Dataset
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
| Dataset ID | Technology | Samples |
|---|---|---|
| EGAD00001007997 | Illumina NovaSeq 6000 | 31 |
Dataset Description
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.
Data Use Conditions
IS PUB US
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| Label | Code | Version | Modifier |
|---|---|---|---|
| general research use | DUO:0000042 | 2021-02-23 | |
| institution specific restriction | DUO:0000028 | 2021-02-23 | |
| publication required | DUO:0000019 | 2021-02-23 | |
| user specific restriction | DUO:0000026 | 2021-02-23 |
