Department of Epidemiology, The University of Texas MD Anderson Cancer Center, 1515 Pressler Street, Houston, TX, 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Moursund Street, Houston, TX, 77030, USA.
Curr Oncol Rep. 2023 Mar;25(3):211-220. doi: 10.1007/s11912-023-01362-z. Epub 2023 Jan 31.
Clonal hematopoiesis (CH) is an age-dependent process detectable using advanced sequencing technologies and is associated with multiple adverse health outcomes including cardiovascular disease and cancer. The purpose of this review is to summarize known causes of CH mutations and to identify key areas and considerations for future research on CH.
Studies have identified multiple potential causes of CH mutations including smoking, cancer therapies, cardiometabolic disease, inflammation, and germline risk factors. Additionally, large-scale studies have facilitated the identification of gene-specific effects of CH mutation risk factors that may have unique downstream health implications. For example, cancer therapies and sources of environmental radiation appear to cause CH through their impact on DNA damage repair genes. There is a growing body of evidence defining risk factors for CH mutations. Standardization in the identification of CH mutations may have important implications for future research. Additional studies in underrepresented populations and their diverse environmental exposures are needed to facilitate broad public health impact of the study of CH mutations.
克隆性造血(CH)是一种可通过先进测序技术检测到的与年龄相关的过程,与多种不良健康结果相关,包括心血管疾病和癌症。本综述的目的是总结 CH 突变的已知原因,并确定 CH 研究未来的重点领域和考虑因素。
研究已经确定了多个 CH 突变的潜在原因,包括吸烟、癌症治疗、心血管代谢疾病、炎症和种系危险因素。此外,大规模研究促进了 CH 突变危险因素的基因特异性效应的鉴定,这些效应可能具有独特的下游健康影响。例如,癌症治疗和环境辐射源似乎通过影响 DNA 损伤修复基因而导致 CH。越来越多的证据定义了 CH 突变的危险因素。CH 突变的鉴定标准化可能对未来的研究具有重要意义。需要在代表性不足的人群及其不同的环境暴露中进行更多的研究,以促进 CH 突变研究对公众健康的广泛影响。