Splice variants as cancer biomarkers.

Abstract:

:Inherited and acquired changes in pre-mRNA splicing have been documented to play a significant role in human disease development and many cancer-associated genes are regulated by alternative splicing. Loss of fidelity, variation of the splicing process, even controlled switching to specific splicing alternatives may occur during tumor progression and could play a major role in carcinogenesis. Splice variants that are found predominantly in tumors have clear diagnostic value and may provide potential drug targets. Moreover, understanding the process of aberrant splicing and the detailed characterization of the splice variants may prove crucial to our understanding of malignant transformation. This review discusses the basic mechanism of alternative splicing, alternative splicing in cancer-associated genes, tools to identify splice variants, and the development of clinical tests based on alternatively spliced biomarkers.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Brinkman BM

doi

10.1016/j.clinbiochem.2004.05.015

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

584-94

issue

7

eissn

0009-9120

issn

1873-2933

pii

S0009912004001377

journal_volume

37

pub_type

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