Ontology type: schema:ScholarlyArticle Open Access: True
1998-11
AUTHORSY Takagi, H Koumura, M Futamura, S Aoki, K Ymaguchi, H Kida, H Tanemura, K Shimokawa, S Saji
ABSTRACTThe SMAD-2 gene, which is located at 18q21, has been identified as a candidate tumour-suppressor gene from work on colorectal cancers. The aim of the present study was to determine the clinical alterations and the significance of its mutations in a series of colorectal cancers previously examined for SMAD-4/DPC-4 gene. Mutation analyses of the SMAD-2 gene were carried out on cDNA samples from 36 primary colorectal cancer specimens using a combination of the polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP) and DNA sequencing. Only one missense mutation (2.8%), producing an amino acid substitution in the highly conserved region, and two homozygous deletions (5.5%) of the total coding region of the SMAD-2 gene were detected in the 36 cancers. The SMAD-2 gene may play a role as a candidate tumour-suppressor gene in a small fraction of colorectal cancers. However, allelic loss at 18q21 is very often seen in this type of tumour. Even in combination with changes in SMAD-4, the observed frequency was not sufficient to account for all 18q21 deletions in colorectal cancers. Thus, another tumour-suppressor gene, such as DCC, discovered as the first tumour-suppressor candidate in the region may also exist in this chromosome region. More... »
PAGES1152-1155
http://scigraph.springernature.com/pub.10.1038/bjc.1998.645
DOIhttp://dx.doi.org/10.1038/bjc.1998.645
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/9820171
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