与斯里兰卡女性散发性乳腺癌临床病理特征相关的基因变异
Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.
作者信息
Sirisena Nirmala Dushyanthi, Adeyemo Adebowale, Kuruppu Anchala Ishani, Samaranayake Nilakshi, Dissanayake Vajira Harshadeva Weerabaddana
机构信息
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, USA.
出版信息
J Breast Cancer. 2018 Jun;21(2):165-172. doi: 10.4048/jbc.2018.21.2.165. Epub 2018 Jun 20.
PURPOSE
Several single nucleotide polymorphisms (SNPs) have been reported to be associated with clinicopathological profiles in sporadic breast cancer based on studies conducted on major population groups. The knowledge of the effects of these common genetic variants in South Asian populations remains limited. The present study aimed to investigate the association between a selected set of SNPs and the clinicopathological profiles in sporadic breast cancer in Sri Lankan women.
METHODS
A total of 350 postmenopausal women with histologically confirmed invasive breast cancer were genotyped for 58 SNPs located in 36 breast cancer related genes. The clinicopathological factors that were investigated included age of onset, tumor histologic grade, and lymph node involvement, as well as estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor 2 (HER2) status. Association testing was performed using logistic regression models adjusted for confounding factors.
RESULTS
Seven SNPs showed significant associations with clinicopathological profiles in breast cancer. The G allele of :rs799917 (=0.047; β [standard error; SE]=-1.069 [0.537]) and the G allele of :rs17136117 (=0.040, β [SE]=1.901 [0.923]) were found to be associated with age of onset between 50 and 59 years. The C allele of :rs13689 (odds ratio [OR], 2.121; =0.033) was found to be associated with ER-positive breast cancer. The A allele of :rs1130214 (OR, 2.095; =0.011) and the C allele of :rs2071002 (OR, 1.632; =0.045) were associated with HER2-positive breast cancer. The C allele of :rs15869 (OR, 1.600; =0.041) and the C allele of :rs7177 (OR, 1.555; =0.041) were associated with high tumor histologic grade.
CONCLUSION
The common genetic variants identified in the , , , , , and genes could serve as potential clinical and prognostic biomarkers in sporadic breast cancer patients. Further studies are required to validate our current findings in other populations.
目的
基于对主要人群组的研究，已有多项单核苷酸多态性（SNP）被报道与散发性乳腺癌的临床病理特征相关。然而，对于这些常见基因变异在南亚人群中的影响，我们的了解仍然有限。本研究旨在探讨一组选定的SNP与斯里兰卡女性散发性乳腺癌临床病理特征之间的关联。
方法
对350名经组织学确诊为浸润性乳腺癌的绝经后女性进行基因分型，检测位于36个乳腺癌相关基因中的58个SNP。所研究的临床病理因素包括发病年龄、肿瘤组织学分级、淋巴结受累情况，以及雌激素受体（ER）、孕激素受体和人表皮生长因子受体2（HER2）状态。采用经混杂因素调整的逻辑回归模型进行关联测试。
结果
7个SNP与乳腺癌的临床病理特征显示出显著关联。发现rs799917的G等位基因（=0.047；β[标准误；SE]= -1.069[0.537]）和rs17136117的G等位基因（=0.040，β[SE]=1.901[0.923]）与50至59岁的发病年龄相关。发现rs13689的C等位基因（优势比[OR]，2.121；=0.033）与ER阳性乳腺癌相关。rs1130214的A等位基因（OR，2.095；=0.011）和rs2071002的C等位基因（OR，1.632；=0.045）与HER2阳性乳腺癌相关。rs15869的C等位基因（OR，1.600；=0.041）和rs7177的C等位基因（OR，1.555；=0.041）与高肿瘤组织学分级相关。
结论
在、、、、和基因中鉴定出的常见基因变异可作为散发性乳腺癌患者潜在的临床和预后生物标志物。需要进一步研究以在其他人群中验证我们目前的发现。
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