Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
Population and Cancer Prevention Program, Case Comprehensive Cancer Center, Cleveland, Ohio.
Cancer Res. 2023 Aug 1;83(15):2443-2444. doi: 10.1158/0008-5472.CAN-23-1050.
Recent initiatives by the research community to characterize the genomic and molecular landscapes of tumors in ancestrally diverse and admixed populations, including the publication by Ding and colleagues in this issue of Cancer Research, represent important efforts to improve our understanding of the entire spectrum of cancer genomic variation with potential clinical consequences. Ding and colleagues confirmed a similar prevalence of mutations in established breast cancer driver genes including PIK3CA, TP53, GATA3, MAP3K1, CDH1, CBFB, PTEN, and RUNX1 and recurrent amplifications in breast cancer drivers including MYC, FGFR1, CCND1, and ERBB2 in tumors from Hispanic/Latina women as compared with non-Hispanic White women. Importantly, they also identified Catalogue of Somatic Mutations in Cancer (COSMIC) signature 16 in a significant fraction of tumors from Hispanic/Latina women and a novel recurrent amplification on 17q11.2. This study highlights the potential for inclusion of participants from diverse populations to accelerate discoveries and advance equity in genomic medicine, as well as the need for even larger collaborative initiatives. See related article by Ding et al., p. 2600.
最近，研究界发起了一些旨在描述具有不同祖先和混合血统的肿瘤的基因组和分子特征的倡议，包括 Ding 及其同事在本期《癌症研究》杂志上发表的文章，这些努力代表了提高我们对癌症基因组变异全貌的理解的重要努力，这些变异具有潜在的临床意义。Ding 及其同事证实，在西班牙裔/拉丁裔女性的肿瘤中，与非西班牙裔白人女性相比，包括 PIK3CA、TP53、GATA3、MAP3K1、CDH1、CBFB、PTEN 和 RUNX1 在内的已确立的乳腺癌驱动基因以及 MYC、FGFR1、CCND1 和 ERBB2 在内的乳腺癌驱动基因的突变以及反复扩增也具有相似的发生率。重要的是，他们还在相当一部分西班牙裔/拉丁裔女性的肿瘤中发现了 Catalogue of Somatic Mutations in Cancer (COSMIC) 特征 16，并在 17q11.2 上发现了一个新的反复扩增。这项研究强调了纳入来自不同人群的参与者以加速发现并促进基因组医学中的公平性的潜力，以及更大规模合作倡议的必要性。见 Ding 等人的相关文章，第 2600 页。
