EGAS00001004066-2-sc-2021-08-02T15:15:07Z - samples

Cellular DNA damage caused by reactive oxygen species is repaired by the base excision repair (BER) pathway which includes the DNA glycosylase MUTYH. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma. However, the mechanistic progression from germline MUTYH mutations to MUTYH-Associated Polyposis (MAP) is incompletely understood. Here, we sequenced normal cell DNAs from 10 individuals with MAP and study the somatic mutation burden and mutational signatures.EGA dataset EGAD00001007958

活性氧簇（reactive oxygen species）引发的细胞DNA损伤，可通过包含DNA糖基化酶MUTYH的碱基切除修复（base excision repair，BER）通路完成修复。遗传性双等位基因MUTYH突变可使个体易患结直肠腺瘤与腺癌。然而，从生殖系MUTYH突变进展至MUTYH相关息肉病（MAP）的分子机制尚未完全阐明。本研究对10例MAP患者的正常细胞DNA进行测序，分析其体细胞突变负荷与突变特征。本数据集为欧洲基因组-表型档案（EGA）数据集EGAD00001007958。