Pediatric Cancer Genetics and Genomics.

IF 7.9 2区 生物学 Q1 GENETICS & HEREDITY
Elaine R Mardis
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引用次数: 0

Abstract

Molecular profiling of DNA and RNA from pediatric cancers by next-generation sequencing has been demonstrated to improve diagnosis and prognosis and to identify somatic alterations indicating vulnerability to targeted therapies. Hence, much like in the treatment of adult cancers, molecular profiling is now routinely utilized in clinical workflows for pediatric cancers as a companion to conventional pathology diagnosis. Many variants of unknown significance identified through DNA profiling are being characterized by saturation genome editing, enabled by CRISPR editing technology and clever functional assays. Newer technologies and analytics are revealing additional structural complexity around cancer drivers and gene fusions in pediatric cancer DNA. Similarly, computational methods such as rare variant association studies and polygenic risk scoring are being used to identify novel cancer susceptibility. Together, these advances are expanding our understanding of pediatric cancer's complexity and fueling the development of emerging methods such as liquid biopsy-based monitoring.

儿童癌症遗传学和基因组学。
通过下一代测序对儿童癌症的DNA和RNA分子谱分析已被证明可以改善诊断和预后,并识别表明易受靶向治疗的体细胞改变。因此,就像在成人癌症的治疗中一样,分子谱分析现在被常规地用于儿科癌症的临床工作流程中,作为常规病理诊断的伴侣。通过DNA分析鉴定出的许多未知意义的变异都是通过饱和基因组编辑来表征的,这是由CRISPR编辑技术和智能功能分析实现的。更新的技术和分析揭示了儿童癌症DNA中癌症驱动因素和基因融合的额外结构复杂性。类似地,计算方法,如罕见变异关联研究和多基因风险评分被用于识别新的癌症易感性。总之,这些进展正在扩大我们对儿科癌症复杂性的理解,并推动新兴方法的发展,如基于液体活检的监测。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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