pone.0259185.s001.tif (676.76 kB)
Pedigrees of the two independent families with Bilallelic Germline MSH3-Mutations.
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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 AretzArrows indicate patients included in the present investigation. Identifiers for affected individuals are shown above the respective symbols. The number on the upper right side of a symbol indicates age at death, or in living persons, the age at last contact. Phenotype information is displayed on the bottom left. The numbers following a disease represent the age at first diagnosis. ad. = adenomas. CRC = colorectal carcinoma. duod. = duodenal GC = gastric cancer. Polyposis = multiple colorectal adenomatous polyps. yrs = years.
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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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