Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA; Cancer Prevention Fellowship Program, Division of Cancer Prevention, National Cancer Institute, Rockville, MD, USA.
Leuk Res. 2023 Mar;126:107022. doi: 10.1016/j.leukres.2023.107022. Epub 2023 Jan 24.
Mosaic chromosomal alterations (mCAs) are the clonal expansion of large somatically acquired structural chromosomal changes present on the autosomes and sex chromosomes. Most studies of mCAs use existing genotype array intensity data from large populations to investigate potential risk factors and disease outcomes associated with mCAs. In this review, we perform a comprehensive examination of existing evidence for mCA disease and mortality associations and provide a framework for interpreting these associations in the context of important biases specific to mCA studies. Our goal is to motivate well-designed mCA studies to assist in unlocking the potential of mCAs to improve understanding of the effects of ageing and accelerate translational applications for improving public health.
镶嵌染色体改变（mCAs）是指在常染色体和性染色体上存在的大型体细胞获得性结构染色体改变的克隆性扩增。大多数 mCAs 的研究使用来自大人群的现有基因型阵列强度数据来研究与 mCAs 相关的潜在风险因素和疾病结果。在这篇综述中，我们对现有的 mCA 疾病和死亡率相关性证据进行了全面检查，并提供了一个框架，以便在 mCA 研究特有的重要偏倚的背景下解释这些相关性。我们的目标是激励精心设计的 mCA 研究，以帮助挖掘 mCAs 的潜力，从而增进对衰老影响的理解，并加速转化应用以改善公众健康。
