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Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers

✍ Scribed by Gloria H. Su; Ralph H. Hruban; Ravi K. Bansal; G. Steven Bova; David J. Tang; Manu C. Shekher; Anne Marie Westerman; Mark M. Entius; Michael Goggins; Charles J. Yeo; Scott E. Kern


Book ID
117022718
Publisher
American Society for Investigative Pathology
Year
1999
Tongue
English
Weight
531 KB
Volume
154
Category
Article
ISSN
0002-9440

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Novel mutations in the LKB1/STK11 gene i
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The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p

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Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disorder with variable expression and incomplete penetrance characterized by mucocutaneous pigmentation, predisposition to hamartomatous intestinal polyposis, and various other neoplasms. It occurs in approximately 1 in 8,300 to 2

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The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected i