ESR1 mutations: a new biomarker in breast cancer

被引：62

作者：

Carausu, Marcela ^{[1
]}

Bidard, Francois-Clement ^{[1
,2
]}

Callens, Celine ^{[3
]}

Melaabi, Samia ^{[3
]}

Jeannot, Emmanuelle ^{[4
]}

Pierga, Jean-Yves ^{[1
,5
,6
]}

Cabel, Luc ^{[1
,2
]}

机构：

[1] PSL Res Univ, Inst Curie, Dept Med Oncol, St Cloud, France

[2] Paris Saclay Univ, Versailles St Quentin Yvelines Univ, Fac Med, Paris, France

[3] PSL Res Univ, Inst Curie, Dept Genet, Paris, France

[4] PSL Res Univ, Inst Curie, Dept Pathol, Paris, France

[5] Paris Descartes Univ, Fac Med, Paris, France

[6] PSL Res Univ, Inst Curie, Dept Med Oncol, Paris, France

来源：

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | 2019年 / 19卷 / 07期

关键词：

ESR1; breast cancer; hormone receptor; mutation; SERD; ESTROGEN-RECEPTOR-ALPHA; CELL-FREE DNA; CIRCULATING TUMOR DNA; ACQUIRED ENDOCRINE RESISTANCE; CLINICAL-SIGNIFICANCE; GENE AMPLIFICATION; INHIBITOR; PLASMA; AROMATASE; THERAPY;

D O I：

10.1080/14737159.2019.1631799

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Introduction: In hormone receptor-positive breast cancer, ESR1 mutations have emerged as a key mechanism of resistance to endocrine therapy. Areas covered: Here, we review currently available data on ESR1 mutations, regarding their functional impact, prevalence at different stages (and according to the material used: tissue-based analysis vs. liquid biopsy), prognostic impact and predictive value of resistance to aromatase inhibitors. Possible strategies to overcome this resistance by using selective estrogen receptor downregulators (such as fulvestrant) are also discussed. Expert opinion: ESR1 mutation detection will probably become a prognostic and predictive biomarker in the future, used in clinical practice for hormone-receptor breast cancer, especially in the metastatic setting. In the future, we should expect to assess ESR1 mutations, using liquid biopsy (by digital-PCR or next-generation sequencing), in the same way as other prognostic or predictive biomarkers, such as EGFR mutations in lung cancer, and possibly even have targeted-therapies against these mutations.

引用

页码：599 / 611

页数：13

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