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 (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.
authors.affiliation: Department of Clinical Oncology, Institute of Development, Aging and Cancer, and Tohoku University Hospital, Tohoku University, 4-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
authors.forename: Masanobu
authors.initials: M
authors.lastname: Takahashi
authors.forename: Masato
authors.initials: M
authors.lastname: Sakayori
authors.forename: Shin
authors.initials: S
authors.lastname: Takahashi
authors.forename: Taku
authors.initials: T
authors.lastname: Kato
authors.forename: Mitsuji
authors.initials: M
authors.lastname: Kaji
authors.forename: Masanori
authors.initials: M
authors.lastname: Kawahara
authors.forename: Takao
authors.initials: T
authors.lastname: Suzuki
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kato
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Kato
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shibata
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Murakawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Yoshioka
authors.forename: Chikashi
authors.initials: C
authors.lastname: Ishioka
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D018450:Disease Progression; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013274:Stomach Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases