Hypermutation takes the driver’s seat

被引：0
作者：
Matthias Schlesner
Roland Eils
机构：
[1] German Cancer Research Center (DKFZ),Division of Theoretical Bioinformatics (B080)
[2] Heidelberg University,Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant
[3] German Cancer Research Center (DKFZ),Heidelberg Center for Personalised Oncology (DKFZ
来源：
Genome Medicine | / 7卷
关键词：
Chronic Lymphocytic Leukemia; Mutational Load; PolE Mutation; Repair Deficiency; Exonic Mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Most pediatric tumors have only very few somatic mutations. However, a recent study revealed that a subset of tumors from children with congenital biallelic deficiency of DNA mismatch repair exhibits a mutational load surpassing almost all other cancers. In these ultra-hypermutated tumors, somatic mutations in the proofreading DNA polymerases complement the congenital mismatch repair deficiency to completely abolish replication repair, thereby driving tumor development. These findings open several possibilities for exploiting ultra-hypermutation for cancer therapy.
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