TY - CHAP M1 - Book, Section TI - Peutz-Jeghers Syndrome A1 - Aaltonen, Lauri A. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.335 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - The typical features of Peutz-Jeghers syndrome (PJS) are mucocutaneous melanin pigmentation and gastrointestinal polyposis.Peutz-Jeghers polyps are hamartomas characterized by a stromal tree-like pattern of smooth muscle tissue.PJS patients are predisposed to cancer. An excess of gastrointestinal as well as extraintestinal cancers has been reported in PJS families. The cancer predisposition is less focused than in many other cancer-susceptibility syndromes.The major predisposing gene is LKB1. LKB1 mutations are found in most but not all PJS patients. At present it is unclear whether more predisposing loci exist.LKB1 is a serine/threonine kinase, and it has been proposed to function as an upstream regulator of AMP-activated protein kinase. The germ-line mutations associated with tumorigenesis are usually of an inactivating nature, suggesting a role as a tumor suppressor. SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.335 Y2 - 2024/10/06 UR - ommbid.mhmedical.com/content.aspx?aid=1181414612 ER -