The DNMT3B C→T promoter polymorphism and risk of breast cancer in a British population: a case-control studyReportar como inadecuado

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Breast Cancer Research

, 6:R390

First Online: 19 May 2004Received: 05 February 2004Revised: 23 April 2004Accepted: 30 April 2004


BackgroundGene promoter methylation is an important regulator of expression and is a key epigenetic factor in tumorigenesis. DNA methylation is mediated by DNA methyltransferases DNMTs, of which three active forms have been identified: DNMT1, DNM3A and DNMT3B. The C→T transition polymorphism C46359T in the promoter of the DNMT3B gene, which significantly increases transcriptional activity, has been postulated to increase the propensity for promoter-hypermethylation-mediated silencing of tumour suppressor genes.

MethodsTo determine the role of this polymorphism in breast cancer, we genotyped 352 cases and 258 controls from a British population. The breast cancer cases were selected on the basis of either an age at onset of less than 40 years, a family history of breast cancer irrespective of age at onset, or bilateral breast cancer diagnosed after 39 years of age irrespective of family history.

ResultsThe C allele was found to be more common in case subjects than in control subjects cases, 0.59; controls, 0.54 corresponding to a nominally significant increase in breast cancer risk to heterozygotes and CC homozygotes odds ratio 1.51, 95% confidence interval 1.01–2.25 in the dominant inheritance model.

ConclusionsOur findings contrast with those of a previous study, which showed that individuals carrying at least one T allele have a significantly increased risk of developing lung cancer. This discrepancy might be an artefact resulting from a chance variation, or it might point to differing influences of promoter hypermethylation in these cancer types.

Keywordsbreast cancer DNMT3B methylation polymorphism AbbreviationsCIconfidence interval

DNMTDNA methyltransferase

ORodds ratio

PCRpolymerase chain reaction.

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Autor: Karen G Montgomery - Mira CP Liu - Diana M Eccles - Ian G Campbell


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