Somatic Frameshift Mutations in the BAX Gene in Colon Cancers of the Microsatellite Mutator Phenotype
N Rampino, H Yamamoto, Y Ionov, Y Li, H Sawai… - Science, 1997 - science.org
N Rampino, H Yamamoto, Y Ionov, Y Li, H Sawai, JC Reed, M Perucho
Science, 1997•science.orgCancers of the microsatellite mutator phenotype (MMP) show exaggerated genomic
instability at simple repeat sequences. More than 50 percent (21 out of 41) of human MMP+
colon adenocarcinomas examined were found to have frameshift mutations in a tract of eight
deoxyguanosines [(G) 8] within BAX, a gene that promotes apoptosis. These mutations were
absent in MMP− tumors and were significantly less frequent in (G) 8 repeats from other
genes. Frameshift mutations were present in both BAX alleles in some MMP+ colon tumor …
instability at simple repeat sequences. More than 50 percent (21 out of 41) of human MMP+
colon adenocarcinomas examined were found to have frameshift mutations in a tract of eight
deoxyguanosines [(G) 8] within BAX, a gene that promotes apoptosis. These mutations were
absent in MMP− tumors and were significantly less frequent in (G) 8 repeats from other
genes. Frameshift mutations were present in both BAX alleles in some MMP+ colon tumor …
Cancers of the microsatellite mutator phenotype (MMP) show exaggerated genomic instability at simple repeat sequences. More than 50 percent (21 out of 41) of human MMP+ colon adenocarcinomas examined were found to have frameshift mutations in a tract of eight deoxyguanosines [(G)8] within BAX, a gene that promotes apoptosis. These mutations were absent in MMP− tumors and were significantly less frequent in (G)8 repeats from other genes. Frameshift mutations were present in both BAX alleles in some MMP+ colon tumor cell lines and in primary tumors. These results suggest that inactivating BAX mutations are selected for during the progression of colorectal MMP+ tumors and that the wild-type BAX gene plays a suppressor role in a p53-independent pathway for colorectal carcinogenesis.
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