Ozdemir Filiz, Koksal Mehtap, Ozmen Vahit, Aydin Ibrahim, Buyru Nur
Cerrahpasa Medical Faculty, Department of Medical Biology, Istanbul University, Kocamustafapasa, Istanbul, 34098, Turkey.
Tumour Biol. 2014 Jun;35(6):5219-25. doi: 10.1007/s13277-014-1678-6. Epub 2014 Feb 12.
The transcription factor KLF6 gene has been identified as a tumor suppressor because of its inactivation in several types of cancers by different mechanisms. However, there are no data in the literature investigating the KLF6 mutation rate and expression levels in breast cancer. Therefore, the present study was conducted in order to investigate whether genetic alterations of KLF6 in association with the KLF6 mRNA expression levels may play a role in breast carcinogenesis. For this purpose, we analyzed alterations of the KLF6 gene by direct sequencing and the mRNA levels by reverse transcription-PCR (RT-PCR). In addition to four different non-coding alterations, one missense and two silent alterations were identified in the coding sequence. Reduced KLF6 expression was observed in 41 (83.67 %) of the 49 breast cancer tumors. These findings suggest that the mutation profile of the KLF6 gene in breast tumors is similar to other cancer types. However, these mutations do not exert any effect on the gene expression rate. Downregulation of KLF6 during the progression of breast cancer is independent of the mutations and occurs by a different mechanism.
转录因子KLF6基因已被确定为一种肿瘤抑制因子，因为它在几种类型的癌症中通过不同机制失活。然而，文献中没有关于乳腺癌中KLF6突变率和表达水平的研究数据。因此，本研究旨在调查KLF6的基因改变及其mRNA表达水平是否在乳腺癌发生过程中起作用。为此，我们通过直接测序分析了KLF6基因的改变，并通过逆转录-聚合酶链反应（RT-PCR）分析了mRNA水平。除了四种不同的非编码改变外，在编码序列中还鉴定出一种错义改变和两种沉默改变。在49个乳腺癌肿瘤中的41个（83.67%）中观察到KLF6表达降低。这些发现表明，乳腺肿瘤中KLF6基因的突变谱与其他癌症类型相似。然而，这些突变对基因表达率没有任何影响。乳腺癌进展过程中KLF6的下调与突变无关，且通过不同机制发生。
