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BIOMARKER:

HR positive + BRCA1 mutation

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Entrez ID:

2099; 5241; 672

Related biomarkers:

‹

PIK3CA mutation + HR positive (16)

PIK3CA mutation + ER positive (10)

HRD + BRCA1 mutation (7)

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)

BRCA1 mutation + TMB-H (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 + MYC amplification (2)

HR positive + TP53 mutation (2)

PIK3CA mutation + ER negative (2)

PTEN deletion + ER positive (2)

BRCA1 2080delA + CCNE1 overexpression (2)

BRCA1 mutation + HER-2 negative (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 + CCND1 amplification (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)

BAP1 negative + BRCA1 mutation (1)

BRCA1 hypermethylation (1)

BRCA1 mutation + AKR1C3 overexpression (1)

BRCA1 mutation + BRCA2 mutation + TMB-H (1)

BRCA1 mutation + PD-L1 expression (1)

BRCA1 mutation + RAD51B deletion (1)

BRCA1 mutation + RB1 deletion (1)

BRCA1 promoter methylation (1)

EGFR mutation + BRCA1 overexpression (1)

EGFR mutation + BRCA1 underexpression (1)

PTEN deletion + BRCA1 mutation (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)

HRD + BRCA1 mutation (7)

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)

BRCA1 mutation + TMB-H (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 + MYC amplification (2)

HR positive + TP53 mutation (2)

PIK3CA mutation + ER negative (2)

PTEN deletion + ER positive (2)

BRCA1 2080delA + CCNE1 overexpression (2)

BRCA1 mutation + HER-2 negative (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 + CCND1 amplification (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)

BAP1 negative + BRCA1 mutation (1)

BRCA1 hypermethylation (1)

BRCA1 mutation + AKR1C3 overexpression (1)

BRCA1 mutation + BRCA2 mutation + TMB-H (1)

BRCA1 mutation + PD-L1 expression (1)

BRCA1 mutation + RAD51B deletion (1)

BRCA1 mutation + RB1 deletion (1)

BRCA1 promoter methylation (1)

EGFR mutation + BRCA1 overexpression (1)

EGFR mutation + BRCA1 underexpression (1)

PTEN deletion + BRCA1 mutation (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

Germline mutation status of BRCA1/2 and other breast cancer predisposition genes as predictive and prognostic biomarker: Results of the GeparX study (GeparX-BRCA) (SABCS 2023)

The trial randomized 780 patients twice to a total of 4 treatment groups (to receive or not receive denosumab; to receive nab-paclitaxel 125 mg/m2 weekly for 12 weeks or days 1 and 8 every 3 weeks for 4 cycles, both followed by 4 cycles of epirubicin/cyclophosphamide, 90/600 mg/m2 every 2 weeks/every 3 weeks according to the investigator´s choice). Carboplatin was given in triple-negative breast cancer (TNBC), and trastuzumab biosimilar ABP980 plus pertuzumab was given in human epidermal growth factor-2-positive (HER2+) BC... Irrespective of the treatment arm, higher pCR rates were observed in BRCA1/2 mutations carriers vs non-carriers. Both BRCA1/2 mutation carriers and non-carriers benefitted most from weekly nab-paclitaxel. No pronounced effect was observed for denosumab in either group.

1 year ago

BRCA Biomarker

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HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)

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BRCA2 mutation • BRCA1 mutation • HR positive • HR positive + BRCA1 mutation

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carboplatin • Perjeta (pertuzumab) • albumin-bound paclitaxel • cyclophosphamide • epirubicin • Prolia (denosumab) • Kanjinti (trastuzumab-anns)