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MIR146A 基因中的 rs2910164:G>C SNP 与 BRCA1 和 BRCA2 突变携带者的乳腺癌风险无关。

The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

机构信息

CNRS UMR5286 Inserm U1052, Equipe Labellisée LIGUE 2008, Université Lyon 1, Cancer Research Centre of Lyon, Centre Léon Bérard, Lyon, France.

出版信息

Hum Mutat. 2011 Sep;32(9):1004-7. doi: 10.1002/humu.21539. Epub 2011 Jul 12.

DOI:10.1002/humu.21539
PMID:21591024
Abstract

The rs2910164:G>C SNP is located in the gene for miR-146a, a microRNA that binds the 3' UTR of the BRCA1 transcript. Preliminary data based on the analysis of a small number of cases suggested that this single nucleotide polymorphism (SNP) might be associated with the age of onset of familial breast and ovarian cancer. This effect was not confirmed on a large series of familial breast cancer cases negative for a BRCA1 or BRCA2 mutation. We show here a lack of association of the rs2910164:G>C SNP with breast cancer risk in a series of 1,166 BRCA1 and 560 BRCA2 mutation carriers. In conclusion, the polymorphism in the miR-146a gene is unlikely to be of substantial significance regarding breast cancer risk.

摘要

rs2910164:G>C 单核苷酸多态性位于 miR-146a 基因中,miR-146a 是一种 microRNA,可以结合 BRCA1 转录本的 3'UTR。基于对少数病例的分析得出的初步数据表明,这种单核苷酸多态性(SNP)可能与家族性乳腺癌和卵巢癌的发病年龄有关。但是,这一效应在大量 BRCA1 或 BRCA2 突变阴性的家族性乳腺癌病例中并未得到证实。我们在此显示,在一系列 1166 名 BRCA1 和 560 名 BRCA2 突变携带者中,rs2910164:G>C SNP 与乳腺癌风险之间缺乏关联。总之,miR-146a 基因中的多态性不太可能对乳腺癌风险具有重要意义。

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