Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.

Journal article

Authors: Lipton, L; Sieber, O; Thomas, H; Hodgson, S; Tomlinson, I

• Journal: Journal of medical genetics
• Volume: 40
• Issue: 4
• Pages: e35
• Publication date: 2003-04-01
• DOI: 10.1136/jmg.40.4.e35
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Wnt Proteins; Adolescent; Smad4 Protein; Zebrafish Proteins; Loss of Heterozygosity; Aged; Proto-Oncogene Proteins; Adenoma; Humans; Bone Morphogenetic Protein Receptors, Type I; N-Glycosyl Hydrolases; DNA, Neoplasm; Receptors, Growth Factor; DNA Glycosylases; Middle Aged; DNA Mutational Analysis; Germ-Line Mutation; Colorectal Neoplasms; Trans-Activators; Transforming Growth Factor beta; Male; DNA-Binding Proteins; Female; Adult; Neoplasms, Multiple Primary; Polymorphism, Single-Stranded Conformational; Protein-Serine-Threonine Kinases; Activin Receptors, Type I; Signal Transduction