STANDARD_NAME PUJANA_BREAST_CANCER_WITH_BRCA1_MUTATED_UP SYSTEMATIC_NAME M2180 COLLECTION C2:CGP MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/PUJANA_BREAST_CANCER_WITH_BRCA1_MUTATED_UP NAMESPACE HUMAN_SEQ_ACCESSION DESCRIPTION_BRIEF The XPRSS-Int network genes up-regulated in breast tumors from patients with germline mutations in BRCA1 [GeneID=672] compared to those with the wild type allele. DESCRIPTION_FULL Many cancer-associated genes remain to be identified to clarify the underlying molecular mechanisms of cancer susceptibility and progression. Better understanding is also required of how mutations in cancer genes affect their products in the context of complex cellular networks. Here we have used a network modeling strategy to identify genes potentially associated with higher risk of breast cancer. Starting with four known genes encoding tumor suppressors of breast cancer, we combined gene expression profiling with functional genomic and proteomic (or 'omic') data from various species to generate a network containing 118 genes linked by 866 potential functional associations. This network shows higher connectivity than expected by chance, suggesting that its components function in biologically related pathways. One of the components of the network is HMMR, encoding a centrosome subunit, for which we demonstrate previously unknown functional associations with the breast cancer-associated gene BRCA1. Two case-control studies of incident breast cancer indicate that the HMMR locus is associated with higher risk of breast cancer in humans. Our network modeling strategy should be useful for the discovery of additional cancer-associated genes. PMID 17922014 GEOID AUTHORS Pujana MA,Han JD,Starita LM,Stevens KN,Tewari M,Ahn JS,Rennert G,Moreno V,Kirchhoff T,Gold B,Assmann V,Elshamy WM,Rual JF,Levine D,Rozek LS,Gelman RS,Gunsalus KC,Greenberg RA,Sobhian B,Bertin N,Venkatesan K,Ayivi-Guedehoussou N,Solé X,Hernández P,Lázaro C,Nathanson KL,Weber BL,Cusick ME,Hill DE,Offit K,Livingston DM,Gruber SB,Parvin JD,Vidal M CONTRIBUTOR Arthur Liberzon CONTRIBUTOR_ORG MSigDB Team EXACT_SOURCE Table 4S: Difference > 0 FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL SOURCE_MEMBERS AF015592,AF035191,AL050353,Contig44640_RC,Contig52308_RC,Contig54898_RC,D42046,L35035,NM_000057,NM_000251,NM_001255,NM_001262,NM_001379,NM_001786,NM_001809,NM_002296,NM_002351,NM_002466,NM_002482,NM_002687,NM_002915,NM_002916,NM_002945,NM_003158,NM_003368,NM_003472,NM_003579,NM_003594,NM_004217,NM_004341,NM_004456,NM_004516,NM_004526,NM_004596,NM_004768,NM_005444,NM_005496,NM_005563,NM_005590,NM_005804,NM_005915,NM_005983,NM_006101,NM_006153,NM_006353,NM_006479,NM_006625,NM_006706,NM_006739,NM_007027,NM_007044,NM_007111,NM_007358,NM_012218,NM_012484,NM_012485,NM_014034,NM_014501,NM_014679,NM_014865,U74612,X74794 GENE_SYMBOLS CDC7,NASP,EXOSC8,,,,DNA2,RPIA,BLM,MSH2,CDC20,CDKN2C,DNMT1,CDK1,CENPA,LBR,SH2D1A,MYBL2,NASP,PNN,RFC3,RFC4,RPA1,,USP1,DEK,RAD54L,TTF2,AURKB,CAD,EZH2,ILF3,MCM2,SNRPA,SRSF11,CNOT9,SMC4,STMN1,MRE11,DDX39A,MCM6,SKP2,NDC80,NCK1,HMGN4,RAD51AP1,SRSF10,TCERG1,MCM5,TOPBP1,KATNA1,TFDP1,MTF2,ILF3,HMMR,HMMR,ASF1A,UBE2S,CEP57,NCAPD2,FOXM1,MCM4 FOUNDER_NAMES