PJS is caused by a mutation in the LKB1 (also known as STK11) gene, a serine threonine kinase, which has been mapped to chromosome 19p13.3 and is thought to be a tumor-suppressor gene. LKB1 is a multifunctional kinase, which has been found to play a role in chromatin remodeling, cell cycle arrest, Wnt signaling, cell polarity, and energy metabolism. Mutations of this gene may interfere with its function as a tumor suppressor, but the signaling mechanisms that lead to PJS-related malignancies are not yet well understood (9).
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