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Gene Copy Number Variation in Male Breast Cancer by aCGH

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.
机译:背景:男性乳腺癌(MBC)是一种罕见的疾病,对其发病机理知之甚少。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Bari NCC研究的25种男性乳腺癌组织的基因组变化。 16例女性乳腺癌存入了Gene Expression Omnibus(GSE12659)。使用Nexus Copy Number 5.0软件进行数据分析。结果:所有25位男性和16位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次改变,男性69位)。然而,无论是在损失还是获得方面,雄性样品的遗传变化频率都较低。结论:aCGH是一种有效的工具,可用于分析MBC中的细胞遗传异常,其生物学过程与雌性有关。雄性最重要的变化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,转录调控和神经元发育。

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