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A novel germline mutation of theLKB1gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer.
- Source :
-
Journal of Gastroenterology . 2004, Vol. 39 Issue 12, p1210-1214. 5p. - Publication Year :
- 2004
-
Abstract
- The gene responsible for Peutz-Jeghers syndrome (PJS),LKB1(also calledSTK11) was mapped to chromosome 19p13.3 and was found to encode a putative serine/threonine protein kinase, LKB1. As only a limited number (~100) of germline mutations of the gene have been reported, and because the protein function is still unclear, information aboutLKB1mutations and their expression should be accumulated to understand the phenotype-genotype correlation of this disease. Here we report a patient with sporadic PJS with early-onset gastric cancer. We found a novel germline frameshift mutation (757-758insT) in theLKB1gene and a marked reduction in LKB1 protein expression in the carcinoma cells, suggesting that the loss of LKB1 function may have led to the carcinogenesis of the gastric cancer. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09441174
- Volume :
- 39
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- Journal of Gastroenterology
- Publication Type :
- Academic Journal
- Accession number :
- 15476741
- Full Text :
- https://doi.org/10.1007/s00535-004-1474-y