Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis

• Published in: American journal of human genetics Vol. 52; no. 2; pp. 280 - 285
• Main Authors: VARESCO, L, GISMONDI, V, SALA, P, SASSATELLI, R, PONZ DE LEON, M, BIASCO, G, ALLEGRETTI, A, ASTE, H, DE SANCTIS, S, ROSSETTI, C, ILLENI, M. T, SCIARRA, A, JAMES, R, DEL PORTO, G, WHITE, R, GERRARA, G. B, ROBERTSON, M, GRAMMATICO, P, GRODEN, J, CASARINO, L, DE BENEDETTI, L, BAFICO, A, BERTARIO, L
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01.02.1993
• Subjects: ADENOMAS; adenomatous polyposis coli; Adenomatous Polyposis Coli - diagnosis; Adenomatous Polyposis Coli - genetics; Adolescent; Adult; Base Sequence; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BODY; CARCINOMAS; Child; DETECTION; DIGESTIVE SYSTEM; DISEASES; DNA Mutational Analysis - methods; DNA SEQUENCING; DNA, Single-Stranded - analysis; Electrophoresis, Polyacrylamide Gel; Exons - genetics; Frameshift Mutation; Gastroenterology. Liver. Pancreas. Abdomen; GASTROINTESTINAL TRACT; GENE MUTATIONS; genes; Genes, APC; GENETIC MAPPING; Humans; identification; INTESTINES; Italy; LARGE INTESTINE; man; MAPPING; Medical sciences; Middle Aged; Molecular Sequence Data; Mutation; MUTATIONS; NEOPLASMS; Nucleic Acid Conformation; ORGANS; Original; Other diseases. Semiology; polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism, Genetic; Sequence Deletion; single-stranded conformation polymorphism; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; STRUCTURAL CHEMICAL ANALYSIS 550400 > Genetics; Italy; Europe; Human; Polymerase chain reaction; Family study; Digestive diseases; Intestinal disease; Tumor; Mutation; Familial adenomatous polyposis coli; Suppressor gene; Single strand conformation polymorphism; Genetic disease
• ISSN: 0002-9297; 1537-6605

The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. It is also implicated in the development of sporadic colorectal tumors. The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. Moreover, the identification of the spectrum of APC gene mutations in patients is of great interest in the study of the biological properties of the APC gene product. We analyzed the entire coding region of the APC gene by the PCR-single-strand conformation polymorphism method in 42 unrelated Italian APC patients. Mutations were found in 12 cases. These consist of small (5-14 bp) base-pair deletions leading to frameshifts; all are localized within exon 15. Two of these deletions, a 5-bp deletion at position 3183-3187 and a 5-bp deletion at position 3926-3930, are present in 3/42 and 7/42 cases of our series, respectively, indicating the presence of mutational hot spots at these two sites.