumorBreast NeoplasmsCarcinoma, Ductal, BreastCarcinoma, LobularCase-Control StudiesFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLymphatic MetastasisMethylenetetrahydrofolate Reductase (NADPH2)Biomarkers, TumorERCC2 protein, humanMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humanXeroderma Pigmentosum Group D ProteinBreast cancerERCC2GeneticsHaplotypeMoroccan populationMTHFRSingle nucleotide polymorphism

Identifiers

PMID29544444
PMCPMC5856390
OpenAlexW2803415566

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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.