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BIOMARKER:

BRCA1 fusion

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
Entrez ID:
Related biomarkers:
Associations
Trials
2ms
Prevalence of actionable genomic alterations (GA) and predictive value of tumor mutational burden (TMB) for immune checkpoint inhibitor (ICI) effectiveness in HR(+)HER2(-) metastatic breast cancer (MBC) (SABCS 2024)
Background: Pembrolizumab, an anti-PD1 antibody ICI is an FDA-approved option for patients with HR(+)HER2(-) MBC who have exhausted standard of care options and have high TMB (≥10 mut/mb, FoundationOne®CDx)... About 70% of TBx harbor at least one GA with established clinical utility. Pts with TMB10+ vs. TMB<10 had more favorable PFS and rwOS on ICI.
Checkpoint inhibition • Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PALB2 (Partner and localizer of BRCA2) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRCA2 mutation • BRCA1 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • HRD • PALB2 mutation • HRD + BRCA1 mutation • AKT1 mutation • HRD signature • BRCA1 fusion
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FoundationOne® CDx
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Keytruda (pembrolizumab)
over1year
Associating BRCA1 hypermethylation with clinicopathological and molecular variables in triple-negative breast cancers (ESMO 2023)
109 had chemotherapy (>90% with sequential epirubicin + cyclophosphamide and a taxane, EC–T) according to national guidelines either as NAC (32%) or adjuvant (68%) therapy. Conclusions BRCA1met is associated with young age in TNBC but hold no predictive nor prognostic value in this patient cohort. We observe a difference in BRCA1met patterns and BRCA1 mRNA expression in NAC patients with RD that may potentially be related to treatment resistance.
Clinical • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability)
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BRCA1 expression • BRCA1 hypermethylation • BRCA1 fusion
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Prosigna™ Breast Cancer Prognostic Gene Signature Assay
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cyclophosphamide • epirubicin
almost3years
DNA damage response gene mutations and their association with PD-L1 expression in sarcoma and bone tumor (AACR 2022)
PD-L1 testing was not performed in other 2 cases.Conclusion Our results showed that a proportion of sarcoma and bone tumor patients carried DDR gene mutations, especially in pediatric and adolescent osteosarcoma patients.The majority of sarcoma and bone tumor patients with DDR gene mutations in this cohort were PD-L1 positive. Since DDR gene mutation was associated with favorable response rate to ICIs, patients with DDR gene mutated sarcoma and bone tumor may benefit from ICIs therapy.
PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CCND3 (Cyclin D3) • OXCT1 (3-Oxoacid CoA-Transferase 1)
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PD-L1 expression • TP53 mutation • BRCA1 mutation • MSI-H/dMMR • PTEN mutation • STK11 mutation • PD-L1 negative • BRCA1 fusion
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PD-L1 IHC 22C3 pharmDx
4years
[VIRTUAL] Initial Tertiary Reporting Results from Personalize My Treatment (PMT): A Pan-Canadian Initiative Integrating Precision Oncology across Canada: PMT-001 Pilot Project (AMP 2020)
The profiling pilot of the PMT initiative shows how strong foundations within the Exactis pan-Canadian network and streamlined NGS testing and reporting are resulting in fast, high quality and meaningful molecular data for Canadian cancer patients.
BRCA Biomarker
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KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • EML4 (EMAP Like 4) • KIF5B (Kinesin Family Member 5B) • RSPO2 (R-Spondin 2)
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TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • MET exon 14 mutation • KIF5B-RET fusion • BRCA1 fusion
4years
Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey. (PubMed, BMC Cancer)
These findings provide an overview of the distinct characteristics and clinical outcomes of male patients with BRCA-associated tumors, suggesting the importance of further genetic BRCA testing in males.
Clinical • Journal • BRCA Biomarker • Pan Tumor
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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 • BRCA1 fusion