Ontology highlight
ABSTRACT:
SUBMITTER: Coolbaugh-Murphy MI
PROVIDER: S-EPMC3544178 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Coolbaugh-Murphy Mary I MI Xu Jing-Ping JP Ramagli Louis S LS Ramagli Brian C BC Brown Barry W BW Lynch Patrick M PM Hamilton Stanley R SR Frazier Marsha L ML Siciliano Michael J MJ
Human mutation 20100301 3
Most hereditary nonpolyposis colorectal cancer (HNPCC) patients inherit a defective allele of a mismatch repair (MMR) gene, usually MLH1 or MSH2, resulting in high levels of microsatellite instability (MSI-H) in the tumors. Presence of MSI in the normal tissues of mutation carriers has been controversial. Here we directly compare MSI in the peripheral blood leukocyte (PBL) DNA of seven HNPCC patients carrying different types of pathogenic MMR mutations in MLH1 and MSH2 genes with the PBL DNA of ...[more]