Mutational signatures of DNA mismatch repair deficiency in C. elegans and human cancers

• Published in: Genome research Vol. 28; no. 5; pp. 666 - 675
• Main Authors: Meier, Bettina, Volkova, Nadezda V., Hong, Ye, Schofield, Pieta, Campbell, Peter J., Gerstung, Moritz, Gartner, Anton
• Format: Journal Article
• Language: English
• Published: United States Cold Spring Harbor Laboratory Press 01.05.2018
• Subjects: Adenocarcinoma - genetics; Adenocarcinoma - metabolism; Animals; Base Sequence; Caenorhabditis elegans - genetics; Caenorhabditis elegans - metabolism; Caenorhabditis elegans Proteins - genetics; Caenorhabditis elegans Proteins - metabolism; Colorectal Neoplasms - genetics; CpG islands; Cytosine; Deoxyribonucleic acid; DNA; DNA methylation; DNA Mismatch Repair; DNA Mutational Analysis - methods; DNA Polymerase II - deficiency; DNA Polymerase II - genetics; DNA repair; Genomes; Humans; Mismatch repair; Mismatch Repair Endonuclease PMS2 - deficiency; Mismatch Repair Endonuclease PMS2 - genetics; Mutation; MutL Protein Homolog 1 - deficiency; MutL Protein Homolog 1 - genetics; Poly-ADP-Ribose Binding Proteins - deficiency; Poly-ADP-Ribose Binding Proteins - genetics; Stomach Neoplasms - genetics; Stomach Neoplasms - metabolism; Tumors; Worms

Throughout their lifetime, cells are subject to extrinsic and intrinsic mutational processes leaving behind characteristic signatures in the genome. DNA mismatch repair (MMR) deficiency leads to hypermutation and is found in different cancer types. Although it is possible to associate mutational sig...