医学
小儿癌症
DNA损伤
基因
DNA损伤修复
DNA修复
骨肉瘤
癌症研究
癌症
遗传倾向
遗传变异
生物信息学
肿瘤科
儿童癌症
DNA
临床意义
突变
遗传学
遗传性癌症
基因检测
作者
Ninad Oak,Wenan Chen,Alise K. Blake,Lynn Harrison,Martha A. O’Brien,Christopher Previti,Gnanaprakash Balasubramanian,Kendra K. Maaß,Steffen Hirsch,Judith Penkert,Barbara C. Jones,Kathrin Schramm,Michaela Nathrath,Kristian W. Pajtler,David Jones,Olaf Witt,Uta Dirksen,Jiaming Li,Yadav Sapkota,Kirsten K. Ness
摘要
Our study confirms the relevance DDR genetic variation in pediatric cancer risk and establishes SMARCAL1 as a novel OS predisposing gene, providing insights into tumor biology and creating opportunities to optimize care for patients with this challenging tumor.
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