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急性淋巴细胞白血病的遗传易感性:代表国际柏林-法兰克福-明斯特儿童急性淋巴细胞白血病协作组宿主遗传变异工作组的概述

Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group.

作者信息

Kratz Christian Peter, Stanulla Martin, Cavé Hélène

机构信息

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

出版信息

Eur J Med Genet. 2016 Mar;59(3):111-5. doi: 10.1016/j.ejmg.2015.10.003. Epub 2015 Dec 15.

DOI:10.1016/j.ejmg.2015.10.003
PMID:26699264
Abstract

Environmental causes of childhood acute lymphoblastic leukemia (ALL) remain largely undiscovered. In contrast, multiple germline ALL risk variants have been identified in the recent years. Apart from the low-risk common ALL risk alleles identified through genome wide association studies, rare germline mutations that cause cancer prone syndromes have been found to be associated with an increased risk of developing ALL. Here, we review the germline genetic changes known to be associated with ALL.

摘要

儿童急性淋巴细胞白血病(ALL)的环境病因在很大程度上仍未被发现。相比之下,近年来已鉴定出多个种系ALL风险变异。除了通过全基因组关联研究确定的低风险常见ALL风险等位基因外,已发现导致癌症易感综合征的罕见种系突变与ALL发生风险增加有关。在此,我们综述已知与ALL相关的种系遗传变化。

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