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首页> 外文期刊>Tumour biology : >Germline copy number variations associated with breast cancer susceptibility in a Japanese population.
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Germline copy number variations associated with breast cancer susceptibility in a Japanese population.

机译:在日本人群中,与乳腺癌易感性相关的生殖系拷贝数变异。

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Although copy number variations (CNVs) are expected to affect various diseases, little is known about the association between CNVs and breast cancer susceptibility. Therefore, we investigated this relation. Array comparative genomic hybridization was performed to search for candidate CNVs related to breast cancer susceptibility. Subsequent quantitative real-time polymerase chain reaction was carried out for confirmation. We found seven CNV markers associated with breast cancer risk. The means of the relative copy numbers of patients with a history of breast cancer and women in the control group were 0.8 and 1.8 for Hs06535529_cn on 1p36.12 (P?
机译:尽管预计拷贝数变异(CNV)会影响各种疾病,但对CNV与乳腺癌易感性之间的关联知之甚少。因此,我们研究了这种关系。进行阵列比较基因组杂交以搜索与乳腺癌易感性有关的候选CNV。随后进行定量实时聚合酶链反应以确认。我们发现了7种与乳腺癌风险相关的CNV标记。对照组中有乳腺癌病史的患者和女性的相对拷贝数平均值在1p36.12时为Hs06535529_cn为0.8和1.8(P 0.0001),在3q26.1时为Hs03103056_cn分别为2.9和2.2(P Hs03899300_cn于15q26.3时为( 0.0001),1.2和1.8(P 0.0001),15q26.3时为Hs03908783_cn为1.0和1.5(P≥<0.0001),15q26.3时的Hs03898338_cn为1.1和1.7。 (P≤<0.0001)。有趣的是,在22q12.3上仅在8/193(4.1%)有乳腺癌病史的患者中发现了9份或更多的Hs04093415_cn拷贝,而在对照组中均没有发现(P <= 0.0081)。同样,仅在7/193(3.6%)有乳腺癌病史的患者中发现12个或更多Hs040908898_cn在22q12.3上的拷贝,而在对照组中均未发现(P <= 0.016)。两种CNV的组合可预测乳腺癌易感性,灵敏度为80.3%,特异性为80.6%,阳性预测值为82.4%,阴性预测值为78.3%。这些发现可能会导致一种新的乳腺癌风险评估方法。需要使用独立数据集进行验证性研究以支持我们的发现。

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