1. Keimbahnmutationen des RNASEL Gens bei Patienten mit sporadischem und familiärem Pankreaskarzinom
- Author
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Ralf Kress, Harald Rieder, Detlef K. Bartsch, Mercedes Sina-Frey, Emily P. Slater, Volker Fendrich, and Brunhilde Chaloupka
- Subjects
chemistry.chemical_classification ,biology ,business.industry ,Wild type ,RNASEL Gene ,urologic and male genital diseases ,medicine.disease ,Enzyme ,Germline mutation ,chemistry ,ddc: 610 ,Pancreatic cancer ,Cancer research ,biology.protein ,Medicine ,In patient ,business ,Gene ,Ribonuclease L - Abstract
RNASEL (encoding ribonuclease L) has been proposed as a candidate for the hereditary prostate cancer gene. Recent studies have shown that the RNASEL variant 1385 G→A (Arg462Gln) has three times less enzymatic activity than non-mutated RNASEL and is significant associated with prostate cancer risk. Here, for the first time, we screened for RNASEL mutations in patients with sporadic and familial pancreatic cancer. In patients with sporadic pancreatic cancer we found wild type in 22% (G/G), 66% were heterozygous (G/A) and 12% were homozygous (A/A). This was significant higher than in controls (45% G/G, 45% G/A and 10% A/A; p: 0,02). In patients with familial pancreatic cancer even 45% were heterozygous (G/A), 23% were homozygous (A/A), while in only 32% of the patients wild type was identified. These results suggest that germline mutations of RNASEL gene may be associated with sporadic and familial pancreatic cancer.
- Published
- 2004