title: Mutations in STK11 gene in Czech Peutz-Jeghers patients.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS.
  
  
  METHODS
  We examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of STK11 gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of large exonic deletions or duplications of STK11 gene.
  
  
  RESULTS
  We found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far.
  
  
  CONCLUSIONS
  Our results showed that a germline mutation of STK11 gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of STK11 gene.
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Medical School, University Hospital Motol, Prague, Czech Republic. pevas78@hotmail.com
authors.forename: Peter
authors.initials: P
authors.lastname: Vasovcák
authors.forename: Alena
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: Jan
authors.initials: J
authors.lastname: Roubalík
authors.forename: Anna
authors.initials: A
authors.lastname: Krepelová
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018153:Czech Republic; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases