Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage

被引：75

作者：

Betts, Joshua A. ^{[1
,2
]}

Marjaneh, Mahdi Moradi ^{[1
]}

Al-Ejeh, Fares ^{[1
]}

Lim, Yi Chieh ^{[1
]}

Shi, Wei ^{[1
]}

Sivakumaran, Haran ^{[1
]}

Tropee, Romain ^{[3
]}

Patch, Ann-Marie ^{[1
]}

Clark, Michael B. ^{[4
,5
]}

Bartonicek, Nenad ^{[5
,6
]}

Wiegmans, Adrian P. ^{[1
]}

Hillman, Kristine M. ^{[1
]}

Kaufmann, Susanne ^{[1
]}

Bain, Amanda L. ^{[1
]}

Gloss, Brian S. ^{[5
,6
]}

Crawford, Joanna ^{[7
]}

Kazakoff, Stephen ^{[1
]}

Wani, Shivangi ^{[1
]}

Wen, Shu W. ^{[1
]}

Day, Bryan ^{[1
]}

Moller, Andreas ^{[1
]}

Cloonan, Nicole ^{[1
,8
]}

Pearson, John ^{[1
]}

Brown, Melissa A. ^{[2
]}

Mercer, Timothy R. ^{[5
,6
]}

Waddell, Nicola ^{[1
]}

Khanna, Kum Kum ^{[1
]}

Dray, Eloise ^{[3
]}

Dinger, Marcel E. ^{[5
,6
]}

Edwards, Stacey L. ^{[1
]}

French, Juliet D. ^{[1
]}

机构：

[1] QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld 4006, Australia

[2] Univ Queensland, Sch Chem & Mol Biosci, Brisbane, Qld 4072, Australia

[3] Queensland Univ Technol, Translat Res Inst, Brisbane, Qld 4102, Australia

[4] Univ Oxford, Dept Psychiat, Warneford Hosp, Oxford OX1 2JD, England

[5] Garvan Inst Med Res, Sydney, NSW 2010, Australia

[6] Univ New South Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW 2052, Australia

[7] Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia

[8] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Brisbane, Qld 4059, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2017年 / 101卷 / 02期

基金：

澳大利亚研究理事会; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; DOUBLE-STRAND BREAKS; HOMOLOGOUS RECOMBINATION; MUTATIONAL PROCESSES; SUSCEPTIBILITY LOCI; CYCLIN D1; GENE; QUANTIFICATION; STABILITY; VARIANTS;

D O I：

10.1016/j.ajhg.2017.07.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Breast cancer risk is strongly associated with an intergenic region on 11q13. We have previously shown that the strongest risk-associated SNPs fall within a distal enhancer that regulates CCND1. Here, we report that, in addition to regulating CCND1, this enhancer regulates two estrogen-regulated long noncoding RNAs, CUPID1 and CUPID2. We provide evidence that the risk-associated SNPs are associated with reduced chromatin looping between the enhancer and the CUPID1 and CUPID2 bidirectional promoter. We further show that CUPID1 and CUPID2 are predominantly expressed in hormone-receptor-positive breast tumors and play a role in modulating pathway choice for the repair of double-strand breaks. These data reveal a mechanism for the involvement of this region in breast cancer.

引用

页码：255 / 266

页数：12

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