Georgia Cancer Center at Augusta University, Augusta, GA, USA.
Georgia Cancer Center at Augusta University, Augusta, GA, USA.
Genomics. 2019 Dec;111(6):1529-1542. doi: 10.1016/j.ygeno.2018.10.010. Epub 2018 Oct 23.
Triple negative breast cancer (TNBC) is more prevalent in African Americans (AAs), has a more aggressive clinical course including a higher mortality rate and an increased occurrence of metastases. This study was designed to determine if racial differences at the molecular level might explain the more aggressive phenotype in AAs. Mutation profiling, was performed on 51 AA and 77 CA tumor/ normal pairs. Transcript expression analysis was performed on 35AA and 37CA. Genes with high frequency mutation rates such as MUC4 and TP53 were common to both racial populations, however genes that were less frequently mutated differed between the races suggesting that those cause the more aggressive nature of TNBC in AA women. JAK-Stat and HER2 signaling were unique to the AA and PTEN and mTOR were unique to the CA profiles. Many pathways identified by the mutational profiles were predicted to be down-regulated by the transcript expression profiles.
三阴性乳腺癌（TNBC）在非裔美国人（AA）中更为普遍，其临床病程更具侵袭性，包括死亡率更高和转移发生率增加。本研究旨在确定分子水平的种族差异是否可以解释 AA 中更具侵袭性的表型。对 51 对 AA 和 77 对 CA 肿瘤/正常对进行了突变分析。对 35 对 AA 和 37 对 CA 进行了转录表达分析。MUC4 和 TP53 等高频突变率的基因在两个种族群体中都很常见，但是突变率较低的基因在种族之间存在差异，这表明这些基因导致 AA 女性 TNBC 的更具侵袭性。JAK-Stat 和 HER2 信号在 AA 中是独特的，而 PTEN 和 mTOR 在 CA 谱中是独特的。突变分析鉴定的许多途径被预测为转录表达谱下调。
