Article
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
PloS one - 1 Jan 2021
Perne Claudia, Peters Sophia, Cartolano Maria, Horpaopan Sukanya, Grimm Christina, Altmüller Janine, Sommer Anna K, Hillmer Axel M, Thiele Holger, Odenthal Margarete, Möslein Gabriela, Adam Ronja, Sivalingam Sugirthan, Kirfel Jutta, Schweiger Michal R, Peifer Martin, Spier Isabel, Aretz Stefan
Abstract excerpt
The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively analysed to characterise mutational signatures and identify potential driver genes and pathways of MSH3-related tumourigenesis. Three patients from two families with MSH3-associated polyposis were included. Whole exome sequencing of nine adenomas and matched...
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