Article
Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.
Human molecular genetics - 15 Jan 2005
Alazzouzi Hafid, Domingo Enric, González Sara, Blanco Ignacio, Armengol Manel, Espín Eloi, Plaja Alberto, Schwartz Simó, Capella Gabriel, Schwartz Simó
Abstract excerpt
Microsatellite instability (MSI) characterizes tumors arising in patients with hereditary non-polyposis colorectal cancer (HNPCC) syndrome. HNPCC is a hereditary autosomal dominant disease caused by germline mutations in genes from the DNA (MMR) mismatch repair system. In these tumors, the loss of MMR compromises the genome integrity, allowing the progressive accumulation of mutations and the establishment of a...
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