pone.0259185.s005.tif (1.98 MB)
Indel pattern in MSH3-deficient adenomas and sporadic adenomas (HGCA).
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posted on 2021-11-29, 18:50 authored by Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K. Sommer, Axel M. Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R. Schweiger, Martin Peifer, Isabel Spier, Stefan AretzThe number of inserted or deleted nucleotides is shown on the x-axis (e.g. Indel-1 = mononucleotides, Indel-2 = dinucleotides); the absolute numbers of corresponding indel variants in all MSH3-deficient adenomas and HGCA (data based on Lee et al., 2017) are shown on the y-axis. The proportion of indels lying in repetitive sequences is displayed in light blue and light red (Repeat).
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whole exome sequencingrepetitive sequence contextmatched normal tissuefamilial adenomatous polyposis>- related tumourigenesis>- driven pathway>- associated polyposis21 – 42early colorectal carcinogenesischaracterise mutational signaturessomatic genetic variationsingle nucleotide variantsdiv >< pcolorectal adenomas causedcandidate driver genescolorectal adenomasdriver genessomatic variantspathogenic somaticsporadic adenomasnine adenomasdeficient adenomasvast majorityvariant profilingtwo familiesspecific functionsmall variantssmall insertionssignificantly higherone adenomamutational patternmismatch repairdata suggestcomprehensively analysedbase pairarid apc acvr2a 0001 ).
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