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Mutational landscape of normal epithelial cells in Lynch Syndrome patients

Lynch Syndrome (LS) is an autosomal dominant disease conferring a high risk of colorectal cancer due to germline heterozygous mutations in a DNA mismatch repair (MMR) gene. Although cancers in LS patients show elevated somatic mutation burdens, information on mutation rates in normal tissues and understanding of the trajectory from normal to cancer cell is limited. Here we whole-genome sequenced 152 crypts from normal and neoplastic epithelial tissues from LS patients. In normal tissues the repertoire of mutational processes and mutation rates were similar to those found in wild type individuals. A morphologically normal colonic crypt with an increased mutation burden and mutational signatures consistent with MMR deficiency was identified, which may represent a very early stage of LS pathogenesis. Phylogenetic tress of tumour crypts indicated that the most recent ancestor cell of each tumour was already MMR deficient and had experienced multiple clonal evolution cycles. This study demonstrates the genomic stability of epithelial cells with heterozygous germline MMR gene mutations and highlights important differences in the pathogenesis of LS from other colorectal cancer predisposition syndromes.

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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
EGAS00001003012 Other
EGAS00001003089 Other
EGAS00001003882 Whole Genome Sequencing

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
EGAF00005466495 cram 23.7 GB
EGAF00005466496 cram 26.2 GB
EGAF00005466497 cram 22.9 GB
EGAF00005466498 cram 20.7 GB
EGAF00005466499 cram 25.5 GB
EGAF00005466500 cram 22.3 GB
EGAF00005466501 cram 23.7 GB
EGAF00005466502 cram 20.8 GB
EGAF00005466503 cram 24.1 GB
EGAF00005466504 cram 19.7 GB
EGAF00005466505 cram 20.9 GB
EGAF00005466506 cram 12.6 GB
EGAF00005466507 cram 11.7 GB
EGAF00005466508 cram 13.6 GB
EGAF00005466509 cram 12.0 GB
EGAF00005466510 cram 11.2 GB
EGAF00005466511 cram 12.8 GB
EGAF00005466512 cram 20.9 GB
EGAF00005466513 cram 25.5 GB
EGAF00005466514 cram 24.5 GB
EGAF00005466515 cram 20.8 GB
EGAF00005466516 cram 25.8 GB
EGAF00005466517 cram 22.1 GB
EGAF00005466518 cram 18.0 GB
EGAF00005466519 cram 19.7 GB
EGAF00005466520 cram 22.6 GB
EGAF00005466521 cram 22.7 GB
EGAF00005466522 cram 18.2 GB
EGAF00005466523 cram 22.0 GB
EGAF00005466524 cram 23.8 GB
EGAF00005466525 cram 19.9 GB
EGAF00005466526 cram 20.2 GB
EGAF00005466527 cram 20.8 GB
EGAF00005466528 cram 20.3 GB
EGAF00005466529 cram 17.0 GB
EGAF00005466530 cram 21.0 GB
EGAF00005466531 cram 21.5 GB
EGAF00005466532 cram 22.1 GB
EGAF00005466533 cram 19.1 GB
EGAF00005466534 cram 21.5 GB
EGAF00005466535 cram 19.9 GB
EGAF00005466536 cram 21.8 GB
EGAF00005466537 cram 21.1 GB
EGAF00005466538 cram 20.1 GB
EGAF00005466539 cram 22.0 GB
EGAF00005466540 cram 19.5 GB
EGAF00005466541 cram 21.1 GB
EGAF00005466542 cram 21.1 GB
EGAF00005466543 cram 17.6 GB
EGAF00005466544 cram 24.0 GB
EGAF00005466545 cram 21.2 GB
EGAF00005466546 cram 18.3 GB
EGAF00005466547 cram 21.0 GB
EGAF00005466548 cram 16.1 GB
EGAF00005466549 cram 19.4 GB
EGAF00005466550 cram 23.6 GB
EGAF00005466551 cram 20.7 GB
EGAF00005466552 cram 22.4 GB
EGAF00005466553 cram 21.7 GB
EGAF00005466554 cram 19.0 GB
EGAF00005466555 cram 21.5 GB
EGAF00005466556 cram 21.5 GB
EGAF00005466557 cram 17.3 GB
EGAF00005466558 cram 21.8 GB
EGAF00005466559 cram 21.7 GB
EGAF00005466560 cram 19.0 GB
EGAF00005466561 cram 19.9 GB
EGAF00005466562 cram 16.8 GB
EGAF00005466563 cram 22.0 GB
EGAF00005466564 cram 20.6 GB
EGAF00005466565 cram 22.2 GB
EGAF00005466566 cram 21.3 GB
EGAF00005466567 cram 20.4 GB
EGAF00005466568 cram 23.8 GB
EGAF00005466569 cram 21.3 GB
EGAF00005466570 cram 19.0 GB
EGAF00005466571 cram 20.4 GB
EGAF00005466572 cram 22.8 GB
EGAF00005466573 cram 4.8 GB
EGAF00005466574 cram 4.6 GB
EGAF00005466575 cram 4.5 GB
EGAF00005466576 cram 4.9 GB
EGAF00005466577 cram 4.3 GB
EGAF00005466578 cram 5.0 GB
EGAF00005466579 cram 4.2 GB
EGAF00005466580 cram 4.7 GB
EGAF00005466581 cram 4.0 GB
EGAF00005466582 cram 5.1 GB
EGAF00005466583 cram 4.0 GB
EGAF00005466584 cram 5.7 GB
EGAF00005466585 cram 4.9 GB
EGAF00005466586 cram 3.8 GB
EGAF00005466587 cram 4.7 GB
EGAF00005466588 cram 4.7 GB
EGAF00005466589 cram 5.1 GB
EGAF00005466590 cram 4.2 GB
EGAF00005466591 cram 4.1 GB
EGAF00005466592 cram 4.9 GB
EGAF00005466593 cram 3.7 GB
EGAF00005466594 cram 4.6 GB
EGAF00005466595 cram 4.8 GB
EGAF00005466596 cram 4.2 GB
EGAF00005466597 cram 4.5 GB
EGAF00005466598 cram 4.6 GB
EGAF00005466599 cram 5.5 GB
EGAF00005466600 cram 4.1 GB
EGAF00005466601 cram 4.3 GB
EGAF00005466602 cram 5.2 GB
EGAF00005466603 cram 5.1 GB
EGAF00005466604 cram 4.8 GB
EGAF00005466605 cram 4.7 GB
EGAF00005466606 cram 4.5 GB
EGAF00005466607 cram 5.0 GB
EGAF00005466608 cram 4.4 GB
EGAF00005466609 cram 5.0 GB
EGAF00005466610 cram 4.2 GB
EGAF00005466611 cram 4.8 GB
EGAF00005466612 cram 4.1 GB
EGAF00005466613 cram 5.1 GB
EGAF00005466614 cram 4.1 GB
EGAF00005466615 cram 5.8 GB
EGAF00005466616 cram 5.0 GB
EGAF00005466617 cram 3.8 GB
EGAF00005466618 cram 4.7 GB
EGAF00005466619 cram 4.8 GB
EGAF00005466620 cram 5.1 GB
EGAF00005466621 cram 4.3 GB
EGAF00005466622 cram 4.1 GB
EGAF00005466623 cram 4.9 GB
EGAF00005466624 cram 3.7 GB
EGAF00005466625 cram 4.6 GB
EGAF00005466626 cram 4.8 GB
EGAF00005466627 cram 4.2 GB
EGAF00005466628 cram 4.6 GB
EGAF00005466629 cram 4.7 GB
EGAF00005466630 cram 5.6 GB
EGAF00005466631 cram 4.1 GB
EGAF00005466632 cram 4.4 GB
EGAF00005466633 cram 5.3 GB
EGAF00005466634 cram 5.1 GB
EGAF00005466635 cram 4.8 GB
EGAF00005466636 cram 4.7 GB
EGAF00005466637 cram 4.5 GB
EGAF00005466638 cram 5.0 GB
EGAF00005466639 cram 4.4 GB
EGAF00005466640 cram 5.0 GB
EGAF00005466641 cram 4.2 GB
EGAF00005466642 cram 4.8 GB
EGAF00005466643 cram 4.1 GB
EGAF00005466644 cram 5.1 GB
EGAF00005466645 cram 4.1 GB
EGAF00005466646 cram 5.8 GB
EGAF00005466647 cram 5.0 GB
EGAF00005466648 cram 3.8 GB
EGAF00005466649 cram 4.7 GB
EGAF00005466650 cram 4.8 GB
EGAF00005466651 cram 5.1 GB
EGAF00005466652 cram 4.3 GB
EGAF00005466653 cram 4.2 GB
EGAF00005466654 cram 4.9 GB
EGAF00005466655 cram 3.7 GB
EGAF00005466656 cram 4.7 GB
EGAF00005466657 cram 4.9 GB
EGAF00005466658 cram 4.2 GB
EGAF00005466659 cram 4.6 GB
EGAF00005466660 cram 4.7 GB
EGAF00005466661 cram 5.6 GB
EGAF00005466662 cram 4.1 GB
EGAF00005466663 cram 4.4 GB
EGAF00005466664 cram 5.3 GB
EGAF00005466665 cram 5.2 GB
EGAF00005466666 cram 4.8 GB
EGAF00005466667 cram 4.7 GB
EGAF00005466668 cram 4.6 GB
EGAF00005466669 cram 5.0 GB
EGAF00005466670 cram 4.4 GB
EGAF00005466671 cram 5.1 GB
EGAF00005466672 cram 4.2 GB
EGAF00005466673 cram 4.8 GB
EGAF00005466674 cram 4.1 GB
EGAF00005466675 cram 5.2 GB
EGAF00005466676 cram 4.1 GB
EGAF00005466677 cram 5.8 GB
EGAF00005466678 cram 5.0 GB
EGAF00005466679 cram 3.8 GB
EGAF00005466680 cram 4.8 GB
EGAF00005466681 cram 4.8 GB
EGAF00005466682 cram 5.2 GB
EGAF00005466683 cram 4.3 GB
EGAF00005466684 cram 4.1 GB
EGAF00005466685 cram 4.9 GB
EGAF00005466686 cram 3.8 GB
EGAF00005466687 cram 4.6 GB
EGAF00005466688 cram 4.9 GB
EGAF00005466689 cram 4.2 GB
EGAF00005466690 cram 4.6 GB
EGAF00005466691 cram 4.7 GB
EGAF00005466692 cram 5.6 GB
EGAF00005466693 cram 4.1 GB
EGAF00005466694 cram 4.4 GB
EGAF00005466695 cram 5.3 GB
EGAF00005466696 cram 5.2 GB
EGAF00005466697 cram 4.5 GB
EGAF00005466698 cram 5.3 GB
EGAF00005466699 cram 4.0 GB
EGAF00005466700 cram 5.1 GB
EGAF00005466701 cram 5.8 GB
EGAF00005466702 cram 5.4 GB
EGAF00005466703 cram 5.5 GB
EGAF00005466704 cram 5.7 GB
EGAF00005466705 cram 4.8 GB
EGAF00005466706 cram 5.9 GB
EGAF00005466707 cram 5.1 GB
EGAF00005466708 cram 4.4 GB
EGAF00005466709 cram 5.7 GB
EGAF00005466710 cram 5.5 GB
EGAF00005466711 cram 4.7 GB
EGAF00005466712 cram 4.9 GB
EGAF00005466713 cram 4.4 GB
EGAF00005466714 cram 5.8 GB
EGAF00005466715 cram 5.1 GB
EGAF00005466716 cram 5.2 GB
EGAF00005466717 cram 5.6 GB
EGAF00005466718 cram 5.7 GB
EGAF00005466719 cram 6.0 GB
EGAF00005466720 cram 5.3 GB
EGAF00005466721 cram 4.6 GB
EGAF00005466722 cram 5.3 GB
EGAF00005466723 cram 5.9 GB
EGAF00005466724 cram 4.5 GB
EGAF00005466725 cram 4.9 GB
EGAF00005466726 cram 5.7 GB
EGAF00005466727 cram 5.7 GB
EGAF00005466728 cram 4.9 GB
EGAF00005466729 cram 6.2 GB
EGAF00005466730 cram 6.0 GB
EGAF00005466731 cram 5.0 GB
EGAF00005466732 cram 4.9 GB
EGAF00005466733 cram 4.8 GB
EGAF00005466734 cram 4.9 GB
EGAF00005466735 cram 4.5 GB
EGAF00005466736 cram 5.6 GB
EGAF00005466737 cram 5.0 GB
EGAF00005466738 cram 5.4 GB
EGAF00005466739 cram 4.8 GB
EGAF00005466740 cram 5.5 GB
EGAF00005466741 cram 5.1 GB
EGAF00005466742 cram 5.6 GB
EGAF00005466743 cram 5.2 GB
EGAF00005466744 cram 5.7 GB
EGAF00005466745 cram 5.5 GB
EGAF00005466746 cram 4.8 GB
EGAF00005466747 cram 5.2 GB
EGAF00005466748 cram 5.6 GB
EGAF00005466749 cram 4.4 GB
EGAF00005466750 cram 6.4 GB
EGAF00005466751 cram 5.3 GB
EGAF00005466752 cram 12.3 GB
EGAF00005466753 cram 7.4 GB
EGAF00005466754 cram 11.4 GB
EGAF00005466755 cram 9.6 GB
EGAF00005466756 cram 11.6 GB
EGAF00005466757 cram 11.0 GB
EGAF00005466758 cram 11.7 GB
EGAF00005466759 cram 10.6 GB
EGAF00005466760 cram 10.0 GB
EGAF00005466761 cram 13.1 GB
EGAF00005466762 cram 9.5 GB
EGAF00005466763 cram 10.5 GB
EGAF00005466764 cram 11.4 GB
EGAF00005466765 cram 12.4 GB
EGAF00005466766 cram 7.5 GB
EGAF00005466767 cram 11.5 GB
EGAF00005466768 cram 9.7 GB
EGAF00005466769 cram 11.7 GB
EGAF00005466770 cram 11.1 GB
EGAF00005466771 cram 11.8 GB
EGAF00005466772 cram 10.8 GB
EGAF00005466773 cram 10.2 GB
EGAF00005466774 cram 13.2 GB
EGAF00005466775 cram 9.6 GB
EGAF00005466776 cram 10.7 GB
EGAF00005466777 cram 11.6 GB
EGAF00005466778 cram 7.3 GB
EGAF00005466779 cram 9.0 GB
EGAF00005466780 cram 8.8 GB
EGAF00005466781 cram 10.3 GB
EGAF00005466782 cram 19.8 GB
EGAF00005466783 cram 8.8 GB
EGAF00005466784 cram 14.9 GB
EGAF00005466785 cram 9.4 GB
EGAF00005466786 cram 7.5 GB
EGAF00005466787 cram 6.9 GB
EGAF00005466788 cram 14.2 GB
EGAF00005466789 cram 7.5 GB
EGAF00005466790 cram 6.5 GB
EGAF00005466791 cram 7.6 GB
EGAF00005466792 cram 5.7 GB
EGAF00005466793 cram 7.3 GB
EGAF00005466794 cram 9.0 GB
EGAF00005466795 cram 8.7 GB
EGAF00005466796 cram 10.2 GB
EGAF00005466797 cram 19.7 GB
EGAF00005466798 cram 8.9 GB
EGAF00005466799 cram 14.8 GB
EGAF00005466800 cram 9.3 GB
EGAF00005466801 cram 7.5 GB
EGAF00005466802 cram 6.8 GB
EGAF00005466803 cram 14.2 GB
EGAF00005466804 cram 7.5 GB
EGAF00005466805 cram 6.5 GB
EGAF00005466806 cram 7.6 GB
EGAF00005466807 cram 5.7 GB
EGAF00005466808 cram 7.2 GB
EGAF00005466809 cram 8.9 GB
EGAF00005466810 cram 8.7 GB
EGAF00005466811 cram 10.2 GB
EGAF00005466812 cram 19.2 GB
EGAF00005466813 cram 8.8 GB
EGAF00005466814 cram 14.6 GB
EGAF00005466815 cram 9.2 GB
EGAF00005466816 cram 7.5 GB
EGAF00005466817 cram 6.7 GB
EGAF00005466818 cram 14.1 GB
EGAF00005466819 cram 7.4 GB
EGAF00005466820 cram 6.5 GB
EGAF00005466821 cram 7.4 GB
EGAF00005466822 cram 5.6 GB
EGAF00005466823 cram 4.6 GB
EGAF00005466824 cram 4.5 GB
EGAF00005466825 cram 4.6 GB
EGAF00005466826 cram 5.0 GB
EGAF00005466827 cram 4.3 GB
EGAF00005466828 cram 5.0 GB
EGAF00005466829 cram 4.1 GB
EGAF00005466830 cram 5.0 GB
EGAF00005466831 cram 3.9 GB
EGAF00005466832 cram 5.4 GB
EGAF00005466833 cram 4.0 GB
EGAF00005466834 cram 5.9 GB
EGAF00005466835 cram 5.0 GB
EGAF00005466836 cram 3.7 GB
EGAF00005466837 cram 4.7 GB
EGAF00005466838 cram 4.7 GB
EGAF00005466839 cram 5.3 GB
EGAF00005466840 cram 4.1 GB
EGAF00005466841 cram 3.8 GB
EGAF00005466842 cram 4.9 GB
EGAF00005466843 cram 3.6 GB
EGAF00005466844 cram 4.5 GB
EGAF00005466845 cram 5.2 GB
EGAF00005466846 cram 4.0 GB
EGAF00005466847 cram 4.3 GB
EGAF00005466848 cram 4.6 GB
EGAF00005466849 cram 5.7 GB
EGAF00005466850 cram 4.1 GB
EGAF00005466851 cram 4.3 GB
EGAF00005466852 cram 5.4 GB
EGAF00005466853 cram 5.4 GB
EGAF00005466854 cram 5.6 GB
EGAF00005466855 cram 5.2 GB
EGAF00005466856 cram 5.0 GB
EGAF00005466857 cram 4.4 GB
EGAF00005466858 cram 4.8 GB
EGAF00005466859 cram 6.0 GB
EGAF00005466860 cram 5.1 GB
EGAF00005466861 cram 5.3 GB
EGAF00005466862 cram 4.5 GB
EGAF00005466863 cram 4.3 GB
EGAF00005466864 cram 4.6 GB
EGAF00005466865 cram 5.6 GB
EGAF00005466866 cram 4.2 GB
EGAF00005466867 cram 5.3 GB
EGAF00005466868 cram 5.2 GB
EGAF00005466869 cram 6.2 GB
EGAF00005466870 cram 5.3 GB
EGAF00005466871 cram 5.1 GB
EGAF00005466872 cram 6.7 GB
EGAF00005466873 cram 5.8 GB
EGAF00005466874 cram 4.8 GB
EGAF00005466875 cram 4.5 GB
EGAF00005466876 cram 6.0 GB
EGAF00005466877 cram 4.9 GB
EGAF00005466878 cram 5.4 GB
EGAF00005466879 cram 5.2 GB
EGAF00005466880 cram 5.4 GB
EGAF00005466881 cram 22.9 GB
EGAF00005466882 cram 20.5 GB
EGAF00005466883 cram 19.8 GB
EGAF00005466884 cram 17.8 GB
EGAF00005466885 cram 19.3 GB
EGAF00005466886 cram 21.9 GB
EGAF00005466887 cram 20.0 GB
EGAF00005466888 cram 21.8 GB
EGAF00005466889 cram 17.8 GB
EGAF00005466890 cram 18.1 GB
EGAF00005466891 cram 18.6 GB
EGAF00005466892 cram 22.6 GB
EGAF00005466893 cram 16.9 GB
EGAF00005466894 cram 20.8 GB
EGAF00005466895 cram 21.3 GB
EGAF00005466896 cram 23.9 GB
EGAF00005466897 cram 21.1 GB
EGAF00005466898 cram 20.4 GB
EGAF00005466899 cram 25.3 GB
EGAF00005466900 cram 22.9 GB
EGAF00005466901 cram 19.7 GB
EGAF00005466902 cram 18.9 GB
EGAF00005466903 cram 23.1 GB
EGAF00005466904 cram 19.5 GB
EGAF00005466905 cram 20.9 GB
EGAF00005466906 cram 20.0 GB
EGAF00005466907 cram 21.9 GB
413 Files (4.0 TB)