Avalanching mutations in biallelic mismatch repair deficiency syndrome

被引：4
|
作者：
Waterfall, Joshua J. [1 ]
Meltzer, Paul S. [1 ]
机构：
[1] NCI, Genet Branch, Ctr Canc Res, Bethesda, MD 20892 USA
来源：
NATURE GENETICS | 2015年 / 47卷 / 03期
关键词：
DNA-POLYMERASE; CANCER; NEUROFIBROMATOSIS; CARCINOMA;
D O I：
10.1038/ng.3227
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Tumors from pediatric patients generally contain relatively few somatic mutations. A new study reports a striking exception in individuals in whom biallelic germline deficiency for mismatch repair is compounded by somatic loss of function in DNA proofreading polymerases, resulting in 'ultra-hypermutated' malignant brain tumors.
引用
收藏
页码：194 / 196
页数：4
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