携带易感性单核苷酸多态性的基因在乳腺癌亚型中存在差异表达。
Genes harbouring susceptibility SNPs are differentially expressed in the breast cancer subtypes.
作者信息
Nordgard Silje H, Johansen Fredrik E, Alnaes Grethe I G, Naume Bjørn, Børresen-Dale Anne-Lise, Kristensen Vessela N
机构信息
Department of Genetics, Institute of Cancer Research, Rikshospitalet-Radiumhospitalet Medical Centre, Montebello, N-0310 Oslo, Norway.
出版信息
Breast Cancer Res. 2007;9(6):113. doi: 10.1186/bcr1784.
Recently, genome-wide association studies of breast cancer revealed single nucleotide polymorphisms (SNPs) in five genes with novel association to susceptibility. While there is little doubt that the novel susceptibility markers produced from such highly powered studies are true, the mechanisms by which they cause the susceptibility remain undetermined. We have looked at the expression levels of the identified genes in tumours and found that they are highly significantly differentially expressed between the five established breast cancer subtypes. Also, a significant association between SNPs in these genes and their expression in tumours was seen as well as a significantly different frequency of the SNPs between the subtypes. This suggests that the observed genes are associated with different breast cancer subtypes, and may exert their effect through their expression in the tumours. Thus, future studies stratifying patients by their molecular subtypes may give much more power to classic case control studies, and genes of no or borderline significance may appear to be high-penetrant for certain subtypes and, therefore, be identifiable.
最近，乳腺癌的全基因组关联研究揭示了五个基因中的单核苷酸多态性（SNP）与易感性存在新的关联。尽管毫无疑问，此类大规模研究产生的新的易感性标记是真实的，但它们导致易感性的机制仍未确定。我们研究了肿瘤中已鉴定基因的表达水平，发现它们在五种已确定的乳腺癌亚型之间存在高度显著的差异表达。此外，还发现这些基因中的SNP与其在肿瘤中的表达之间存在显著关联，并且各亚型之间SNP的频率也存在显著差异。这表明观察到的基因与不同的乳腺癌亚型相关，并且可能通过它们在肿瘤中的表达发挥作用。因此，未来根据分子亚型对患者进行分层的研究可能会给经典的病例对照研究带来更大的效力，对于某些亚型而言，原本无显著意义或临界显著意义的基因可能会表现出高外显率，从而得以识别。
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