Tumor PTPRT allele-specific expression
A digital PCR was then performed in order to check the allele-specific
expression of wild-type and mutant PTPRT in the tumor. This assay
showed that there was expression of both alleles (wild type and mutant)
in tumor cDNA from a PTPRT mutation carrier (II:6).
Interestingly, a significant reduction in the expression of the
wild-type allele was observed in the CRC compared to the healthy colon
from the same individual (Figure 4), while no alteration in the
expression of the mutant allele could be appreciated. Unfortunately, no
results could be obtained from the breast tumor of member II:4.