Ontology highlight
ABSTRACT:
SUBMITTER: Lim W
PROVIDER: S-EPMC2394252 | biostudies-literature | 2003 Jul
REPOSITORIES: biostudies-literature
Lim W W Hearle N N Shah B B Murday V V Hodgson S V SV Lucassen A A Eccles D D Talbot I I Neale K K Lim A G AG O'Donohue J J Donaldson A A Macdonald R C RC Young I D ID Robinson M H MH Lee P W R PW Stoodley B J BJ Tomlinson I I Alderson D D Holbrook A G AG Vyas S S Swarbrick E T ET Lewis A A M AA Phillips R K S RK Houlston R S RS
British journal of cancer 20030701 2
Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous gastrointestinal polyps and pigmented perioral lesions, PJS is associated with an increased risk of tumours at multiple sites. Follow-up information on carriers is limited and genetic heterogeneity makes counselling and management in PJS difficult. Here we report the analysis of the LKB1/STK11 locus in a series of 33 PJS families, and esti ...[more]