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The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1

Krüger, Stefan ; Engel, Christoph ; Bier, Andrea ; Silber, Ann-Sophie ; Görgens, Heike ; Mangold, Elisabeth ; Pagenstecher, Constanze ; Holinski-Feder, Elke ; von Knebel Doeberitz, Magnus ; Royer-Pokora, Brigitte ; Dechant, Stefan ; Pox, Christian ; Rahner, Nils ; Müller, Annegret ; Schackert, Hans K.



Zusammenfassung

p53 and the prostate-cancer-susceptibility gene RNASEL are tumour suppressor genes involved in apoptosis. We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients. To assess the combined effect of both variants, we screened 246 unrelated Lynch ...

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