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

页码：194 / 196

页数：4

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