Germline mutations in the STK11/LKB1 gene cause Peutz-Jeghers syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous pigmentation, hamartomatous gastrointestinal polyposis, and an increased risk for various malignancies. We here report the results of the first Italian collaborative study on Peutz-Jeghers syndrome.
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study / Resta, Nicoletta; Pierannunzio, Daniela; Lenato, Gennaro Mariano; Stella, Alessandro; Capocaccia, Riccardo; Bagnulo, Rosanna; Lastella, Patrizia; Susca, Francesco Claudio; Bozzao, Cristina; Loconte, Daria Carmela; Sabbà, Carlo; Urso, Emanuele; Sala, Paola; Fornasarig, Mara; Grammatico, Paola; Piepoli, Ada; Host, Cristina; Turchetti, Daniela; Viel, Alessandra; Memo, Luigi; Giunti, Laura; Stigliano, Vittoria; Varesco, Liliana; Bertario, Lucio; Genuardi, Maurizio; Lucci Cordisco, Emanuela; Tibiletti, Maria Grazia; Di Gregorio, Carmela; Andriulli, Angelo; PONZ DE LEON, Maurizio. - In: DIGESTIVE AND LIVER DISEASE. - ISSN 1590-8658. - ELETTRONICO. - 45:(2013), pp. 606-611. [10.1016/j.dld.2012.12.018]
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study
PONZ DE LEON, Maurizio
2013
Abstract
Germline mutations in the STK11/LKB1 gene cause Peutz-Jeghers syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous pigmentation, hamartomatous gastrointestinal polyposis, and an increased risk for various malignancies. We here report the results of the first Italian collaborative study on Peutz-Jeghers syndrome.
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