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>Gene copy number variation in male breast cancer by aCGH
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Gene copy number variation in male breast cancer by aCGH
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机译：aCGH在男性乳腺癌中的基因拷贝数变异
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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.
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机译：背景：男性乳腺癌（MBC）是一种罕见的疾病，对其病因病机知之甚少。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上的方法。这项研究的目的是研究aCGH的DNA失衡并将其与女性乳腺癌数据集进行比较。方法：我们使用安捷伦人类基因组CGH微阵列试剂盒44B和44K来比较在巴里NCC研究的25个男性乳腺癌组织中的基因组变化和基因表达综合（GSE12659）保藏的16个女性乳腺癌中的基因组变化。数据分析是使用Nexus Copy Number 5.0软件进行的。结果：所有25例男性和16例女性乳腺癌样本均表现出一定的染色体不稳定性（女性每位患者110.93例改变，男性69例）。然而，无论是在损失还是获得方面，男性样本的遗传变化发生率均较低。结论：aCGH是一种有效的工具，可用于分析MBC中的细胞遗传畸变，该过程涉及与女性不同的生物学过程。雄性最重要的改变区域包含与细胞通讯，细胞分裂和免疫反应有关的基因，而雌性细胞间连接维持，转录调节和神经元发育。
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