pone.0259185.g001.tif (272.83 kB)
Fractions of indels and SNVs in MSH3-deficient adenomas and 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 AretzFor all somatic variants of the nine MSH3-deficient adenomas including silent variants (952 variants) and for twelve HGCA (2390 variants), the proportions of indels and SNVs were calculated. In MSH3-deficient adenomas, 24% of all variants were indels, which was significantly higher (p < 0.0001) than in HGCA where the proportion of indels was 1.3%. HGCA = high-grade colon adenoma. Indel = insertion/deletion. SNV = Single Nucleotide Variant.
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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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