title: Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
abstract: BACKGROUND
  Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited.
  
  
  METHODS
  We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations.
  
  
  RESULTS
  Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk.
  
  
  CONCLUSIONS
  The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Hearle
authors.forename: Valérie
authors.initials: V
authors.lastname: Schumacher
authors.forename: Fred H
authors.initials: FH
authors.lastname: Menko
authors.forename: Sylviane
authors.initials: S
authors.lastname: Olschwang
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Boardman
authors.forename: Johan J P
authors.initials: JJ
authors.lastname: Gille
authors.forename: Josbert J
authors.initials: JJ
authors.lastname: Keller
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Westerman
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Wendy
authors.initials: W
authors.lastname: Lim
authors.forename: Jill D
authors.initials: JD
authors.lastname: Trimbath
authors.forename: Francis M
authors.initials: FM
authors.lastname: Giardiello
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Gruber
authors.forename: G Johan A
authors.initials: GJ
authors.lastname: Offerhaus
authors.forename: Felix W M
authors.initials: FW
authors.lastname: de Rooij
authors.forename: J H Paul
authors.initials: JH
authors.lastname: Wilson
authors.forename: Anika
authors.initials: A
authors.lastname: Hansmann
authors.forename: Gabriela
authors.initials: G
authors.lastname: Möslein
authors.forename: Brigitte
authors.initials: B
authors.lastname: Royer-Pokora
authors.forename: Tilman
authors.initials: T
authors.lastname: Vogel
authors.forename: Robin K S
authors.initials: RK
authors.lastname: Phillips
authors.forename: Allan D
authors.initials: AD
authors.lastname: Spigelman
authors.forename: Richard S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases