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

J Med Genet. 2003 Apr;40(4):e35. doi: 10.1136/jmg.40.4.e35.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activin Receptors, Type I / genetics
  • Adenoma / genetics*
  • Adolescent
  • Adult
  • Aged
  • Bone Morphogenetic Protein Receptors, Type I
  • Colorectal Neoplasms / genetics*
  • DNA Glycosylases*
  • DNA Mutational Analysis
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Germ-Line Mutation*
  • Humans
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • N-Glycosyl Hydrolases / genetics
  • Neoplasms, Multiple Primary / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Protein Serine-Threonine Kinases*
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins / physiology
  • Receptors, Growth Factor*
  • Signal Transduction
  • Smad4 Protein
  • Trans-Activators / genetics
  • Transforming Growth Factor beta / genetics*
  • Wnt Proteins
  • Zebrafish Proteins*

Substances

  • DNA, Neoplasm
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • Receptors, Growth Factor
  • SMAD4 protein, human
  • Smad4 Protein
  • Trans-Activators
  • Transforming Growth Factor beta
  • Wnt Proteins
  • Zebrafish Proteins
  • smad4a protein, zebrafish
  • Protein Serine-Threonine Kinases
  • Activin Receptors, Type I
  • Bone Morphogenetic Protein Receptors, Type I
  • DNA Glycosylases
  • N-Glycosyl Hydrolases
  • mutY adenine glycosylase