title: Disease pattern in Danish patients with Peutz-Jeghers syndrome.
abstract: OBJECTIVE
  In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11.
  
  
  METHODS
  Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information.
  
  
  RESULTS
  We identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients.
  
  
  CONCLUSIONS
  This is the first comprehensive study of patients with Peutz-Jeghers syndrome in the Danish population identified from nationwide registers and databases. We have demonstrated that the expressivity of Peutz-Jeghers syndrome varies greatly among the patients, even within the same families, underlining the great phenotypic spectrum. Patients with PJS should be offered surveillance from childhood in order to prevent morbidity and reduce mortality.
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark. anne.marie.jelsig@rsyd.dk.|Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 3, 5000, Odense, Denmark. anne.marie.jelsig@rsyd.dk.
authors.forename: A M
authors.initials: AM
authors.lastname: Jelsig
authors.affiliation: Department of Surgery A, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Qvist
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21 C, 8200, Aarhus, Denmark.
authors.forename: L
authors.initials: L
authors.lastname: Sunde
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark.|Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 3, 5000, Odense, Denmark.
authors.forename: K
authors.initials: K
authors.lastname: Brusgaard
authors.affiliation: Center for Genomic Medicine, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Tvo
authors.initials: T
authors.lastname: Hansen
authors.affiliation: Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgaardsvej 21 C, 8200, Aarhus, Denmark.
authors.forename: F P
authors.initials: FP
authors.lastname: Wikman
authors.affiliation: Department of Surgery, Hvidovre Hospital, Kettegårds Alle 30, 2650, Hvidovre, Denmark.
authors.forename: C B
authors.initials: CB
authors.lastname: Nielsen
authors.affiliation: Department of Clinical Genetics, Aalborg University Hospital, Ladegaardsgade 5, 9000, Aalborg, Denmark.
authors.forename: I K
authors.initials: IK
authors.lastname: Nielsen
authors.affiliation: Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: A M
authors.initials: AM
authors.lastname: Gerdes
authors.affiliation: Department of Clinical Genetics, Vejle Hospital, Lillebaelt Hospital, Kabbeltoft 25, 7100, Vejle, Denmark.|Institute of Regional Health Research, University of Southern Denmark, Winsløwparken 19, 3, 5000, Odense, Denmark.
authors.forename: A
authors.initials: A
authors.lastname: Bojesen
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark.|Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 3, 5000, Odense, Denmark.
authors.forename: L B
authors.initials: LB
authors.lastname: Ousager
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002423:Cause of Death; D003718:Denmark / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000473:pathology; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000473:pathology*; D011127:Polyps / Q000473:pathology; D011159:Population Surveillance; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D055815:Young Adult
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases
keywords: Hereditary cancer; Mucocutaneous pigmentations; Peutz-Jeghers syndrome; Polyposis; STK11