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

Masanobu Takahashi, Masato Sakayori, Shin Takahashi, Taku Kato, Mitsuji Kaji, Masanori Kawahara, Takao Suzuki, Satoshi Kato, Shunsuke Kato, Hiroyuki Shibata, Yasuko Murakawa, Takashi Yoshioka, Chikashi Ishioka

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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 (∼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.

Original languageEnglish
Pages (from-to)1210-1214
Number of pages5
JournalJournal of gastroenterology
Volume39
Issue number12
DOIs
Publication statusPublished - 2004 Dec 1

Keywords

  • Gastric cancer
  • Germline mutation
  • Immunohistochemistry
  • LKB1 gene
  • Peutz-Jeghers syndrome

ASJC Scopus subject areas

  • Gastroenterology

Fingerprint Dive into the research topics of 'A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer'. Together they form a unique fingerprint.

Cite this