STANDARD_NAME	SCHWAB_TARGETS_OF_BMYB_POLYMORPHIC_VARIANTS_UP
SYSTEMATIC_NAME	M9811
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/SCHWAB_TARGETS_OF_BMYB_POLYMORPHIC_VARIANTS_UP
NAMESPACE	AFFY_HG_U133
DESCRIPTION_BRIEF	Genes up-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.
PMID	18026132
GEOID	
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
CONTRIBUTOR	Jessica Robertson
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 2S: WT to ATG
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	202426_s_at,204696_s_at,205386_s_at,208218_s_at,208415_x_at,208711_s_at,209172_s_at,210556_at,211792_s_at,213920_at,215997_s_at,216002_at,220691_at,221789_x_at,222123_s_at
GENE_SYMBOLS	RXRA,CDC25A,MDM2,ACVR1B,ING1,CCND1,CENPF,NFATC3,CDKN2C,CUX2,CUL4B,,,RHOT2,HIF3A
FOUNDER_NAMES