Frequent loss of SMAD4/DPC4 protein in colorectal cancers
2002 (English)In: Gut, ISSN 0017-5749, E-ISSN 1468-3288, Vol. 51, no 1, 56-59 p.Article in journal (Refereed) Published
BACKGROUND AND AIMS: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. PATIENTS AND METHODS: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. RESULTS: SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-betaIIR mutations were positive for SMAD4 immunostaining. CONCLUSIONS: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.
Place, publisher, year, edition, pages
2002. Vol. 51, no 1, 56-59 p.
Chromosomes; Human; Pair 18/*genetics, Colorectal Neoplasms/chemistry/*genetics, DNA Mutational Analysis, DNA-Binding Proteins/analysis/*genetics, Gene Deletion, Genetic Markers, Humans, Immunohistochemistry/methods, Loss of Heterozygosity, Microsatellite Repeats, Receptors; Transforming Growth Factor beta/genetics, Smad4 Protein, Trans-Activators/analysis/*genetics
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-10422DOI: 10.1136/gut.51.1.56PubMedID: 12077092OAI: oai:DiVA.org:uu-10422DiVA: diva2:38190