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NEJM：儿童癌症患者易感基因的种系突变

2015-11-19 崔倩 译 MedSci原创

儿童癌症患者易感基因种系突变
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儿童和青少年癌症的发病率和易感基因突变的范围在很大程度上是未知的。关于这种突变的认识可提高对肿瘤的发生，直接护理患者的认识，使患者和家庭能够进行遗传咨询。

儿童和青少年癌症的发病率和易感基因突变的范围在很大程度上是未知的。关于这种突变的认识可提高对肿瘤的发生，直接护理患者的认识，使患者和家庭能够进行遗传咨询。

在1120例年龄小于20岁的患者中，研究人员进行了全基因组测序（595例），全外显子组测序（456例），或两者都进行测序（69例）。对于种系突变的存在，研究人员分析了565个基因的DNA序列，其中包括60个与常染色体显性遗传性癌症的易感性综合征有关的基因。突变的致病性是由医学专家使用癌症特异性和位点特异性基因数据库、医学文献、计算预测，而且在肿瘤基因组中识别出的二次点击来确定。同样的方法被用于分析来自***基因组计划中966例没有癌症患者的数据，以及类似的方法被用来分析来自一项孤独症的研究的数据（515人患有自闭症，208人没有自闭症）。

95例癌症患者（8.5％）被确定有致病性或可能致病性的基因突变，而***基因组计划中有1.1％，自闭症研究中有0.6％的患者有类似的情况。在受影响的患者中最常见的突变基因是TP53（50例）、APC（6例）、BRCA2（6例）、NF1（4例）、PMS2（4例）、RB1（3例）和RUNX1（3例）。共有18例额外的患者有蛋白质的截短/缺失突变的肿瘤抑制基因。在有诱发突变和现有的家族史资料的58例患者中，23（40％）例有癌症家族史。

在儿童和青少年癌症患者中，8.5％的被确定为癌症易感基因的胚系突变。在多数患者中，家族史没有预测潜在的倾向综合征的存在。

原始出处：

Jinghui Zhang,Michael F. Walsh,Gang Wu,et al.Germline Mutations in Predisposition Genes in Pediatric Cancer,NEJM,2015.11.18

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    2016-10-14 fengyi812

    #种系突变#

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    2015-11-20 zgwhgch

    #癌症患者#

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    2015-11-20 passed water

    #易感基因#

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    2015-11-20 guozhenyu

    #儿童癌症#

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