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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.

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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
EGAF00005439847 cram 3.3 GB
EGAF00005439848 cram 9.9 GB
EGAF00005439849 cram 3.5 GB
EGAF00005439850 cram 3.5 GB
EGAF00005439851 cram 2.8 GB
EGAF00005439852 cram 10.1 GB
EGAF00005439853 cram 9.9 GB
EGAF00005439854 cram 4.3 GB
EGAF00005439855 cram 1.7 GB
EGAF00005439856 cram 3.3 GB
EGAF00005439857 cram 11.0 GB
EGAF00005439858 cram 14.3 GB
EGAF00005439859 cram 10.9 GB
EGAF00005439860 cram 3.2 GB
EGAF00005439861 cram 9.9 GB
EGAF00005439862 cram 3.5 GB
EGAF00005439863 cram 3.5 GB
EGAF00005439864 cram 2.8 GB
EGAF00005439865 cram 10.0 GB
EGAF00005439866 cram 9.9 GB
EGAF00005439867 cram 4.2 GB
EGAF00005439868 cram 1.7 GB
EGAF00005439869 cram 3.2 GB
EGAF00005439870 cram 11.0 GB
EGAF00005439871 cram 14.3 GB
EGAF00005439872 cram 10.9 GB
EGAF00005439873 cram 2.7 GB
EGAF00005439874 cram 2.7 GB
EGAF00005439875 cram 2.5 GB
EGAF00005439876 cram 2.6 GB
EGAF00005439877 cram 3.0 GB
EGAF00005439878 cram 2.5 GB
EGAF00005439879 cram 11.3 GB
EGAF00005439880 cram 1.9 GB
EGAF00005439881 cram 2.6 GB
EGAF00005439882 cram 10.4 GB
EGAF00005439883 cram 12.8 GB
EGAF00005439884 cram 2.7 GB
EGAF00005439885 cram 2.7 GB
EGAF00005439886 cram 2.4 GB
EGAF00005439887 cram 2.5 GB
EGAF00005439888 cram 3.0 GB
EGAF00005439889 cram 2.5 GB
EGAF00005439890 cram 11.2 GB
EGAF00005439891 cram 1.9 GB
EGAF00005439892 cram 2.6 GB
EGAF00005439893 cram 10.3 GB
EGAF00005439894 cram 12.8 GB
EGAF00005439895 cram 4.9 GB
EGAF00005439896 cram 5.0 GB
EGAF00005439897 cram 4.8 GB
EGAF00005439898 cram 4.7 GB
EGAF00005439899 cram 5.9 GB
EGAF00005439900 cram 4.5 GB
EGAF00005439901 cram 5.2 GB
EGAF00005439902 cram 4.8 GB
EGAF00005439903 cram 5.0 GB
EGAF00005439904 cram 4.8 GB
EGAF00005439905 cram 4.6 GB
EGAF00005439906 cram 5.8 GB
EGAF00005439907 cram 4.4 GB
EGAF00005439908 cram 5.0 GB
EGAF00005439909 cram 5.7 GB
EGAF00005439910 cram 5.8 GB
EGAF00005439911 cram 5.9 GB
EGAF00005439912 cram 5.6 GB
EGAF00005439913 cram 6.6 GB
EGAF00005439914 cram 5.7 GB
EGAF00005439915 cram 4.6 GB
EGAF00005439916 cram 5.8 GB
EGAF00005439917 cram 5.7 GB
EGAF00005439918 cram 5.7 GB
EGAF00005439919 cram 5.9 GB
EGAF00005439920 cram 5.6 GB
EGAF00005439921 cram 6.6 GB
EGAF00005439922 cram 5.7 GB
EGAF00005439923 cram 4.6 GB
EGAF00005439924 cram 5.8 GB
106 Files (541.1 GB)