title: Familial hepatoblastoma and APC gene mutations: renewed call for molecular research.
abstract: Recent findings have increased our understanding of the molecular mechanisms involved in the pathogenesis of hepatoblastoma and their relationship to the molecular pathology of familial adenomatous polyposis (FAP). Here, we describe hepatoblastoma in siblings who share a gene mutation for FAP inherited from their father. This observation confirms the link between these diseases and has implications for future molecular research. We also raise the question; should other members of 'at-risk' families be screened following a new diagnosis of either hepatoblastoma or FAP?
authors.affiliation: Liver Unit, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: D
authors.initials: D
authors.lastname: Thomas
authors.forename: J
authors.initials: J
authors.lastname: Pritchard
authors.forename: R
authors.initials: R
authors.lastname: Davidson
authors.forename: P
authors.initials: P
authors.lastname: McKiernan
authors.forename: R G
authors.initials: RG
authors.lastname: Grundy
authors.forename: J
authors.initials: J
authors.lastname: de Ville de Goyet
mesh_terms: D035843:Biomedical Research; D018389:Codon, Nonsense / Q000235:genetics*; D017491:Genes, APC; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense