No evidence for germline mutations of the LKB1/STK11 gene in familial pancreatic carcinoma
Abstract
Familial pancreatic cancer (FPC) (approximately 3% of all cases) has not been linked to defects in any specific gene. Germline inactivation of the gene LKB1/STK11 have been shown to cause Peutz-Jeghers syndrome (PJS) associated with a approximately 100-fold higher risk for the development of pancreatic cancer. We have analysed 39 index patients from European FPC families for mutations of LKB1/STK11 by sequencing of their DNA. No germline mutation was found within the complete coding region. Therefore, our results indicate that LKB1/STK11 is not altered in the germline of patients with hereditary pancreatic cancer.
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- Authors
- Grützmann, R., McFaul, C., Bartsch, D. K., Sina-Frey, M., Rieder, H., Koch, R., McCarthy, E., Greenhalf, W., Neoptolemos, J. P., Saeger, H. D., & Pilarsky, C.
- Affiliations
- University Hospital Carl Gustav Carus (DE)
- University of Liverpool (GB)
- Philipps University of Marburg (DE)
- Technische Universität Dresden (DE)
- Corresponding author
- Pilarsky, Christian
- ORCID
- Venue
- Cancer Letters
- Publisher
- Elsevier BV
- Published
- 2004-10
- Volume
- 214
- Issue
- 1
- Pages
- 63-68
- ISSN
- 0304-3835 (ISSN-L)
- OpenAlex
- W2034414155
- Cited by
- 23
- References
- 40
- Citations by year
- 2022: 1 · 2021: 1 · 2020: 1 · 2018: 1 · 2014: 1 · 2013: 1 · 2012: 2
- FWCI
- 1.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cancer Letters (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Washington
- University of Liverpool
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- STK11/LKB1, germline mutations, familial pancreatic cancer, hereditary pancreatic cancer, Peutz-Jeghers syndrome, genetic susceptibility, mutation detection
- MeSH terms
- AMP-Activated Protein Kinase Kinases, Adult, Aged, Carcinoma, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Pancreatic Neoplasms, Pedigree, Protein Serine-Threonine Kinases, Germ-Line Mutation, Genetic Predisposition to Disease
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