PubMed · 1996 · 165 citations · 55 references
Life SciencesGeneticsOncologyCancer GeneticsDna RepairNeoplasiaCancer Genomic InstabilityColorectal CancerGastrointestinal NeoplasmsMalignant NeoplasmsMicrosatellite InstabilitySpontaneous Animal Cancer ModelsApc InactivationDna Mismatch Repair DeficiencyHereditary Colorectal Cancer SyndromesHereditary Nonpolyposis Colorectal CancerMicrosatellite Instability In Colorectal CancerMicrosatellite Instability In Hereditary Cancer SyndromesMismatch Repair GenesTumor Susceptibility Genes
Hereditary nonpolyposis colorectal cancer is associated with defects in DNA mismatch repair. Here, we characterize tumor susceptibility of the recently described Msh2-deficient mouse model. Within the first year of observation, all homozygous mice succumbed to disease, with lymphomas observed in at least 80% of the cases. The majority (70%) of animals 6 months or older developed intestinal neoplasms associated with APC inactivation. Microsatellite instability was more common in carcinomas than in adenomas, but uncommon in normal tissues. Some animals (7%) developed a variety of skin neoplasms analogous to the Muir-Torre syndrome. Msh2-/- mice implicate a direct role for mismatch repair in several neoplasms with striking phenotypic similarities to humans.
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