A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer

J Gastroenterol. 2004 Dec;39(12):1210-4. doi: 10.1007/s00535-004-1474-y.


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 sporadic PJS with early-onset gastric cancer. We found a novel germline frameshift mutation (757-758insT) in the LKB1 gene 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Disease Progression
  • Female
  • Frameshift Mutation*
  • Germ-Line Mutation*
  • Humans
  • Peutz-Jeghers Syndrome / complications
  • Peutz-Jeghers Syndrome / genetics*
  • Protein-Serine-Threonine Kinases / genetics*
  • Stomach Neoplasms / complications
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology


  • STK11 protein, human
  • Protein-Serine-Threonine Kinases