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首页> 外文期刊>Journal of genetics >Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer
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Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer

机译：低渗敏感性变体和绝经后雌激素受体阳性乳腺癌

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摘要

The risk of breast cancer (BC) in women is high and many factors including genetic factors increase the risk for the disease. It is revealed that the variations of low-penetrance susceptibility genes are important for carcinogenesis as they interact with the environmental and hereditary factors. Recently, the list of BC-associated common single nucleotide polymorphisms (SNPs) and chromosomal loci in low-penetrance susceptibility genes have been expanded in genomewide association studies. FGFR2, LSP1, MAP3K1, TGFB1, TOX3, 2q35 and 8q loci variations are some examples for these common SNPs. These SNPs and their association with BC risk was investigated in many different populations. Therefore in this study, we aimed to evaluate low-penetrance susceptibility SNPs; namely FGFR2 rs1219648, rs2981579, rs2981582; MAP3K1 rs889312; TOX3 rs3803662; LSP1 rs909116, rs3817198 and SLC4A7 rs4973768 together, for the first time in Turkish postmenopausal oestrogen receptor positive BC cases. Following the DNA isolation, multiplex PCR and matrix-assisted laser desorption/ionization mass spectrometry with time of flight measurement (MALDI-TOF) based SNP analysis were performed. MAP3K1 rs889312 SNP demonstrated the strongest association with BC risk among the other low penetrant SNPs, it was also associated with BC risk in a dominant model. Only in a ressesive model, TOX3 rs3803662 was associated with BC risk. In addition, rs4973768 CC and rs909116 CC genotypes are correlated with higher tumour size which is not reported in the literature as yet; on the other hand there are no associations between any of the other SNP genotypes and clinopathological parameters. In our opinion, MAP3K1 rs889312 may be a good BC susceptibility biomarker candidate for Turkish population.
机译：女性患乳腺癌的风险很高，包括遗传因素在内的许多因素都会增加患乳腺癌的风险。研究表明，低外显易感性基因的变异与环境和遗传因素相互作用，对癌症的发生具有重要意义。最近，BC相关的常见单核苷酸多态性（SNPs）和低外显率易感基因的染色体位点列表在全基因组关联研究中得到了扩展。FGFR2、LSP1、MAP3K1、TGFB1、TOX3、2q35和8q基因座变异是这些常见SNP的一些例子。在许多不同人群中对这些SNP及其与BC风险的关联进行了调查。因此，在本研究中，我们旨在评估低外显率易感性SNPs；即FGFR2 rs1219648、rs2981579、rs2981582；MAP3K1 rs889312；TOX3 rs3803662；LSP1 rs909116、rs3817198和SLC4A7 rs4973768一起，首次出现在土耳其绝经后雌激素受体阳性的BC病例中。DNA分离后，进行多重PCR和基于飞行时间测量的基质辅助激光解吸/电离质谱（MALDI-TOF）SNP分析。在其他低渗透性SNP中，MAP3K1 rs889312 SNP与BC风险的相关性最强，在一个显性模型中，它也与BC风险相关。只有在应激模型中，TOX3 rs3803662与BC风险相关。此外，rs4973768 CC和rs909116 CC基因型与更大的肿瘤大小相关，这在文献中尚未报道；另一方面，其他SNP基因型与临床病理参数之间没有关联。我们认为，MAP3K1 rs889312可能是土耳其人群中一个很好的BC易感性生物标志物候选。

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