Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome
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چکیده
منابع مشابه
Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.
Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations b...
متن کاملMutations in the STK11 gene in Czech Peutz-Jeghers families
Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for various neoplasms. Molecular analysis could be helpful...
متن کاملNovel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management.
AIM To explore mutations in serine/threonine kinase 11 (STK11) gene in Peutz-Jeghers syndrome (PJS) with gastrointestinal (GI) hamartomatous polyps. METHODS Six Japanese PJS patients in 3 families were enrolled in this study. Each of the cases had hamartomatous polyposis in the gastrointestinal tract, including the small intestine, along with mucocutaneous hyperpigmentation. Narrow-band imagi...
متن کاملLIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1.
LKB1 is a serine/threonine kinase which is inactivated by mutation in the Peutz-Jeghers polyposis and cancer predisposition syndrome (PJS). We have identified a novel leucine-rich repeat containing protein, LIP1, that interacts with LKB1. The LIP1 gene consists of 25 exons, maps to human chromosome 2q36 and encodes a protein of 121 kDa. LIP1 appears to be a cytoplasmically located protein where...
متن کاملSTK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
P eutz-Jeghers syndrome (PJS; OMIM #175200) is an autosomal dominant disorder characterised by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms. 2 Malignancies occur both in the gastrointestinal tract and in extraintestinal sites such as the pancreas, the breast, and reproductive organs. The estimated re...
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ژورنال
عنوان ژورنال: Critical Reviews in Eukaryotic Gene Expression
سال: 2020
ISSN: 1045-4403
DOI: 10.1615/critreveukaryotgeneexpr.2020033451