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地标系列:癌症基因组图谱与乳腺癌差异研究。

Landmark Series: The Cancer Genome Atlas and the Study of Breast Cancer Disparities.

机构信息

Department of Surgery, New York Presbyterian, Weill Cornell Medicine, New York, NY, USA.

Columbia University, New York, NY, USA.

出版信息

Ann Surg Oncol. 2023 Oct;30(11):6427-6440. doi: 10.1245/s10434-023-13866-w. Epub 2023 Aug 16.

Abstract

Race-related variation in breast cancer incidence and mortality are well-documented in the United States. The effect of genetic ancestry on disparities in tumor genomics, risk factors, treatment, and outcomes of breast cancer is less understood. The Cancer Genome Atlas (TCGA) is a publicly available resource that has allowed for the recent emergence of genome analysis research seeking to characterize tumor DNA and protein expression by ancestry as well as the social construction of race and ethnicity. Results from TCGA based studies support previous clinical evidence that demonstrates that American women with African ancestry are more likely to be afflicted with breast cancers featuring aggressive biology and poorer outcomes compared with women with other backgrounds. Data from TCGA based studies suggest that Asian women have tumors with favorable immune microenvironments and may experience better disease-free survival compared with white Americans. TCGA contains limited data on Hispanic/Latinx patients due to small sample size. Overall, TCGA provides important opportunities to define the molecular, biologic, and germline genetic factors that contribute to breast cancer disparities.

摘要

在美国,乳腺癌发病率和死亡率的种族差异是有充分记录的。遗传背景对肿瘤基因组学、风险因素、治疗和乳腺癌结局差异的影响了解较少。癌症基因组图谱(TCGA)是一个公开的资源,最近出现了一些基因组分析研究,这些研究试图通过遗传背景来描述肿瘤的 DNA 和蛋白质表达,以及种族和民族的社会构建。基于 TCGA 的研究结果支持了先前的临床证据,即与其他背景的女性相比,具有非裔美国人血统的美国女性更有可能患有具有侵袭性生物学特征和较差结局的乳腺癌。基于 TCGA 的研究数据表明,亚洲女性的肿瘤具有有利的免疫微环境,与白种美国人相比,她们可能有更好的无病生存率。由于样本量小,TCGA 中关于西班牙裔/拉丁裔患者的数据有限。总的来说,TCGA 为确定导致乳腺癌差异的分子、生物学和种系遗传因素提供了重要机会。

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