Article
STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.
Human mutation - 1 Jul 2014
Wang Zhiqing, Wu Baoping, Mosig Rebecca A, Chen Yulan, Ye Fei, Zhang Yali, Gong Wei, Gong Lanbo, Huang Fei, Wang Xinying, Nie Biao, Zheng Haoxuan, Cui Miao, Wang Yadong, Wang Juan, Chen Chudi, Polydorides Alexandros D, Zhang David Y, Martignetti John A, Jiang Bo
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder resulting from mutations in serine/threonine kinase 11 (STK11) and characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation, and an increased risk for specific cancers. Little is known about the genetic implications of specific STK11 mutations with regard to their role in dysplastic and malignant transformation of GI polyps....
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