2004
DOI: 10.1007/s00535-004-1474-y
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A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer

Abstract: The gene responsible for Peutz-Jeghers syndrome (PJS), LKB1 (also called STK11) was mapped to chromosome 19p13.3 and was found to encode a putative serine/threonine protein kinase, LKB1. As only a limited number (approximately 100) of germline mutations of the gene have been reported, and because the protein function is still unclear, information about LKB1 mutations and their expression should be accumulated to understand the phenotype-genotype correlation of this disease. Here we report a patient with sporad… Show more

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Cited by 21 publications
(13 citation statements)
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“…It would be particularly interesting to find out if there is a correlation between the genotype and phenotype in relation to the development of gastric cancer. There have been only two reports dealing with gastric cancer in PJS patients and mutational analysis of STK11 gene so far [ 24 , 43 ]. Shinmura et al described two PJS females (sisters) with gastric cancer in whom a STK11 germline mutation (c.890delG) was identified [ 24 ].…”
Section: Resultsmentioning
confidence: 99%
“…It would be particularly interesting to find out if there is a correlation between the genotype and phenotype in relation to the development of gastric cancer. There have been only two reports dealing with gastric cancer in PJS patients and mutational analysis of STK11 gene so far [ 24 , 43 ]. Shinmura et al described two PJS females (sisters) with gastric cancer in whom a STK11 germline mutation (c.890delG) was identified [ 24 ].…”
Section: Resultsmentioning
confidence: 99%
“…PJS is a rare autosomal dominant inherited condition, characterized by hamartomatous gastrointestinal polyposis, and melanin spots on the lips and buccal mucosa (134). Germline mutation of the LKB1 gene, which encodes a serine/threonine kinase that acts as a tumor suppressor, is a cause of PJS.…”
Section: Genetic Risk Factorsmentioning
confidence: 99%
“…With these safety concerns, there is an increasing attention to find natural sources to be used in food industry that can improve food quality, enhance the capacity of scavenging excess free radicals, and provide additional health benefits to consumers [3]. Probiotics are beneficial in animal health through suppressing the oxidative stress, and are applied as feed supplements to improve performance and antioxidant capacity of animals [4,5]. Among probiotics, Bacillus subtilis is well known for its resistance to harsh environments and beneficial role in improving the meat quality and antioxidant capacity of animals [6,7].…”
Section: Introductionmentioning
confidence: 99%