Two cases of somatic STK11 mosaicism in Danish patients with Peutz –Jeghers syndrome

We report two Danish patients withSTK11 mosaicism detected in blood when using Next-Generation Sequencing. This is only the sixth and seventh patient reported in the literature, and we compare phenotypes of the reported cases. The results indicate thatSTK11 mosaicism is more frequent than anticipated and highlight that mosaicism should be considered in patients with clinical suspicion of PJS or patients fulfilling the diagnostic criteria.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research