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

doi:10.1007/s00535-004-1474-y

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

19 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 language	English
Pages (from-to)	1210-1214
Number of pages	5
Journal	Journal of Gastroenterology
Volume	39
Issue number	12
DOIs	https://doi.org/10.1007/s00535-004-1474-y
Publication status	Published - 2004 Dec

Keywords

Gastric cancer
Germline mutation
Immunohistochemistry
LKB1 gene
Peutz-Jeghers syndrome

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00535-004-1474-y

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Takahashi, M., Sakayori, M., Takahashi, S., Kato, T., Kaji, M., Kawahara, M., Suzuki, T., Kato, S., Kato, S., Shibata, H., Murakawa, Y., Yoshioka, T., & Ishioka, C. (2004). A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer. Journal of Gastroenterology, 39(12), 1210-1214. https://doi.org/10.1007/s00535-004-1474-y

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title = "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 (∼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.",

keywords = "Gastric cancer, Germline mutation, Immunohistochemistry, LKB1 gene, Peutz-Jeghers syndrome",

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

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doi = "10.1007/s00535-004-1474-y",

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Takahashi, M, Sakayori, M, Takahashi, S, Kato, T, Kaji, M, Kawahara, M, Suzuki, T, Kato, S, Kato, S, Shibata, H, Murakawa, Y, Yoshioka, T & Ishioka, C 2004, 'A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer', Journal of Gastroenterology, vol. 39, no. 12, pp. 1210-1214. https://doi.org/10.1007/s00535-004-1474-y

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T1 - A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer

AU - Takahashi, Masanobu

AU - Sakayori, Masato

AU - Takahashi, Shin

AU - Kato, Taku

AU - Kaji, Mitsuji

AU - Kawahara, Masanori

AU - Suzuki, Takao

AU - Kato, Satoshi

AU - Kato, Shunsuke

AU - Shibata, Hiroyuki

AU - Murakawa, Yasuko

AU - Yoshioka, Takashi

AU - Ishioka, Chikashi

PY - 2004/12

Y1 - 2004/12

N2 - 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.

AB - 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.

KW - Gastric cancer

KW - Germline mutation

KW - Immunohistochemistry

KW - LKB1 gene

KW - Peutz-Jeghers syndrome

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ER -

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

Abstract

Keywords

UN SDGs

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