Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes

• Published in: Scandinavian journal of gastroenterology Vol. 53; no. 1; p. 31
• Main Authors: Ponz de Leon, Maurizio, Pedroni, Monica, Pezzi, Annalisa, Sulce, Blerta, Roncucci, Luca, Domati, Federica, Rossi, Giuseppina, Reggiani Bonetti, Luca
• Format: Journal Article
• Language: English
• Published: England 02.01.2018
• Subjects: Adenomatous Polyps - genetics; Adult; Aged; Colonic Polyps - pathology; Colorectal Neoplasms - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; DNA Mismatch Repair - genetics; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Heterozygote; Humans; Logistic Models; Male; Middle Aged; MutL Protein Homolog 1 - genetics; MutS Homolog 2 Protein - genetics; Young Adult; MSH6; MSH2; tumour; cancer; polyp; Adenoma; MLH1

Mutation carriers (Mut+) in DNA mismatch repair genes are predisposed to cancer of various organs and to adenomatous polyps; however, they may remain asymptomatic and cancer or polyp-free for several years. We purposed to analyse the clinical follow-up of individuals carrying constitutional mutation...