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    GENE:

    EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)

    i
    Other names: EMSY, EMSY Transcriptional Repressor BRCA2 Interacting, EMSY BRCA2 Interacting Transcriptional Repressor, BRCA2-Interacting Transcriptional Repressor EMSY, C11orf30, Chromosome 11 Open Reading Frame 30, Protein EMSY, GL002
    14d
    Genomic and clinicopathological characteristics of low oncotype recurrent score breast cancers with subsequent metastasis. (PubMed, Histopathology)
    Using real-world CGP of tumour tissue and ctDNA, we identified key molecular features associated with endocrine resistance in patients with low RS who later developed metastases. PIK3CA mutation and other ER group-related mutations contributed to the low RS. Tissue CGP provides baseline for interpreting ctDNA, and ctDNA monitoring PIK3CA, TP53, ESR1 and other pathogenic or driver mutations in the early course of low RS cases may represent an excellent non-invasive option for identifying targets and early intervention to prevent disease progression, though a large validation study is needed.
    Journal
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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) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • KMT2C (Lysine Methyltransferase 2C) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    TP53 mutation • HR positive • HER-2 negative • PIK3CA mutation • ESR1 mutation
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    Oncotype DX Breast Recurrence Score®Test
    27d
    Alterations in the transcriptional profile of genes in tumors as a prerequisite for personalization of treatment in breast cancer patients (PubMed, Arkh Patol)
    Comparative mRNA expression analysis confirms that a short preoperative course of aromatase inhibitors induces a more potent and uniform molecular response, characterized by profound suppression of proliferation and complete inhibition of estrogen-dependent signaling. Tamoxifen therapy is also effective but results in less pronounced suppression of key targets and, crucially, may be accompanied by early activation of the MYC oncogene, a potential marker for resistance development.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • BCL2 (B-cell CLL/lymphoma 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • FGFR4 (Fibroblast growth factor receptor 4) • BIRC5 (Baculoviral IAP repeat containing 5) • TYMS (Thymidylate Synthetase) • AURKA (Aurora kinase A) • FOXA1 (Forkhead Box A1) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha) • PTTG1 (PTTG1 Regulator Of Sister Chromatid Separation, Securin) • BAG1 (BAG Cochaperone 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • GATA3 (GATA binding protein 3) • KRT5 (Keratin 5) • MMP11 (Matrix Metallopeptidase 11) • MYBL2 (MYB Proto-Oncogene Like 2) • SFRP1 (Secreted frizzled related protein 1) • TMEM45B (Transmembrane Protein 45B) • ANLN (Anillin Actin Binding Protein) • CCNB1 (Cyclin B1) • SCGB2A2 (Secretoglobin Family 2A Member 2) • ZNF703 (Zinc Finger Protein 703)
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    HER-2 negative • HER-2 expression
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    tamoxifen • letrozole • anastrozole
    3ms
    Genomic insights and therapeutic efficacy of PARP inhibitors in a high-LOH patient-derived xenograft from malignant transformation of ovarian teratoma. (PubMed, Biochem Biophys Res Commun)
    These findings underscore the therapeutic potential of PARP inhibitors in high-LOH MTMCT while highlighting the emergence of resistance mechanisms, including CN-LOH and loss of EMSY amplification. They emphasize the importance of considering tumor evolution and treatment timing when interpreting CGP results, providing a foundation for further research into predictive biomarkers and resistance mechanisms in rare gynecologic malignancies.
    Journal • PARP Biomarker
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    STK11 (Serine/threonine kinase 11) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    STK11 mutation
    5ms
    EMSY enhances glycolysis in ovarian cancer cells. (PubMed, Eur J Med Res)
    Mechanistic studies revealed that EMSY interacts with β-catenin, and the knockdown of EMSY inhibits the transcriptional activation of LDHA by β-catenin. In summary, this study identifies EMSY's metabolic regulatory role in ovarian cancer cells and offers treatment of ovarian cancer with a new therapeutic target.
    Journal
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    LDHA (Lactate dehydrogenase A) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
    6ms
    Lurbinectedin in Patients With Advanced Gastrointestinal Malignancies With DNA Repair Mutations (clinicaltrials.gov)
    P2, N=8, Completed, HonorHealth Research Institute | Recruiting --> Completed | N=19 --> 8 | Trial completion date: Aug 2026 --> Aug 2025
    Trial completion • Enrollment change • Trial completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • CA 19-9 (Cancer antigen 19-9)
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    ATM mutation • PTEN mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation
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    Zepzelca (lurbinectedin)
    9ms
    Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)
    P1, N=44, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jun 2025 --> Jun 2026 | Trial primary completion date: Jun 2025 --> Jun 2026
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    ATM mutation • PALB2 mutation • CHEK2 mutation • CHEK1 mutation
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    Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)
    over1year
    Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)
    P1, N=44, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Jun 2024 --> Jun 2025 | Trial primary completion date: Jun 2024 --> Jun 2025
    Trial completion date • Trial primary completion date • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)
    over1year
    Phase I/Ib Study of Nivolumab & Veliparib in Patients With Advanced Solid Tumors & Lymphoma (clinicaltrials.gov)
    P1, N=15, Completed, Northwestern University | Active, not recruiting --> Completed
    Trial completion • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • ERCC2 (Excision repair cross-complementation group 2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • FANCC (FA Complementation Group C)
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    Opdivo (nivolumab) • veliparib (ABT-888)
    almost2years
    Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)
    P1, N=44, Recruiting, M.D. Anderson Cancer Center | Active, not recruiting --> Recruiting
    Enrollment open • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • RAD50 mutation • CHEK1 mutation • CHEK1 expression
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    Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)
    2years
    Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)
    P1, N=44, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting
    Enrollment closed
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • RAD50 mutation • CHEK1 mutation • CHEK1 expression
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    Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)
    2years
    Targeting EMSY-mediated methionine metabolism is a potential therapeutic strategy for triple-negative breast cancer. (PubMed, Cell Rep Med)
    Moreover, EMSY accumulation in TNBC cells sensitizes them to PARP inhibitors against bulk cells and methionine deprivation against CSCs. These findings indicate that clinically relevant eradication of CSCs could be achieved with a strategy that targets CSC-specific vulnerabilities in amino acid metabolism.
    Journal • BRCA Biomarker • PARP Biomarker
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    EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • KDM5B (Lysine Demethylase 5B)
    2years
    Histologic patterns in prostatic adenocarcinoma are not predictive of mutations in the homologous recombination repair pathway. (PubMed, Hum Pathol)
    Tumors with >20  % or >30  % histologic patterns by volume also demonstrated no significant association with mutational status. This study suggests that histopathologic examination alone is insufficient to distinguish prostate cancer with germline or somatic mutations in HRR pathway genes, highlighting the continuing importance of ancillary molecular diagnostics in guiding therapy selection for prostate cancer patients who may benefit from PARP inhibitors.
    Journal • BRCA Biomarker • PARP Biomarker
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    HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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    BRCA2 mutation • BRCA1 mutation • PALB2 mutation • CHEK1 expression