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.
Based on human genome assembly 19 (February 2009).
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].