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Ref Type Journal Article
PMID (27174596)
Authors Spoerke JM, Gendreau S, Walter K, Qiu J, Wilson TR, Savage H, Aimi J, Derynck MK, Chen M, Chan IT, Amler LC, Hampton GM, Johnston S, Krop I, Schmid P, Lackner MR
Title Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant.
Journal Nature communications
Vol 7
Issue
Date 2016
URL
Abstract Text Mutations in ESR1 have been associated with resistance to aromatase inhibitor (AI) therapy in patients with ER+ metastatic breast cancer. Little is known of the impact of these mutations in patients receiving selective oestrogen receptor degrader (SERD) therapy. In this study, hotspot mutations in ESR1 and PIK3CA from ctDNA were assayed in clinical trial samples from ER+ metastatic breast cancer patients randomized either to the SERD fulvestrant or fulvestrant plus a pan-PI3K inhibitor. ESR1 mutations are present in 37% of baseline samples and are enriched in patients with luminal A and PIK3CA-mutated tumours. ESR1 mutations are often polyclonal and longitudinal analysis shows distinct clones exhibiting divergent behaviour over time. ESR1 mutation allele frequency does not show a consistent pattern of increases during fulvestrant treatment, and progression-free survival is not different in patients with ESR1 mutations compared with wild-type patients. ESR1 mutations are not associated with clinical resistance to fulvestrant in this study.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA mutant estrogen-receptor positive breast cancer no benefit Fulvestrant + Pictilisib Phase II Actionable In a Phase II trial, Falsodex (fulvestrant) and Pictilisib (GDC-0941) combination treatment resulted in similar progression free survival in ER positive breast cancer patients harboring PIK3CA mutations and those who were PIK3CA wild-type (PMID: 27174596). 27174596
PIK3CA mutant estrogen-receptor positive breast cancer no benefit Fulvestrant Phase II Actionable In a Phase II trial, Falsodex (fulvestrant) treatment resulted in similar progression free survival in ER positive breast cancer patients harboring PIK3CA mutations and those who were PIK3CA wild-type (PMID: 27174596). 27174596