Gene Set: HEDENFALK_BREAST_CANCER_BRACX_DN

Standard name HEDENFALK_BREAST_CANCER_BRACX_DN
Systematic name M8941
Brief description Down-regulated genes distinguishing between two groups of non-BRCA1/BRCA2 [GeneID=672;675] breast tumors (BRACx): group A vs group B.
Full description or abstract In the decade since their discovery, the two major breast cancer susceptibility genes BRCA1 and BRCA2, have been shown conclusively to be involved in a significant fraction of families segregating breast and ovarian cancer. However, it has become equally clear that a large proportion of families segregating breast cancer alone are not caused by mutations in BRCA1 or BRCA2. Unfortunately, despite intensive effort, the identification of additional breast cancer predisposition genes has so far been unsuccessful, presumably because of genetic heterogeneity, low penetrance, or recessive/polygenic mechanisms. These non-BRCA1/2 breast cancer families (termed BRCAx families) comprise a histopathologically heterogeneous group, further supporting their origin from multiple genetic events. Accordingly, the identification of a method to successfully subdivide BRCAx families into recognizable groups could be of considerable value to further genetic analysis. We have previously shown that global gene expression analysis can identify unique and distinct expression profiles in breast tumors from BRCA1 and BRCA2 mutation carriers. Here we show that gene expression profiling can discover novel classes among BRCAx tumors, and differentiate them from BRCA1 and BRCA2 tumors. Moreover, microarray-based comparative genomic hybridization (CGH) to cDNA arrays revealed specific somatic genetic alterations within the BRCAx subgroups. These findings illustrate that, when gene expression-based classifications are used, BRCAx families can be grouped into homogeneous subsets, thereby potentially increasing the power of conventional genetic analysis.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 12610208   Authors: Hedenfalk I,Ringner M,Ben-Dor A,Yakhini Z,Chen Y,Chebil G,Ach R,Loman N,Olsson H,Meltzer P,Borg A,Trent J
Exact source Fig 1a: green in Group A
Related gene sets (show 1 additional gene sets from the source publication)

(show 52 gene sets from the same authors)
External links  
Organism Homo sapiens
Contributed by John Newman (University of Washington)
Source platform HUMAN_GENE_SYMBOL
Dataset references  
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps (show collections to investigate for overlap with this gene set)
Compendia expression profiles Human tissue compendium (Novartis)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 20 genes
Gene families Categorize these 20 genes by gene family
Show members (show 21 members mapped to 20 genes)
Version history 3.0: Renamed from BRACX_DN

See MSigDB license terms here. Please note that certain gene sets have special access terms.