Ginsburg Ophira, Ashton-Prolla Patricia, Cantor Anna, Mariosa Daniela, Brennan Paul
Perlmutter Cancer Center, NYU Langone Health, New York, NY, USA.
Section for Global Health, Division of Health and Behavior, Department of Population Health, NYU Grossman School of Medicine, New York, NY, USA.
Nat Rev Clin Oncol. 2021 Feb;18(2):116-128. doi: 10.1038/s41571-020-0428-5. Epub 2020 Sep 24.
Despite improvements in the understanding of cancer causation, much remains unknown regarding the mechanisms by which genomic and non-genomic factors initiate carcinogenesis, drive cell invasion and metastasis, and enable cancer to develop. Technological advances have enabled the analysis of whole genomes, comprising thousands of tumours across populations worldwide, with the aim of identifying mutation signatures associated with particular tumour types. Large collaborative efforts have resulted in the identification and improved understanding of causal factors, and have shed light on new opportunities to prevent cancer. In this new era in cancer genomics, discoveries from studies conducted on an international scale can inform evidence-based strategies in cancer control along the cancer care continuum, from prevention to treatment. In this Review, we present the relevant history and emerging frontiers of cancer genetics and genomics from the perspective of global cancer prevention. We highlight the importance of local context in the adoption of new technologies and emergent evidence, with illustrative examples from worldwide. We emphasize the challenges in implementing important genomic findings in clinical settings with disparate resource availability and present a conceptual framework for the translation of such findings into clinical practice, and evidence-based policies in order to maximize the utility for a population.
尽管在癌症病因的理解方面有所进步，但关于基因组和非基因组因素引发致癌作用、驱动细胞侵袭和转移以及促使癌症发展的机制，仍有许多未知之处。技术进步使得对全球范围内涵盖数千个肿瘤的全基因组进行分析成为可能，目的是识别与特定肿瘤类型相关的突变特征。大规模的合作努力已促成因果因素的识别和更好理解，并揭示了预防癌症的新机会。在癌症基因组学的这个新时代，国际范围内开展的研究得出的发现可为癌症防治连续过程（从预防到治疗）中基于证据的癌症控制策略提供信息。在本综述中，我们从全球癌症预防的角度介绍癌症遗传学和基因组学的相关历史及新兴前沿领域。我们通过来自世界各地的实例强调在采用新技术和新出现的证据时考虑当地情况的重要性。我们强调在资源可及性各异的临床环境中实施重要基因组发现所面临的挑战，并提出一个概念框架，用于将这些发现转化为临床实践以及基于证据的政策，以便为人群最大限度地发挥效用。
