Kinney Nick, Varghese Robin T, Anandakrishnan Ramu, Garner Harold R Skip
Center for Bioinformatics and Genetics & Primary Care Research Network, Edward Via College of Osteopathic Medicine, Blacksburg, VA, USA.
Gibbs Cancer Center & Research Institute, Spartanburg, SC, USA.
Cancer Inform. 2017 Dec 13;16:1176935117746644. doi: 10.1177/1176935117746644. eCollection 2017.
African American woman are 43% more likely to die from breast cancer than white women and have increased the risk of tumor recurrence despite lower incidence. We investigate variations in microsatellite genomic regions-a type of repetitive DNA-and possible links to the breast cancer mortality gap. We screen 33 854 microsatellites in germline DNA of African American women with and without breast cancer: 4 are statistically significant. These are located in the 3' UTR (untranslated region) of gene , an intron of transcribed pseudogene , an intron of ribosomal gene , and an intergenic region of chromosome 16. The marker in is interesting for 3 reasons: (a) the gene is located in region 3p21 which has already been linked to early invasive breast cancer, (b) the Kaplan-Meier estimator demonstrates that alterations are associated with poor breast cancer survival in all racial/ethnic groups combined, and (c) data from cBioPortal suggest that messenger RNA expression is significantly lower in African Americans compared with whites. These independent lines of evidence make a candidate for further investigation.
非裔美国女性死于乳腺癌的可能性比白人女性高43%，尽管发病率较低，但肿瘤复发风险却有所增加。我们研究了微卫星基因组区域（一种重复性DNA）的变异情况以及与乳腺癌死亡率差距的可能联系。我们在患有和未患有乳腺癌的非裔美国女性的生殖系DNA中筛选了33854个微卫星：其中4个具有统计学意义。它们分别位于基因的3'非翻译区（UTR）、转录假基因的一个内含子、核糖体基因的一个内含子以及16号染色体的一个基因间区域。位于[具体基因名称]中的标记物有三个有趣之处：（a）[具体基因名称]基因位于3p21区域，该区域已与早期浸润性乳腺癌相关联；（b）卡普兰-迈耶估计器表明，[具体基因名称]的改变与所有种族/族裔群体合并后的乳腺癌不良生存情况相关；（c）来自cBioPortal的数据表明，与白人相比，非裔美国人中[具体基因名称]信使RNA的表达明显较低。这些独立的证据线索使[具体基因名称]成为进一步研究的候选对象。
