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Disease Markers
Volume 17 (2001), Issue 2, Pages 67-75

Alternative Spliced Transcripts as Cancer Markers

Otavia L. Caballero,2 Sandro J. de Souza,2 Ricardo R. Brentani,1,2 and Andrew J. G. Simpson2

1Hospital do Cancer AC Camargo, São Paulo, Brazil
2Ludwig Institute for Cancer Research, São Paulo, Brazil

Received 20 September 2001; Accepted 20 September 2001

Copyright © 2001 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Eukaryotic mRNAs are transcribed as precursors containing their intronic sequences. These are subsequently excised and the exons are spliced together to form mature mRNAs. This process can lead to transcript diversification through the phenomenon of alternative splicing. Alternative splicing can take the form of one or more skipped exons, variable position of intron splicing or intron retention. The effect of alternative splicing in expanding protein repertoire might partially underlie the apparent discrepancy between gene number and the complexity of higher eukaryotes. It is likely that more than 50% form. Many cancer-associated genes, such as CD44 and WT1 are alternatively spliced. Variation of the splicing process occurs during tumor progression and may play a major role in tumorigenesis. Furthermore, alternatively spliced transcripts may be extremely useful as cancer markers, since it appears likely that there may be striking contrasts in usage of alternatively spliced transcript variants between normal and tumor tissue than in alterations in the general levels of gene expression.