Exome sequencing of the SUM-149PT cells revealed the presence of a number of possible mutations in many genes, but mutations in only two genes appear commonly in the COSMIC census. Thus, SUM-149PT cells have a TP53p.M237I mutation, and they have a mutation in BRCA1 that is not commonly associated with familial breast cancer. In addition, because of the Tandem Duplicator Phenotype exhibited by these cells, the PTEN gene was disrupted by a transection of the gene as a result of one of these duplication events. This resulted in complete loss of expression of PTEN mRNA and protein without any changes in the coding sequence for the PTEN gene. To see the data supporting this observation, check out the proteomics data here. Thus, SUM-149 cells have “wild-type” PTEN but are still PTEN null, and this is the primary anti-oncogenic mechanism for the activation of constitutive PI3’K/AKT signaling in these cells.
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