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J Med Genet 46:497-510 doi:10.1136/jmg.2009.066944
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Apoptosis and cancer: mutations within caspase genes

Table 6 Caspase-1, -4, and -5 somatic mutations in different cancers
Caspase Tumour type Total case numbers Cases with mutation Mutation site Nucleotide change (predicted amino acid change)
Caspase-1142 Gastric carcinoma 54 2 Exon 7 (p10) 1034 T>A (M345K)
Intron 2 VS2-3C>A (unknown)
Caspase-4142 Colon carcinoma 103 2 Intron 6 IVS6+9C>A (unknown)
Exon 3 (p20) 346 G>T (R116I)
Caspase-5142 NSCLC (adenocarcinoma) 60 1 Exon 4 (p20) 629TNA (L210Q)
Caspase-5142 Colon carcinoma 103 4 Exon 2 (CARD domain) 153_154delAA (frameshift after codon 51 and stop at codon 68)
Exon 2 (CARD domain) 154dupA (frameshift after codon 51 and stop at codon 68)
5′-UTR -21_-22AA (unknown)
Intron 6 IVS6+6T>A (unknown)
Caspase-5142 Gastric carcinoma 54 9 5′-UTR (4 cases) -21_-22AA (unknown)
Exon 2 (CARD domain) (3 cases) 154delA (frameshift after codon 51 and stop at codon 77)
Exon 2 (CARD domain) 153_154delAA (frameshift after codon 51 and stop at codon 68)
Caspase-5142 Breast carcinoma 60 1 Exon 1 105T>C (N35N)

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