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<MSIGDB BUILD_DATE="Jan 29, 2026" VERSION="2026.1.Hs" NAME="export">
    <GENESET STANDARD_NAME="ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_DN" SYSTEMATIC_NAME="M8224" HISTORICAL_NAMES="" PMID="16702952" AUTHORS="Roylance R,Gorman P,Papior T,Wan YL,Ives M,Watson JE,Collins C,Wortham N,Langford C,Fiegler H,Carter N,Gillett C,Sasieni P,Pinder S,Hanby A,Tomlinson I" GEOID="" EXACT_SOURCE="Table 2" GENESET_LISTING_URL="" EXTERNAL_DETAILS_URL="" CHIP="HUMAN_GENE_SYMBOL" CONTRIBUTOR="Arthur Liberzon" CONTRIBUTOR_ORG="MSigDB Team" DESCRIPTION_BRIEF="Genes in discrete regions of loss within 16q region detected in individual invasive breast cancer tumors." DESCRIPTION_FULL="We analysed chromosome 16q in 106 breast cancers using tiling-path array-comparative genomic hybridization (aCGH). About 80% of ductal cancers (IDCs) and all lobular cancers (ILCs) lost at least part of 16q. Grade I (GI) IDCs and ILCs often lost the whole chromosome arm. Grade II (GII) and grade III (GIII) IDCs showed less frequent whole-arm loss, but often had complex changes, typically small regions of gain together with larger regions of loss. The boundaries of gains/losses tended to cluster, common sites being 54.5-55.5 Mb and 57.4-58.8 Mb. Overall, the peak frequency of loss (83% cancers) occurred at 61.9-62.9 Mb. We also found several 'minimal' regions of loss/gain. However, no mutations in candidate genes (TRADD, CDH5, CDH8 and CDH11) were detected. Cluster analysis based on copy number changes identified a large group of cancers that had lost most of 16q, and two smaller groups (one with few changes, one with a tendency to show copy number gain). Although all morphological types occurred in each cluster group, IDCs (especially GII/GIII) were relatively overrepresented in the smaller groups. Cluster groups were not independently associated with survival. Use of tiling-path aCGH prompted re-evaluation of the hypothetical pathways of breast carcinogenesis. ILCs have the simplest changes on 16q and probably diverge from the IDC lineage close to the stage of 16q loss. Higher-grade IDCs probably develop from low-grade lesions in most cases, but there remains evidence that some GII/GIII IDCs arise without a GI precursor." TAGS="" MEMBERS="AF211943,AF447709,AK125968,BC056676,CAPNS2,CASPR4,CDA08,CDH8,CDYL2,CES1,CES4,DNAJA2,DNCL2B,FLJ20481,FLJ31547,GNAO1,GPT2,IRX6,LOC91807,MAF,MMP2,NETO2,ORC6L,PHKB,SHCBP1,SLC6A2,VPS35" MEMBERS_SYMBOLIZED="ANKRD26P1,C16orf87,CAPNS2,CDH8,CDYL2,CES1,CES1P1,CES5A,CNTNAP4,DNAJA2,DYNLRB2,GNAO1,GPT2,IRX6,ITFG1,LPCAT2,MAF,MMP2,MYLK3,NETO2,ORC6,PHKB,SHCBP1,SLC6A2,VPS35,WWOX" MEMBERS_EZID="1006,10294,1066,124149,124359,221223,23594,2775,388272,4094,4313,51716,51741,5257,54947,55737,6530,79190,79801,81533,81831,83657,84290,84706,85445,91807" MEMBERS_MAPPING="AF211943,WWOX,51741|AF447709,MAF,4094|AK125968,ANKRD26P1,124149|BC056676,C16orf87,388272|CAPNS2,CAPNS2,84290|CASPR4,CNTNAP4,85445|CDA08,ITFG1,81533|CDH8,CDH8,1006|CDYL2,CDYL2,124359|CES1,CES1,1066|CES4,CES1P1,51716|DNAJA2,DNAJA2,10294|DNCL2B,DYNLRB2,83657|FLJ20481,LPCAT2,54947|FLJ31547,CES5A,221223|GNAO1,GNAO1,2775|GPT2,GPT2,84706|IRX6,IRX6,79190|LOC91807,MYLK3,91807|MAF,MAF,4094|MMP2,MMP2,4313|NETO2,NETO2,81831|ORC6L,ORC6,23594|PHKB,PHKB,5257|SHCBP1,SHCBP1,79801|SLC6A2,SLC6A2,6530|VPS35,VPS35,55737" FILTERED_BY_SIMILARITY="" FOUNDER_NAMES="" REFINEMENT_DATASETS="" VALIDATION_DATASETS="" CATEGORY_CODE="C2" ORGANISM="Homo sapiens" SUB_CATEGORY_CODE="CGP"/>
</MSIGDB>
