T. Yoshitaka et al., MUTATIONS OF E2F-4 TRINUCLEOTIDE REPEATS IN COLORECTAL-CANCER WITH MICROSATELLITE INSTABILITY, Biochemical and biophysical research communications, 227(2), 1996, pp. 553-557
Genetic instability at microsatellites in some colorectal cancer (CRC)
have been linked to the defects of human mismatch repair genes, but t
he targets of these defective genes have been largely unknown. We scre
ened CRC specimens for alteration of E2F-4 gene by analyzing both cDNA
and genomic sequences along with replication error (RER(+)) phenotype
. Two out of 20 sporadic CRC patients showed RER(+) phenotype. We foun
d tumor-specific copy number alteration in 13 consecutive trinucleotid
e (GAG) repeats within the coding exon of E2F-4 exclusively in these 2
specimens. Thus, E2F-4 may be a clue of the target gene of defective
repair genes in CRC with genetic instability in addition to the TGF-be
ta type II receptor gene. (C) 1996 Academic Press, Inc.