STANDARD_NAME	ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_DN
SYSTEMATIC_NAME	M8224
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_DN
NAMESPACE	HUMAN_GENE_SYMBOL
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.
PMID	16702952
GEOID	
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
CONTRIBUTOR	Arthur Liberzon
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 2
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_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
GENE_SYMBOLS	WWOX,MAF,ANKRD26P1,C16orf87,CAPNS2,CNTNAP4,ITFG1,CDH8,CDYL2,CES1,CES1P1,DNAJA2,DYNLRB2,LPCAT2,CES5A,GNAO1,GPT2,IRX6,MYLK3,MAF,MMP2,NETO2,ORC6,PHKB,SHCBP1,SLC6A2,VPS35
FOUNDER_NAMES