Background: Microsatellites are short repetitive nucleotide sequences that, through mutation, can undergo either expansion or contraction. This novel mutational mechanism known as microsatellite instability may play a role in carcinogenesis. We investigated the incidence of microsatellite instability in a series of primary breast carcinoma surgical specimens.
Methods: Using polymerase chain reaction techniques followed by polyacrylamide/urea gel electrophoresis, we analyzed 46 pairs of normal and primary breast tumor samples at seven different microsatellite loci, five of which were located on chromosome 17.
Results: Thirteen of our 46 tumors (28.2%) demonstrated microsatellite instability. Five tumors (10.8%) were unstable at two or more loci, and of those, four (8.7%) were unstable at different loci on different chromosomes. An additional five tumors demonstrated loss of heterozygosity alone when compared with their normal counterparts.
Conclusions: These findings indicate that microsatellite instability is present in primary breast cancer populations and, although the mechanism of action has yet to be elucidated, may play a role in breast carcinogenesis.