Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance

被引：13

作者：

Martin, Lesley-Ann ^{[1
]}

Ribas, Ricardo ^{[1
]}

Simigdala, Nikiana ^{[1
]}

Schuster, Eugene ^{[1
]}

Pancholi, Sunil ^{[1
]}

Tenev, Tencho ^{[1
]}

Gellert, Pascal ^{[1
]}

Buluwela, Laki ^{[2
]}

Harrod, Alison ^{[2
]}

Thornhill, Allan ^{[3
]}

Nikitorowicz-Buniak, Joanna ^{[1
]}

Bhamra, Amandeep ^{[4
]}

Turgeon, Marc-Olivier ^{[5
]}

Poulogiannis, George ^{[5
,6
]}

Gao, Qiong ^{[1
]}

Martins, Vera ^{[7
]}

Hills, Margaret ^{[7
]}

Garcia-Murillas, Isaac ^{[1
]}

Fribbens, Charlotte ^{[1
]}

Patani, Neill ^{[1
]}

Li, Zheqi ^{[8
]}

Sikora, Matthew J. ^{[8
]}

Turner, Nicholas ^{[1
]}

Zwart, Wilbert ^{[9
]}

Oesterreich, Steffi ^{[8
]}

Carroll, Jason ^{[10
]}

Ali, Simak ^{[2
]}

Dowsett, Mitch ^{[1
,7
]}

机构：

[1] Inst Canc Res, Breast Canc Now Toby Robins Res Ctr, London SW7 3RP, England

[2] Univ London, Imperial Coll, Div Canc, CRUK Labs, London W12 0NN, England

[3] Inst Canc Res, Ctr Canc Imaging, Sutton SM2 5NG, Surrey, England

[4] Inst Canc Res, Prote Unit, London SW7 3RP, England

[5] Inst Canc Res, Div Canc Biol, London SW3 6JB, England

[6] Imperial Coll London, Div Computat & Syst Med, Dept Surg & Canc, London SW7 2AZ, England

[7] Royal Marsden Hosp, Ralph Lauren Ctr Breast Canc Res, London SW3 6JB, England

[8] Univ Pittsburgh, Dept Pharmacol & Chem Biol, Pittsburgh, PA 15213 USA

[9] Netherlands Canc Inst, Dept Mol Pathol, NL-1066 CX Amsterdam, Netherlands

[10] Univ Cambridge, Canc Res UK Cambridge Inst, Cambridge CB2 0RE, England

来源：

NATURE COMMUNICATIONS | 2017年 / 8卷

基金：

英国惠康基金;

关键词：

ESTROGEN-RECEPTOR-ALPHA; ANTIESTROGEN RESISTANCE; POSTMENOPAUSAL WOMEN; SOMATIC MUTATIONS; BINDING; FULVESTRANT; MECHANISM;

D O I：

10.1038/s41467-017-01864-y

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Resistance to endocrine therapy remains a major clinical problem in breast cancer. Genetic studies highlight the potential role of estrogen receptor-alpha (ESR1) mutations, which show increased prevalence in the metastatic, endocrine-resistant setting. No naturally occurring ESR1 mutations have been reported in in vitro models of BC either before or after the acquisition of endocrine resistance making functional consequences difficult to study. We report the first discovery of naturally occurring ESR1(Y537C) and ESR1(Y537S) mutations in MCF7 and SUM44 ESR1-positive cell lines after acquisition of resistance to long-term-estrogendeprivation (LTED) and subsequent resistance to fulvestrant (ICIR). Mutations were enriched with time, impacted on ESR1 binding to the genome and altered the ESR1 interactome. The results highlight the importance and functional consequence of these mutations and provide an important resource for studying endocrine resistance.

引用

页数：15

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