Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients

• Published in: Science (American Association for the Advancement of Science) Vol. 253; no. 5020; pp. 665 - 669
• Main Authors: Nishisho, Isamu, Nakamura, Yusuke, Miyoshi, Yasuo, Miki, Yoshio, Ando, Hiroshi, Horii, Akira, Koyama, Kumiko, Utsunomiya, Joji, Baba, Shozo, Hedge, Philip, Markham, Alex, Krush, Anne J., Petersen, Gloria, Hamilton, Stanley R., Nilbert, Mef C., Levy, Daniel B., Bryan, Tracy M., Preisinger, Antonette C., Smith, Kelly J., Su, Li-Kuo, Kinzler, Kenneth W., Vogelstein, Bert
• Format: Journal Article
• Language: English
• Published: Washington, DC American Society for the Advancement of Science 09.08.1991; American Association for the Advancement of Science; The American Association for the Advancement of Science
• Subjects: Adenomatous Polyposis Coli - genetics; Amino Acid Sequence; APC genes; Base Sequence; Biological and medical sciences; Cancer; Cell lines; Chromosome abnormalities; Chromosome Mapping; Chromosomes, Human, Pair 5; Codon - genetics; Codons; Colonic Neoplasms - genetics; Colorectal cancer; DNA; DNA, Neoplasm - genetics; DNA, Neoplasm - isolation & purification; Exons; Familial polyposis; Gastroenterology. Liver. Pancreas. Abdomen; Genetic aspects; Genetic Linkage; Genetic mutation; Genetic Variation; Genetics; Humans; Medical research; Medical sciences; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Point mutation; Polymerase chain reaction; Polymerase Chain Reaction - methods; Polyposis, Familial; Rectal Neoplasms - genetics; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; B5-Chromosome; Inheritance; Rectum; Digestive diseases; Tumor; Colon; Mutation; Malignant tumor; Polyp
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.1651563

Previous studies suggested that one or more genes on chromosome 5q21 are responsible for the inheritance of familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), and contribute to tumor development in patients with noninherited forms of colorectal cancer. Two genes on 5q21 that are tightly linked to FAP (MCC and APC) were found to be somatically altered in tumors from sporadic colorectal cancer patients. One of the genes (APC) was also found to be altered by point mutation in the germ line of FAP and GS patients. These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. The identification of these genes should aid in understanding the pathogenesis of colorectal neoplasia and in the diagnosis and counseling of patients with inherited predispositions to colorectal cancer.