title: Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.
abstract: BACKGROUND
  A decrease in the age at cancer onset and increase in cancer incidence in successive generations in Li-Fraumeni syndrome (LFS) families with germline TP53 mutations have been previously described. In the current study a possible relation was analyzed between telomere length and cancer onset in TP53 mutation carriers.
  
  
  METHODS
  Telomere length was measured using real-time quantitative polymerase chain reaction (PCR) in 20 carriers of germline TP53 mutations and in 83 unrelated healthy individuals. According to the age at blood sampling, patients and controls were divided into 2 age groups, children and adults. Telomere length was correlated to TP53 mutation status and telomere shortening in patients to the age at cancer onset. A t-test and linear regression were used to analyze the data.
  
  
  RESULTS
  Compared with healthy controls, telomere length was significantly shorter both in the child (P = .001) and adult (P = .034) germline T53 mutation carriers. Although a statistically significant correlation between telomere shortening and the age at cancer onset was not observed, there was a trend of shorter telomeres in mutation carriers affected in childhood compared with those affected later in life. Neither cancer therapy nor sex differences were likely to affect the results.
  
  
  CONCLUSIONS
  The findings suggest a possible link between the carriership of a germline TP53 mutation, telomere length, predisposition to early-onset cancer, and anticipation in LFS.
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic. marie.trkova@lfmotol.cuni.cz
authors.forename: Marie
authors.initials: M
authors.lastname: Trkova
authors.forename: Kamila
authors.initials: K
authors.lastname: Prochazkova
authors.forename: Vera
authors.initials: V
authors.lastname: Krutilkova
authors.forename: David
authors.initials: D
authors.lastname: Sumerauer
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sedlacek
mesh_terms: D000328:Adult; D017668:Age of Onset; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000097:blood / Q000235:genetics*; D008297:Male; D009369:Neoplasms / Q000097:blood / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016615:Telomere / Q000502:physiology*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D016159:Tumor Suppressor Protein p53