推动在祖先多样性和混种人群中开展基因组研究的努力。
Efforts to Grow Genomic Research in Ancestrally Diverse and Admixed Populations.
发表日期:2023 Aug 01
作者:
Stephanie L Schmit, Kristen Purrington, Jane C Figueiredo
来源:
CANCER RESEARCH
摘要:
最近,研究界通过对来自祖先多样性和混合种群的肿瘤进行基因组和分子景观的表征,包括Ding等人在本期《癌症研究》杂志上的发表,表示了改善我们对具有潜在临床后果的癌症基因组变异整个谱系的理解的重要努力。Ding等人确认了与非西班牙裔白人相比,西班牙裔/拉丁裔妇女肿瘤中已确认的乳腺癌驱动基因(包括PIK3CA,TP53,GATA3,MAP3K1,CDH1,CBFB,PTEN和RUNX1)突变的类似普遍性以及乳腺癌驱动基因(包括MYC,FGFR1,CCND1和ERBB 2)的经常发生扩增。值得注意的是,他们还在西班牙裔/拉丁裔妇女肿瘤中发现了Catalogue of Somatic Mutations in Cancer(COSMIC)签名16的大部分肿瘤以及17q11.2上的新颖经常发生扩增。这项研究凸显了包括来自多样人群的参与者以加速发现和推进基因组医学公平的潜力,以及更大规模合作倡议的需求。详见Ding等人的相关文章,第2600页,©2023美国癌症研究协会。
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.©2023 American Association for Cancer Research.