FUNCTIONAL ASSAY TO INVESTIGATE UNCLASSIFIED SEQUENCE VARIANTS OF MISMATCH REPAIR GENES

摘要

The present invention relates to methods of conducting in vitro functional mismatch repair assays, in order to detect whether a mismatch repair gene from a test subject, is incapable of functioning, when the mismatch repair gene comprises a mutation. Such assays are of use in detecting whether or not a subject may be predisposed or have an increased risk of developing cancer, such as hereditary nonpolyposis colorectal cancer (HNPCC).