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Table 1.

Examples of mutations in splicing cis-acting sequences that are associated with malignant disease

Gene (function) Disease Mutated sequence Molecular consequences Ref.
LKB1 (tumor suppressor)   Peutz-Jeghers Syndrome (increased cancer risk)   IVS2+1A>G   Disruption of minor spliceosome; mutated 5′ splice site is still used, together with cryptic, non-canonical 3′ splice sites; lower protein levels   Hasting et al., 2005  
KIT (oncogene)   Gastrointestinal stromal tumor   Deletion of 30 or 34 nucleotides including IVS10 3′ splice site   Aberrant splicing; constitutive protein activation  Chen et al., 2005  
CDH17 (LI-cadherin)   Hepatocellular carcinoma   IVS6+35A>G   Generation of an ISS(?); exon 7 skipping  Wang et al., 2005  
CDH17 (LI-cadherin)   Hepatocellular carcinoma   E6 codon 651   Generation of a ESS(?); exon 7 skipping  Wang et al., 2005  
KLF6 (tumor suppressor)   Prostate cancer   IVS1-27G>A (`IVSΔA allele')   Generation of binding site (ISE) for SRp40; novel splicing variants act as dominant negatives  Narla et al., 2005  
HAS1 (hyaluronan synthase)   Multiple myeloma   E3 C7760T   Exon 4 skipping  Adamia et al., 2005  
BRCA1 (tumor suppressor)   Breast and ovarian cancer   E18 G5199T (E1694X)   ESE disruption; exon 18 skipping  Mazoyer et al., 1998  
Gene (function) Disease Mutated sequence Molecular consequences Ref.
LKB1 (tumor suppressor)   Peutz-Jeghers Syndrome (increased cancer risk)   IVS2+1A>G   Disruption of minor spliceosome; mutated 5′ splice site is still used, together with cryptic, non-canonical 3′ splice sites; lower protein levels   Hasting et al., 2005  
KIT (oncogene)   Gastrointestinal stromal tumor   Deletion of 30 or 34 nucleotides including IVS10 3′ splice site   Aberrant splicing; constitutive protein activation  Chen et al., 2005  
CDH17 (LI-cadherin)   Hepatocellular carcinoma   IVS6+35A>G   Generation of an ISS(?); exon 7 skipping  Wang et al., 2005  
CDH17 (LI-cadherin)   Hepatocellular carcinoma   E6 codon 651   Generation of a ESS(?); exon 7 skipping  Wang et al., 2005  
KLF6 (tumor suppressor)   Prostate cancer   IVS1-27G>A (`IVSΔA allele')   Generation of binding site (ISE) for SRp40; novel splicing variants act as dominant negatives  Narla et al., 2005  
HAS1 (hyaluronan synthase)   Multiple myeloma   E3 C7760T   Exon 4 skipping  Adamia et al., 2005  
BRCA1 (tumor suppressor)   Breast and ovarian cancer   E18 G5199T (E1694X)   ESE disruption; exon 18 skipping  Mazoyer et al., 1998  
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