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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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: PMID:9020077   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
colon adenocarcinoma susceptibilityIAGP 734633DNA:frameshift mutation: RGD 
colon adenocarcinoma susceptibilityISOBAX (Homo sapiens)734633; 734633DNA:frameshift mutation: RGD 

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