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Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

✍ Scribed by Hidewaki Nakagawa; Kumiko Koyama; Yasuo Miyoshi; Hiroshi Ando; Shozo Baba; Masahiro Watatani; Masayuki Yasutomi; Nariaki Matsuura; Morito Monden; Y. Nakamura


Book ID
118297437
Publisher
Springer
Year
1998
Tongue
English
Weight
237 KB
Volume
103
Category
Article
ISSN
0340-6717

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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

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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