Benutzerspezifische Werkzeuge

Translational Research

Age of CRC onset varies widely in 377 HNPCC patients
with pathogenic MSH2, MLH1 or MSH6 mutation

Diagramm2

Can we identify genetic variants that modify age of disease
onset in carriers of pathogenic MMR gene mutations?


Age of CRC onset in carriers of pathogenic MSH2 or MLH1 versus MSH6 mutations 

  • MMR genes:
    MSH2/MLH1 < MSH6 < PMS2
  • Modifying genes:
    p53, RNASEL
  • Biallelic mutations:
    MSH6, MSH2, PMS2
Linie

              

Diagramm3

  

Plaschke and the German HNPCC Consortium, JCO, 2004


Age of CRC onset in carriers of pathogenic MSH2 or MLH1 mutations
and different p53Arg72Pro genotypes

  • MMR genes:
    MSH2/MLH1 < MSH6 < PMS2
  • Modifying genes:
    p53, RNASEL
  • Biallelic mutations:
    MSH6, MSH2, PMS2
Linie

p53 Arg72Pro              

Diagramm4

  

Krüger and the German HNPCC Consortium, J Med Genet, 2005


Age of CRC onset in carriers of pathogenic MSH2 or MLH1 mutations
and different genotype combinations of p53Arg72Pro and RNASELArg462Gln

  • MMR genes:
    MSH2/MLH1 < MSH6 < PMS2
  • Modifying genes:
    p53, RNASEL
  •  Biallelic mutations:
    MSH6, MSH2, PMS2
Linie

Diagramm5

  

Krüger and the German HNPCC Consortium, Lancet Oncol, 2005
Krüger and the German HNPCC Consortium, Cancer Letters, 2007


Age of disease onset in carriers of biallelic pathogenic MSH2, MSH6 or PMS2 mutations

  • MMR genes:
    MSH2/MLH1 < MSH6 < PMS2
  • Modifying genes:
    p53, RNASEL
  •  Biallelic mutations:
    MSH6, MSH2, PMS2
Linie

Diagramm6

  

MSH2: Müller et al., Am J Med Genet, 2006
MSH6: Plaschke et al., Eur J Hum Genet, 2006
PMS2: Krüger et al, Eur J Hum Genet 2008
  


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