RGD Reference Report - Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. - Rat Genome Database

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Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype.

Authors: Rampino, N  Yamamoto, H  Ionov, Y  Li, Y  Sawai, H  Reed, JC  Perucho, M 
Citation: Rampino N, etal., Science 1997 Feb 14;275(5302):967-9.
RGD ID: 734633
Pubmed: (View Article at PubMed) PMID:9020077

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.

Annotation

Disease Annotations    
colon adenocarcinoma  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Bax  (BCL2 associated X, apoptosis regulator)

Genes (Mus musculus)
Bax  (BCL2-associated X protein)

Genes (Homo sapiens)
BAX  (BCL2 associated X, apoptosis regulator)


Additional Information