Analysis of BRCA1 and mtDNA haplotypes and mtDNA polymorphism in familial breast cancer.

Mitochondrial Dna Pub Date : 2015-04-01 Epub Date: 2013-08-28 DOI:10.3109/19401736.2013.825773
Cristina Gutiérrez Povedano, Josefa Salgado, Carmen Gil, Maitane Robles, Ana Patiño-García, Jesús García-Foncillas
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引用次数: 17

Abstract

Mitochondrial DNA (mtDNA) defects have been postulated to play an important role in the modulation and/or progression of cancer. In the past decade, a wide spectrum of mtDNA variations have been suggested as potentially sensitive and specific biomarkers for several human cancer types. In this context, single nucleotide polymorphisms (SNPs) described as protective or risk variants have been published, in particular in breast cancer, though not without controversy. Moreover, many mtDNA haplogroups have been associated with different phenotypes and diseases. We genotyped 18 SNPs, 15 of them defining European mtDNA haplogroups, including SNPs described as protective or risk variants, 7 SNPs that determine BRCA1 haplotypes and a BRCA1 intron 7 polymorphism. We included in this study 90 Caucasian unrelated women with breast cancer with familial criteria and 96 controls. Our aim was to clarify the importance of any of these SNPs, mitochondrial haplogroups and BRCA1 haplotypes in the modulation of breast cancer. We detected no significant differences in the distribution of BRCA1 haplotypes between patients and controls. Haplogroup U and the 12308G variant of mtDNA were overrepresented within the control group (p = 0.005 and p = 0.036, respectively) compared to breast cancer. Finally, we identified a significant association between the BRCA1 intron 7 polymorphism and BRCA1 haplotypes. Specifically, (TTC)6/6 and (TTC)6/7 genotypes with the seven polymorphic site cassette of "H2-like" haplotypes, and the (TTC)7/7 genotype associated with the "H1-like" haplotypes (p < 0.001).

家族性乳腺癌BRCA1和mtDNA单倍型及mtDNA多态性分析。
线粒体DNA (mtDNA)缺陷被认为在癌症的调节和/或进展中起重要作用。在过去的十年中,广泛的mtDNA变异被认为是几种人类癌症类型的潜在敏感和特异性生物标志物。在这种背景下,单核苷酸多态性(snp)被描述为保护性或风险变异,特别是在乳腺癌中,尽管并非没有争议。此外,许多mtDNA单倍群与不同的表型和疾病有关。我们对18个snp进行了基因分型,其中15个定义了欧洲mtDNA单倍群,包括被描述为保护性或风险变异的snp, 7个决定BRCA1单倍型和BRCA1内含子7多态性的snp。我们在这项研究中纳入了90名无血缘关系的患有家族性乳腺癌的高加索女性和96名对照。我们的目的是阐明这些snp、线粒体单倍群和BRCA1单倍型在乳腺癌调节中的重要性。我们发现BRCA1单倍型在患者和对照组之间的分布没有显著差异。与乳腺癌相比,对照组中单倍群U和mtDNA 12308G变体的比例过高(分别为p = 0.005和p = 0.036)。最后,我们确定了BRCA1内含子7多态性与BRCA1单倍型之间的显著关联。其中,(TTC)6/6和(TTC)6/7基因型与7个“h2样”单倍型多态性位点盒相关,(TTC)7/7基因型与“h1样”单倍型相关(p < 0.001)。
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来源期刊
Mitochondrial Dna
Mitochondrial Dna 生物-遗传学
自引率
0.00%
发文量
0
审稿时长
2.4 months
期刊介绍: Previously published under the title DNA Sequence (Vols 1-19.3), Mitochondrial DNA accepts original high-quality reports based on mapping, sequencing and analysis of mitochondrial DNA and RNA. Descriptive papers on DNA sequences from mitochondrial genomes, and also analytical papers in the areas of population genetics, medical genetics, phylogenetics and human evolution that use mitochondrial DNA as a source of evidence for studies will be considered for publication. The editorial board will also consider manuscripts that examine population genetic and systematic theory that specifically address the use of mitochondrial DNA sequences.
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