Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
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.
- 31 samples
- DAC: EGAC00001000000
- Technology: Illumina NovaSeq 6000
- PUB DUO:0000019 (version: 2021-02-23)publication requiredThis data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
- US DUO:0000026 (version: 2021-02-23)user specific restrictionThis data use modifier indicates that use is limited to use by approved users.
- IS DUO:0000028 (version: 2021-02-23)institution specific restrictionThis data use modifier indicates that use is limited to use within an approved institution.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001004066 | Cancer Genomics |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00005343657 | cram | 3.6 GB | ||
| EGAF00005343658 | cram | 3.6 GB | ||
| EGAF00005343684 | cram | 3.5 GB | ||
| EGAF00005343685 | cram | 3.6 GB | ||
| EGAF00005343711 | cram | 3.5 GB | ||
| EGAF00005343712 | cram | 3.6 GB | ||
| EGAF00005343738 | cram | 3.7 GB | ||
| EGAF00005343739 | cram | 3.8 GB | ||
| EGAF00005343749 | cram | 2.9 GB | ||
| EGAF00005343750 | cram | 3.9 GB | ||
| EGAF00005343751 | cram | 3.2 GB | ||
| EGAF00005343752 | cram | 3.2 GB | ||
| EGAF00005343753 | cram | 3.1 GB | ||
| EGAF00005343763 | cram | 3.9 GB | ||
| EGAF00005343764 | cram | 3.2 GB | ||
| EGAF00005343765 | cram | 3.2 GB | ||
| EGAF00005343766 | cram | 3.2 GB | ||
| EGAF00005343776 | cram | 2.9 GB | ||
| EGAF00005343777 | cram | 3.8 GB | ||
| EGAF00005343778 | cram | 3.1 GB | ||
| EGAF00005343779 | cram | 3.1 GB | ||
| EGAF00005343780 | cram | 3.1 GB | ||
| EGAF00005343790 | cram | 3.0 GB | ||
| EGAF00005343791 | cram | 3.9 GB | ||
| EGAF00005343792 | cram | 3.2 GB | ||
| EGAF00005343793 | cram | 3.2 GB | ||
| EGAF00005407348 | cram | 3.0 GB | ||
| EGAF00005407349 | cram | 3.1 GB | ||
| 28 Files (94.1 GB) | ||||