Article
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clinical genetics - 1 Jul 2023
Jelsig Anne Marie, van Overeem Hansen Thomas, Gede Lene Bjerring, Qvist Niels, Christensen Lise-Lotte, Lautrup Charlotte Kvist, Frederiksen Jane Hübertz, Sunde Lone, Ousager Lilian Bomme, Ljungmann Ken, Bertelsen Birgitte, Karstensen John Gásdal
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic...
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