Analyses of Microsatellite Instability and the Transforming Growth Factor-β Receptor Type II Gene Mutation in Sporadic Human Gastrointestinal Cancer

• Published in: Cancer genetics and cytogenetics Vol. 115; no. 1; pp. 23 - 27
• Main Authors: Tomita, Shuji, Miyazato, Hiroshi, Tamai, Osamu, Muto, Yoshihiro, Toda, Takayoshi
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-11-1999; Elsevier Science
• Subjects: Base Sequence; Biological and medical sciences; Chromosome Aberrations; DNA Repair - genetics; Gastroenterology. Liver. Pancreas. Abdomen; Gastrointestinal Neoplasms - genetics; Humans; Medical sciences; Microsatellite Repeats - genetics; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Protein-Serine-Threonine Kinases; Receptor, Transforming Growth Factor-beta Type II; Receptors, Transforming Growth Factor beta - genetics; Sequence Analysis, DNA; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; Carcinoma; Transforming growth factor β; Cytokine; Malignant tumor; Gastrointestinal; Carcinogenesis; Single strand conformation polymorphism; Polymerase chain reaction; Growth factor receptor; Microsatellite DNA; Digestive diseases; Intestinal disease; Instability; Mutation; Molecular biology; Sequencing; Gastric disease; Growth factor
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(99)00074-6

Microsatellite instability (MSI) and transforming growth factor-
β receptor type II (
RII) gene mutation have been reported in many types of tumors and their instance seem to vary among the tumors investigated. To determine the relation between MSI and
RII gene mutation in sporadic gastrointestinal cancer development, 21 esophageal, 19 gastric, and 27 colorectal cancers were investigated. The presence of MSI was screened by single strand conformation polymorphism (SSCP) method using six microsatellite markers.
RII gene mutations were detected by SSCP method and direct sequencing. MSI was detected in seven of 21 (33.3%) esophageal cancers, three of 19 (15.8%) gastric cancers and seven of 27 (25.9%) colorectal cancers. However, RII gene mutations were observed in only two of seven (28.6%) MSI-positive colorectal cancers. Our data suggest that among sporadic gastrointestinal cancers, colorectal cancers seem to be the most frequent target organ involved in carcinogenesis through RII gene mutation, which thus appears to be related to organ specificity.