pone.0259185.s007.tif (1.98 MB)
Variant c.1303delA in the gene ACVR2A.
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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 AretzAs an example, the 1 bp deletion c.1303delA in ACVR2A within a mononucleotide repeat in polyp 1275.1–3 is depicted (Screenshot of the Integrative Genomics Viewer, not all reads are shown).
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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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