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通过 aCGH 检测男性乳腺癌中的基因拷贝数变异。

Gene copy number variation in male breast cancer by aCGH.

机构信息

National Cancer Centre of Bari, Bari, Italy.

出版信息

Anal Cell Pathol (Amst). 2010;33(3):113-9. doi: 10.3233/ACP-CLO-2010-0544.

Abstract

BACKGROUND

Male breast cancer (MBC) is a rare disease and little is known about its etiopathogenesis. Array comparative genomic hybridization (aCGH) provides a method to quantitatively measure the changes of DNA copy number and to map them directly onto the complete linear genome sequences. The aim of this study was to investigate DNA imbalances by aCGH and compare them with a female breast cancer dataset.

METHODS

We used Agilent Human Genome CGH Microarray Kit 44B and 44K to compare genomic alterations in 25 male breast cancer tissues studied at NCC of Bari and 16 female breast cancer deposited with the Gene Expression Omnibus (GSE12659). Data analysis was performed with Nexus Copy Number 5.0 software.

RESULTS

All the 25 male and 16 female breast cancer samples displayed some chromosomal instability (110.93 alterations per patient in female, 69 in male). However, male samples presented a lower frequency of genetic alterations both in terms of loss and gains.

CONCLUSION

aCGH is an effective tool for analysis of cytogenetic aberrations in MBC, which involves different biological processes than female. Male most significant altered regions contained genes involved in cell communication, cell division and immunological response, while female cell-cell junction maintenance, regulation of transcription and neuron development.

摘要

背景

男性乳腺癌(MBC)是一种罕见的疾病,其病因发病机制知之甚少。阵列比较基因组杂交(aCGH)提供了一种定量测量 DNA 拷贝数变化并将其直接映射到完整线性基因组序列的方法。本研究旨在通过 aCGH 研究 DNA 失衡,并将其与女性乳腺癌数据集进行比较。

方法

我们使用 Agilent Human Genome CGH Microarray Kit 44B 和 44K 比较了在巴里 NCC 研究的 25 例男性乳腺癌组织和基因表达 Omnibus(GSE12659)中存放的 16 例女性乳腺癌组织中的基因组改变。数据分析使用 Nexus Copy Number 5.0 软件进行。

结果

所有 25 例男性和 16 例女性乳腺癌样本均显示出一些染色体不稳定性(女性患者每例有 110.93 种遗传改变,男性有 69 种)。然而,男性样本的遗传改变频率较低,无论是缺失还是获得。

结论

aCGH 是分析 MBC 细胞遗传学异常的有效工具,它涉及到不同于女性的生物学过程。男性最显著改变的区域包含涉及细胞通讯、细胞分裂和免疫反应的基因,而女性则包含细胞-细胞连接维持、转录调控和神经元发育的基因。

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