<?xml version="1.0" encoding="UTF-8" standalone="yes"?>

<!-- Copyright (c) 2004-2026 Broad Institute, Inc., Massachusetts Institute of Technology, and Regents of the University of California.  All rights reserved.
     See license terms at www.gsea-msigdb.org/gsea/license_terms_list. Please note that certain gene sets have special access terms.
-->
<MSIGDB BUILD_DATE="Jan 29, 2026" VERSION="2026.1.Hs" NAME="export">
    <GENESET STANDARD_NAME="SCHWAB_TARGETS_OF_BMYB_POLYMORPHIC_VARIANTS_UP" SYSTEMATIC_NAME="M9811" 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 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." TAGS="" 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" MEMBERS_SYMBOLIZED="ACVR1B,CCND1,CDC25A,CDKN2C,CENPF,CUL4B,CUX2,HIF3A,ING1,MDM2,NFATC3,RHOT2,RXRA" MEMBERS_EZID="1031,1063,23316,3621,4193,4775,595,6256,64344,8450,89941,91,993" MEMBERS_MAPPING="202426_s_at,RXRA,6256|204696_s_at,CDC25A,993|205386_s_at,MDM2,4193|208218_s_at,ACVR1B,91|208415_x_at,ING1,3621|208711_s_at,CCND1,595|209172_s_at,CENPF,1063|210556_at,NFATC3,4775|211792_s_at,CDKN2C,1031|213920_at,CUX2,23316|215997_s_at,CUL4B,8450|216002_at,null,null|220691_at,null,null|221789_x_at,RHOT2,89941|222123_s_at,HIF3A,64344" FILTERED_BY_SIMILARITY="" FOUNDER_NAMES="" REFINEMENT_DATASETS="" VALIDATION_DATASETS="" CATEGORY_CODE="C2" ORGANISM="Homo sapiens" SUB_CATEGORY_CODE="CGP"/>
</MSIGDB>
