pone.0259185.s006.tif (1.98 MB)
Variant features of MSH3-deficient adenomas including silent variants.
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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 AretzFor the nine MSH3-deficient adenomas, the proportion of all somatic variants, including silent variants, is shown in accordance with six functional categories. FS = frameshift. IF = inframe. Indel = insertion/deletion.
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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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