title: Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.
abstract: Peutz-Jeghers syndrome (PJS) is a rare cancer predisposition, which is characterized by the presence of hamartomatous polyposis and mucocutaneous pigmentation. A significant proportion of both familial and sporadic forms of this disorder are associated with mutations in the STK11 (serine/threonine kinase 11)/LKB1 gene. In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history. The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients.
authors.affiliation: Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW, Australia. rscott@doh.health.nsw.gov.au
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
authors.forename: R
authors.initials: R
authors.lastname: Crooks
authors.forename: C J
authors.initials: CJ
authors.lastname: Meldrum
authors.forename: L
authors.initials: L
authors.lastname: Thomas
authors.forename: C J A
authors.initials: CJ
authors.lastname: Smith
authors.forename: D
authors.initials: D
authors.lastname: Mowat
authors.forename: M
authors.initials: M
authors.lastname: McPhillips
authors.forename: A D
authors.initials: AD
authors.lastname: Spigelman
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D001315:Australia; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases