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<MSIGDB BUILD_DATE="Jan 29, 2026" VERSION="2026.1.Hs" NAME="export">
    <GENESET STANDARD_NAME="SCHWAB_TARGETS_OF_BMYB_POLYMORPHIC_VARIANTS_DN" SYSTEMATIC_NAME="M10651" HISTORICAL_NAMES="" PMID="18026132" AUTHORS="Schwab R,Bussolari R,Corvetta D,Chayka O,Santilli G,Kwok JM,Ferrari-Amorotti G,Tonini GP,Iacoviello L,Bertorelle R,Menin C,Hubank M,Calabretta B,Sala A" GEOID="" EXACT_SOURCE="Table 2S: WT to ATG" GENESET_LISTING_URL="" EXTERNAL_DETAILS_URL="" CHIP="AFFY_HG_U133" CONTRIBUTOR="Jessica Robertson" CONTRIBUTOR_ORG="MSigDB Team" DESCRIPTION_BRIEF="Genes down-regulated in 293 cells (embryonic kidney) expressing  polymorphic variants S427G (SNP ID=rs2070235) or I624M (SNP ID=rs11556379) of BMYB [GeneID=4605]." DESCRIPTION_FULL="The B-MYB proto-oncogene is a transcription factor belonging to the MYB family that is frequently overexpressed or amplified in different types of human malignancies. While it is suspected that B-MYB plays a role in human cancer, there is still no direct evidence of its causative role. Looking for mutations of the B-MYB gene in human cell lines and primary cancer samples, we frequently isolated two nonsynonymous B-MYB polymorphic variants (rs2070235 and rs11556379). Compared to the wild-type protein, the B-MYB isoforms display altered conformation, impaired regulation of target genes and decreased antiapoptotic activity, suggesting that they are hypomorphic variants of the major allele. Importantly, the B-MYB polymorphisms are common; rs2070235 and rs11556379 are found, depending on the ethnic background, in 10-50% of human subjects. We postulated that, if B-MYB activity is important for transformation, the presence of common, hypomorphic variants might modify cancer risk. Indeed, the B-MYB polymorphisms are underrepresented in 419 cancer patients compared to 230 controls (odds ratio 0.53; (95%) confidence interval 0.385-0.755; P=0.001). This data imply that a large fraction of the human population is carrier of B-MYB alleles that might be associated with a reduced risk of developing neoplastic disease." TAGS="" MEMBERS="203185_at,204235_s_at,204908_s_at,205259_at,205288_at,205600_x_at,209717_at,209946_at,209956_s_at,210827_s_at,210965_x_at,211089_s_at,211547_s_at,211722_s_at,213183_s_at,213204_at,220325_at" MEMBERS_SYMBOLIZED="BCL3,CDC14A,CDK13,CUL9,ELF3,EVI5,GULP1,HDAC6,HOXB5,NEK3,NR3C2,PAFAH1B1,RASSF2,TAF7L,VEGFC" MEMBERS_EZID="10013,1999,23113,3215,4306,4752,5048,51454,54457,602,7424,7813,8556,8621,9770" MEMBERS_MAPPING="203185_at,RASSF2,9770|204235_s_at,GULP1,51454|204908_s_at,BCL3,602|205259_at,NR3C2,4306|205288_at,CDC14A,8556|205600_x_at,HOXB5,3215|209717_at,EVI5,7813|209946_at,VEGFC,7424|209956_s_at,null,null|210827_s_at,ELF3,1999|210965_x_at,CDK13,8621|211089_s_at,NEK3,4752|211547_s_at,PAFAH1B1,5048|211722_s_at,HDAC6,10013|213183_s_at,null,null|213204_at,CUL9,23113|220325_at,TAF7L,54457" FILTERED_BY_SIMILARITY="" FOUNDER_NAMES="" REFINEMENT_DATASETS="" VALIDATION_DATASETS="" CATEGORY_CODE="C2" ORGANISM="Homo sapiens" SUB_CATEGORY_CODE="CGP"/>
</MSIGDB>
