Ballhausen, Wolfgang G. and Guenther, Klaus (2003) Genetic screening for Peutz-Jeghers syndrome. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 3 (4). pp. 471-479. ISSN 1473-7159, 1744-8352
Full text not available from this repository. (Request a copy)Abstract
Peutz-Jeghers syndrome is clinically characterized by mucocutaneous melanocytic pigmentation, intestinal hamartomatous polyposis and a significantly increased risk of developing cancer. Mutations in the serine/threonine kinase (STK-)11 gene, also designated LKB1, are found in approximately 60% of cases of Peutz-Jeghers syndrome. There is evidence that genetic heterogeneity exists and gene(s) that have not yet been discovered may be responsible for the disease. Since most mutations in Peutz-Jeghers syndrome are null alleles and are dispersed throughout the entire STK11/LKB1 gene, the mutation screening strategies that combine approaches at both the DNA and RNA level are favored. Based upon the identification of novel mutational mechanisms, the impact of RNA-based screening for germinal STV11/LKB1 mutations in Peutz-Jeghers syndrome are specifically discussed.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SERINE/THREONINE PROTEIN-KINASE; SERINE-THREONINE KINASE; LKB1 TUMOR-SUPPRESSOR; MESSENGER-RNA DECAY; GERMLINE MUTATIONS; COLORECTAL-CANCER; IN-VIVO; POLYPOSIS; LKB1/STK11; FAMILIES; gene regulation; germline; heterogeneity; intestinal hamartomatous polyposis; mutation; nonsense-mediated mRNA decay; Peutz-Jeghers syndrome; protein in vitro synthesis; screening; STX11; tumor predisposing syndrome |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Chirurgie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 08 Jul 2021 05:25 |
| Last Modified: | 08 Jul 2021 05:25 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38855 |
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