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BIOMARKER:

ER positive + ESR1 mutation + CCND1 amplification

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Entrez ID:

Related biomarkers:

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PIK3CA mutation + HR positive (16)

PIK3CA mutation + ER positive (10)

ESR1 mutation + HR positive (6)

ESR1 wild-type + HR positive (4)

BRCA1 mutation + HR positive (3)

BRCA2 mutation + HR positive (3)

ER positive + PIK3CA H1047R (3)

FGFR1 amplification + HR positive (3)

HR positive + BRCA2 mutation (3)

HR-positive + PIK3CA wild-type (3)

PIK3CA exon 20 mutation + HR positive (3)

AKT1 E17K + HR positive (2)

AKT1 mutation + ER positive (2)

AKT1 mutation + HR positive (2)

ER Y537S + ER positive (2)

ER positive + TP53 mutation (2)

HR negative + BRCA1 mutation (2)

HR negative + BRCA2 mutation (2)

HR positive + BRCA1 mutation (2)

HR positive + MYC amplification (2)

HR positive + TP53 mutation (2)

PIK3CA mutation + ER negative (2)

PTEN deletion + ER positive (2)

AKT1 mutation + ER negative (1)

BRCA1 mutation + HER-2 negative + ER positive + PGR positive (1)

BRCA2 mutation + ER positive (1)

BRCA2 mutation + ER positive + PGR positive (1)

CCND1 mutation + HR positive (1)

CCND2 mutation + HR positive (1)

CCNE1 overexpression + PIK3CA muattion + ER positive (1)

CCNE2 overexpression + PIK3CA mutation + ER positive (1)

CDK4 mutation + HR positive (1)

CDKN1B mutation + HR positive (1)

EGFR mutation + ER positive (1)

ER D538G + ER positive (1)

ER E380Q + ER positive (1)

ER L536H + ER D538G + CCND1 amplification (1)

ER Y537N + ER positive (1)

ER negative + HER-2 positive + PGR positive + PIK3CA mutation (1)

ER positive + ESR1 mutation + FGFR1 amplification (1)

ER positive + ESR1 mutation + PIK3CA mutation (1)

ER positive + ESR1 mutation + TP53 mutation (1)

ER positive + FGFR1 amplification (1)

ER positive + FGFR3 amplification (1)

ER positive + HER-2 D769H + HER-2 V777L (1)

ER positive + MLH1 1835del3 + MSI-H/dMMR + TMB-H (1)

ER positive + ZNF217 overexpression (1)

ER underexpression + ER Y537S (1)

ERBB4 H809G + ER positive (1)

ESR1 mutation + PIK3CA mutation + HR positive (1)

FGF19 amplification + ER positive (1)

FGF3 amplification + ER positive (1)

FGF4 amplification + ER positive (1)

FOXA1 expression + ER positive (1)

HER-2 amplification + ER positive + PGR negative (1)

HR negative + EGFR amplification (1)

HR positive + APOBEC signature (1)

HR positive + AURKA amplification (1)

HR positive + AURKA mutation (1)

HR positive + BRAF V600E (1)

HR positive + BRCA1 mutation + PALB2 mutation (1)

HR positive + BRCA2 mutation + PALB2 mutation (1)

HR positive + BRIP1 amplification (1)

HR positive + CCND1 amplification (1)

HR positive + HER-2 amplification (1)

HR positive + HER-2 mutation (1)

HR positive + MYC mutation (1)

HR positive + PIK3CA exon 10 mutation (1)

HR positive + PTEN deletion (1)

HR positive + RAD51C amplification (1)

HR positive + RB1 mutation (1)

HR positive + TMB-H (1)

HR positive + TMB-L (1)

High HDAC6 score + HR positive (1)

KRAS mutation + CDK9 overexpression + HR positive (1)

KRAS mutation + ER expression (1)

KRAS mutation + HR positive (1)

MTOR mutation + HR positive (1)

MYC mutation + ER positive (1)

PIK3CA E542K + HR positive (1)

PIK3CA amplification + PIK3CA mutation + HR positive (1)

PIK3CA exon 7 mutation + HR positive (1)

PIK3CA exon 9 mutation + HR positive (1)

PIK3CA mutation + ESR1 wild-type (1)

PIK3CA mutation + HR positive + HER-2 negative (1)

PIK3CA wild-type+ ESR1 wild-type (1)

PTEN mutation + HR positive (1)

TP53 wild-type + ER positive (1)

ALK fusion + MYC amplification + CCND1 deletion + FGFR3 deletion (1)

ALK positive + MYC amplification + CCND1 deletion (1)

EGFR exon 19 deletion + CCND1 overexpression (1)

EGFR mutation + CCND1 expression + CDKN2A deletion (1)

AKT1 E17K + CTNNB1 G34R + ER Y537S + MSI-H (0)

ER negative + HER-2 positive + PIK3CA H1047R (0)

ER positive + BRCA1 mutation (0)

ER positive + BRCA2 mutation (0)

ER positive + HER-2 negative + ER mutation (0)

HR positive + HER-2 negative + TMB-L (0)

PIK3CA mutation + ER negative + PGR positive (0)

PIK3CA mutation + HR positive (16)

PIK3CA mutation + ER positive (10)

ESR1 mutation + HR positive (6)

ESR1 wild-type + HR positive (4)

BRCA1 mutation + HR positive (3)

BRCA2 mutation + HR positive (3)

ER positive + PIK3CA H1047R (3)

FGFR1 amplification + HR positive (3)

HR positive + BRCA2 mutation (3)

HR-positive + PIK3CA wild-type (3)

PIK3CA exon 20 mutation + HR positive (3)

AKT1 E17K + HR positive (2)

AKT1 mutation + ER positive (2)

AKT1 mutation + HR positive (2)

ER Y537S + ER positive (2)

ER positive + TP53 mutation (2)

HR negative + BRCA1 mutation (2)

HR negative + BRCA2 mutation (2)

HR positive + BRCA1 mutation (2)

HR positive + MYC amplification (2)

HR positive + TP53 mutation (2)

PIK3CA mutation + ER negative (2)

PTEN deletion + ER positive (2)

AKT1 mutation + ER negative (1)

BRCA1 mutation + HER-2 negative + ER positive + PGR positive (1)

BRCA2 mutation + ER positive (1)

BRCA2 mutation + ER positive + PGR positive (1)

CCND1 mutation + HR positive (1)

CCND2 mutation + HR positive (1)

CCNE1 overexpression + PIK3CA muattion + ER positive (1)

CCNE2 overexpression + PIK3CA mutation + ER positive (1)

CDK4 mutation + HR positive (1)

CDKN1B mutation + HR positive (1)

EGFR mutation + ER positive (1)

ER D538G + ER positive (1)

ER E380Q + ER positive (1)

ER L536H + ER D538G + CCND1 amplification (1)

ER Y537N + ER positive (1)

ER negative + HER-2 positive + PGR positive + PIK3CA mutation (1)

ER positive + ESR1 mutation + FGFR1 amplification (1)

ER positive + ESR1 mutation + PIK3CA mutation (1)

ER positive + ESR1 mutation + TP53 mutation (1)

ER positive + FGFR1 amplification (1)

ER positive + FGFR3 amplification (1)

ER positive + HER-2 D769H + HER-2 V777L (1)

ER positive + MLH1 1835del3 + MSI-H/dMMR + TMB-H (1)

ER positive + ZNF217 overexpression (1)

ER underexpression + ER Y537S (1)

ERBB4 H809G + ER positive (1)

ESR1 mutation + PIK3CA mutation + HR positive (1)

FGF19 amplification + ER positive (1)

FGF3 amplification + ER positive (1)

FGF4 amplification + ER positive (1)

FOXA1 expression + ER positive (1)

HER-2 amplification + ER positive + PGR negative (1)

HR negative + EGFR amplification (1)

HR positive + APOBEC signature (1)

HR positive + AURKA amplification (1)

HR positive + AURKA mutation (1)

HR positive + BRAF V600E (1)

HR positive + BRCA1 mutation + PALB2 mutation (1)

HR positive + BRCA2 mutation + PALB2 mutation (1)

HR positive + BRIP1 amplification (1)

HR positive + CCND1 amplification (1)

HR positive + HER-2 amplification (1)

HR positive + HER-2 mutation (1)

HR positive + MYC mutation (1)

HR positive + PIK3CA exon 10 mutation (1)

HR positive + PTEN deletion (1)

HR positive + RAD51C amplification (1)

HR positive + RB1 mutation (1)

HR positive + TMB-H (1)

HR positive + TMB-L (1)

High HDAC6 score + HR positive (1)

KRAS mutation + CDK9 overexpression + HR positive (1)

KRAS mutation + ER expression (1)

KRAS mutation + HR positive (1)

MTOR mutation + HR positive (1)

MYC mutation + ER positive (1)

PIK3CA E542K + HR positive (1)

PIK3CA amplification + PIK3CA mutation + HR positive (1)

PIK3CA exon 7 mutation + HR positive (1)

PIK3CA exon 9 mutation + HR positive (1)

PIK3CA mutation + ESR1 wild-type (1)

PIK3CA mutation + HR positive + HER-2 negative (1)

PIK3CA wild-type+ ESR1 wild-type (1)

PTEN mutation + HR positive (1)

TP53 wild-type + ER positive (1)

ALK fusion + MYC amplification + CCND1 deletion + FGFR3 deletion (1)

ALK positive + MYC amplification + CCND1 deletion (1)

EGFR exon 19 deletion + CCND1 overexpression (1)

EGFR mutation + CCND1 expression + CDKN2A deletion (1)

AKT1 E17K + CTNNB1 G34R + ER Y537S + MSI-H (0)

ER negative + HER-2 positive + PIK3CA H1047R (0)

ER positive + BRCA1 mutation (0)

ER positive + BRCA2 mutation (0)

ER positive + HER-2 negative + ER mutation (0)

HR positive + HER-2 negative + TMB-L (0)

PIK3CA mutation + ER negative + PGR positive (0)

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1year

Baseline genomic alterations and the activity of lasofoxifene (LAS) plus abemaciclib (Abema) in patients with ER+/HER2- metastatic breast cancer (mBC): the ELAINE 2 study (SABCS 2023)

Of the 29 patients (median age 60 yrs) enrolled, mutations in ESR1 were identified in 26 by Guardant360; all these 26 patients had received prior CDK4/6i, 21 (81%) prior fulvestrant, and 12 (46%) prior chemotherapy for mBC. Using Guardant360 ctDNA profiling from patients in ELAINE 2, we demonstrate that other baseline genomic alterations are frequently detected concurrently with mESR1 in the endocrine resistant setting, but without apparent compromise on the efficacy of LAS plus Abema. These results should be interpreted with caution considering the small numbers of patients and the exploratory nature of the analysis. The ELAINE 2 study suggests the potential of LAS plus Abema for treating ESR1-mutated, ER+/HER2- mBC in the post-CDK4/6i setting.

1 year ago

Clinical • Metastases

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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1)

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TP53 mutation • ER positive • HER-2 negative • PIK3CA mutation • FGFR1 amplification • ER mutation • CCND1 amplification • ESR1 mutation • ER positive + HER-2 negative • ER positive + ESR1 mutation + CCND1 amplification • ER positive + ESR1 mutation + FGFR1 amplification • ER positive + ESR1 mutation + PIK3CA mutation • ER positive + ESR1 mutation + TP53 mutation • CDK4 mutation

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Guardant360® CDx

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Verzenio (abemaciclib) • fulvestrant • Fablyn (lasofoxifene)