pone.0259185.s002.tif (1.98 MB)
Single nucleotide variant profile of 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 AretzSNVs are classified according to sequence changes. Relative proportions of sequence based variant categories (y-axis) are shown for each polyp. (A) MSH3-deficient adenomas including silent variants. (B) For comparison, HGCAs are shown, silent variants were excluded (from Lee et al., 2017, copied with permission).
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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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