Cancer Immune Therapy Edited by G. Stuhler and P. Walden ...

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Tab. 5.1 HLA class I loss attributable to alterations in the b2-m gene
Tumor cell line Tumor type Molecular alteration References
GR34 melanoma TTCT deletion in leader sequence 50
BB74-MEL melanoma C ? G in exon 2 144
LB1622-MEL melanoma T ? A in exon 1 144
Me1386 melanoma CT deletion in exon 1 49
Me18105 melanoma A ? G in splice acceptor site of intron1 49
Me9922 melanoma 14-bp deletion in exon 2 49
FO-1 melanoma deletion of first exon of the 5' flanking 47
region and of a segment of the first intron
LoVo colorectal carcinoma CT deletion in leader sequence 145
HCT15/DLD1 colorectal carcinoma C ? A in exon 2/G / T in intron 1 145
SW48 colorectal carcinoma CTCT deletion in leader sequence 145
deletion in exon 2
HRA19 colorectal carcinoma TCTT deletion in exon 2 146
C84 colorectal carcinoma G ? A in exon 2 146
Daudi Burkitt's lymphoma G ? C at initiation codon 147
H2009 lung adenocarcinoma A ? G in initiation codon 148
H630 colorectal carcinoma CT deletion in exon 1 148
SK-MEL melanoma G deletion at position 323 in codon 76 48
Cell line Mutation Location Effect Position
FO-1 large deletion promoter-intron 1 inhibits transcription 1
mel1074 T?C transition initiation codon inhibits translation 2
Me 1386, 1106mel,
1180mel, 1259mel
CT deletion exon 1 frameshift and early stop codon 3
Me18105 A?G transition intron 1 splice
acceptor site
frameshift and early stop codon 4
SK-MEL-33 single base deletion exon 2 frameshift and early stop codon 5
mel1180 C?G transversion exon 2 early stop codon 6
Me 9923 14 bp deletion exon 2 frameshift and early stop codon 7
Fig. 5.8 Localization of b2-m mutations. The localization of the major b2-m mutations are marked
demonstrating a ªhot spotº region in exon 2.