title: Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability.
abstract: Germline mutations of the STK11 gene lead to emergence of hamartomas in the gastrointestinal tract of patients with Peutz-Jeghers syndrome, who bear an increased risk of malignancies of the gastrointestinal tract, genital tract, and other organs. We analyzed 80 sporadic colorectal cancers, six small-intestinal cancers, and 40 gastric cancers for somatic mutations of STK11 by SSCP methods. Among them only one colorectal cancer, which showed a phenotype of microsatellite instability, was found to possess a deleterious mutation in this gene, a frameshift involving deletion of one base at codons 279-281. This region of the gene contains a mononucleotide-repeat sequence, CCCCCC. The other allele of STK11 had been lost in this tumor. If the STK11 gene is one of the mutational targets of microsatellite instability, its inactivation may be associated with tumor development in a small proportion of colorectal cancers.
authors.affiliation: Division of Clinical Genetics, Osaka University Medical School.
authors.forename: H
authors.initials: H
authors.lastname: Nakagawa
authors.forename: K
authors.initials: K
authors.lastname: Koyama
authors.forename: S
authors.initials: S
authors.lastname: Nakamori
authors.forename: M
authors.initials: M
authors.lastname: Kameyama
authors.forename: S
authors.initials: S
authors.lastname: Imaoka
authors.forename: M
authors.initials: M
authors.lastname: Monden
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D016368:Frameshift Mutation; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases