Alonso-Luna Oscar, Mercado-Celis Gabriela E, Melendez-Zajgla Jorge, Zapata-Tarres Marta, Mendoza-Caamal Elvia
Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, UNAM, Ciudad de México, CDMX, México.
Laboratorio de Genómica Clínica, División de Estudios de Posgrado e Investigación, Facultad de Odontologia, UNAM, Ciudad de México, CDMX, México.
Ann Hum Genet. 2023 May;87(3):81-90. doi: 10.1111/ahg.12502. Epub 2023 Mar 10.
Childhood cancer is a leading cause of death by disease in children ages 5-14, for which there are no preventive strategies. Due to early-age of diagnosis and short period of exposure to environmental factors, increasing evidence suggests childhood cancer could have strong association with germline alterations in predisposition cancer genes but, their frequency and distribution are largely unknown. Several efforts have been made to develop tools to identify children with increased risk of cancer who may benefit from genetic testing but their validation and application on a large scale is necessary. Research on genetic bases of childhood cancer is ongoing, in which several approaches for the identification of genetic variants related to cancer predisposition have been used. In this paper, we discuss the updated efforts, strategies, molecular mechanisms and clinical implications for germline predisposition gene alterations and the characterization of risk variants in childhood cancer.
儿童癌症是5至14岁儿童因病死亡的主要原因，目前尚无预防策略。由于诊断年龄早且接触环境因素的时间短，越来越多的证据表明儿童癌症可能与易感癌症基因的种系改变密切相关，但其频率和分布情况 largely unknown。已经做出了多项努力来开发工具，以识别可能从基因检测中受益的癌症风险增加的儿童，但有必要对其进行大规模验证和应用。关于儿童癌症遗传基础的研究正在进行中，其中已经使用了几种方法来识别与癌症易感性相关的基因变异。在本文中，我们讨论了儿童癌症种系易感性基因改变的最新研究进展、策略、分子机制和临床意义，以及风险变异的特征。
