Signatures of mismatch repair deficiency in cancer genomes

DNA replication errors occurring in mismatch repair (MMR) deficient cells persist as mismatch mutations and predispose to a range of tumors. Here, we sequenced the first whole-genomes from MMR-deficient endometrial tumors.

在缺乏错配修复（MMR）缺陷的细胞中发生的DNA复制错误会持续以错配突变的形式存在，并导致多种肿瘤的易感性增加。本研究中，我们对首个缺乏MMR的子宫内膜肿瘤的全基因组进行了测序。