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. 2012 Jun 21;8(6):e1002734. doi: 10.1371/journal.pgen.1002734

Table 3. Genes disrupted or deleted entirely in breast cancer cases and involved in TP53 and β-estradiol centered network.

Gene Aberration type Involved exonsa Predicted consequence to transcriptb
BLM disruption promoter dup unknown
EIF2C2 disruption ex2-ex18,3′UTR dup unknown
HECW2 disruption promoter, ex1 dup unknown
RECQL4 deletion entire gene null allele
DAB2IP disruption promoter, ex1 del null allele
LRRC14 deletion entire gene null allele
ITGA9 disruption ex19-ex23 del in frame deletion
ACSL1 deletion entire gene null allele
KLHL1 disruption promoter, ex1 del null allele
ESR2 disruption ex2-ex9, 3′UTR dup unknown
ARHGAP39 disruption ex12-ex13, 3′UTR del premature termination
LRRFIP1 disruption promoter, ex1 dup unknown
CASP3 deletion entire gene null allele
TRPM3 disruption promoter, ex1 dup unknown
KCNIP4 disruption ex6-ex9, 3′UTR dup unknown
DCLRE1C disruption promoter, ex1-ex4 del null allele
TRAPPC9 disruption promoter, ex1-ex3 dup unknown
STRN disruption ex14-ex18, 3′ UTR dup unknown
PPP1R16A disruption ex6-ex10, 3′UTR del premature termination
SYNE2 disruption ex50-ex114, 3′UTR dup unknown
MARCH6 disruption ex4-ex26, 3′UTR dup unknown
GPT deletion entire gene null allele
MLF1IP deletion entire gene null allele
SEMA4B disruption ex3-ex15, 3′UTR dup unknown
RBFOX1 disruption ex11-ex13, 3′UTR dup unknown
ANKS1B disruption promoter, ex1 dup unknown
NXPH1 disruption promoter, ex1-ex2 del null allele
MEP1B deletion entire gene null allele

Disruption = the gene is disrupted by the CNV breakpoints; deletion = the entire gene is deleted. del = partial gene deletion; dup = partial gene duplication.

a

Based on human genome assembly 19 (February 2009).

b

Although detailed effects of partial gene duplication to gene transcription are not clear, duplication have potential to disrupt transcription by several mechanisms, such as transcriptional read-through. This can occur by tandem duplication, where gene silencing can be induced by a partially duplicated (3′ deleted) version of the gene itself [54].