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种系突变是儿童癌症的一个病因。

Germline Mutations as a Cause of Childhood Cancer.

作者信息

Rashed Wafaa M, Marcotte Erin L, Spector Logan G

机构信息

Research Department, Children's Cancer Hospital-Egypt 57357 (CCHE-57357), Cairo, Egypt.

Division of Epidemiology/Clinical, Research, Department of Pediatrics, University of Minnesota, Minneapolis, MN.

出版信息

JCO Precis Oncol. 2022 Jul;6:e2100505. doi: 10.1200/PO.21.00505.

Abstract

Germline de novo mutations (DNMs) represent one of the important topics that need extensive attention from epidemiologists, geneticists, and other relevant stakeholders. Advances in next-generation sequencing technologies allowed examination of parent-offspring trios to ascertain the frequency of germline DNMs. Many epidemiological risk factors for childhood cancer are indicative of DNMs as a mechanism. The aim of this review was to give an overview of germline DNMs, their causes in general, and to discuss their relation to childhood cancer risk. In addition, we highlighted existing gaps in knowledge in many topics of germline DNMs in childhood cancer that need exploration and collaborative efforts.

摘要

种系新生突变(DNMs)是流行病学家、遗传学家和其他相关利益者需要广泛关注的重要课题之一。下一代测序技术的进步使得对亲子三联体进行检测以确定种系DNMs的频率成为可能。儿童癌症的许多流行病学危险因素表明DNMs是一种发病机制。本综述的目的是概述种系DNMs、其一般病因,并讨论它们与儿童癌症风险的关系。此外,我们强调了儿童癌症种系DNMs许多主题中存在的知识空白,这些空白需要探索和合作努力。

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