Peutz-Jeghers syndrome

Show full item record

Files in this item

PDF 11-2015-PeutzJeghersID10025.pdf 132.7Kb

Pour citer ce document :
URI:  |   DOI :
Title: Peutz-Jeghers syndrome
Author: Radio, Francesca Clementina; Grammatico, Paola
Abstract: Peutz_Jeghers Syndrome (PJS, OMIM 175200) is a rare autosomal dominant disorder characterized by intestinal hamartomatous polyps, mucocutaneous melanotic pigmentation and predisposition to malignancies. The incidence rate of the disease ranges from 1 in 8,300 to 1 in 200,000 (Boardman,2002; Launonen,2005; Chae and Jeon,2014). Around 55% of affected patients show a family history of the disease. The clinical diagnosis of PJS can be confirmed by molecular genetic testing of STK11 (LKB1) in 80%-94% of affected individuals (Jenne et al.,1998; Hemminki et al.,1998).STK11 gene encodes a tumor suppressor serine/threonine-protein kinase involved in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. A genotype-phenotype correlation between STK11 germline mutations and disease manifestations (e.g., the number of polyps, pigmentation pattern, cancer risk) is been proposed (Hemminki et al.,1998; Davidson,2007). Genetic heterogeneity is suggested by several patients negative at the mutational screening of STK11 gene and multiple causative loci described to date (Alhopuro et al.,2008; Bali et al.,1995; Markie et al.,1996; Mehenni et al.,1997; Schumacher et al.,2005; Wang et al.,2014).
Subject: Peutz-Jeghers Syndrome; intestinal hamartomatous polyps; STK11; cancer prone syndrome; Kprones Section; Alleles; Cell Line, Tumor; Cell Transformation, Neoplastic/*genetics/metabolism; *Codon; Extracellular Signal-Regulated MAP Kinases/metabolism; Gene Deletion; Gene Order; *Genes, ras; Genetic Loci; Genotype; Guanosine Triphosphate/metabolism; Humans; Melanoma/*genetics/metabolism/mortality/pathology; Mice; Mitogen-Activated Protein Kinases/metabolism; *Mutation; Neoplasm Metastasis; Oncogene Proteins, Fusion/genetics/metabolism; Phosphatidylinositol 3-Kinases/metabolism; Protein Binding
Publisher: ARMGHM - Atlas Génétique des Cancers
Date: 2016

This item appears in the following Collection(s)

Show full item record

Advanced Search