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    BIOMARKER:

    CCND1 amplification

    i
    Other names: CCND1, BCL1, D11S287E, PRAD1, U21B31, Cyclin D1
    Entrez ID:
    595
    Related biomarkers:
    Expression
    Mutation
    Others
    11ms
    Exploring the antiproliferative effect of PI3K/Akt/mTOR pathway and CDK4/6 inhibitors in human papillomavirus‑positive and ‑negative head and neck squamous cell carcinoma cell lines. (PubMed, Int J Oncol)
    The present study aimed to investigate the efficacy of the CDK4/6 inhibitors (CDKi) palbociclib and ribociclib, and the PI3K/Akt/mTOR pathway inhibitors (PI3Ki) gedatolisib, buparlisib and alpelisib, in suppressing cell viability of HPV‑positive and ‑negative HNSCC cell lines. Whereas PI3Ki induced apoptosis and attenuated cellular metabolism, CDKi led to cell cycle arrest. Further research should be performed to elucidate whether (a combination of) these inhibitors may be effective therapeutic agents for patients with HNSCC.
    Preclinical • Journal
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    PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • ANXA5 (Annexin A5)
    |
    CCND1 amplification • CDKN2A negative • MTOR mutation
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    Ibrance (palbociclib) • Piqray (alpelisib) • Kisqali (ribociclib) • gedatolisib (PF-05212384) • buparlisib (AN2025)
    12ms
    CDK4/6 Tumor, Abemaciclib, Paclitaxel (clinicaltrials.gov)
    P1/2, N=30, Completed, Yonsei University | Active, not recruiting --> Completed
    Trial completion • Pan tumor
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    CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6)
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    CCND1 amplification • CDK4 amplification • CCND1 mutation
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    paclitaxel • Verzenio (abemaciclib)
    1year
    Impact of CCND1 amplification on the prognosis of hormone receptor-positive, HER2-negative breast cancer patients-correlation of clinical and pathological markers. (PubMed, Breast Cancer Res Treat)
    CCND1 amplification is a recurring event in breast cancer, occurring most frequently in luminal B-like and HER2-amplified subtypes. A trend toward less favorable outcomes was observed among CCND1-amplified HR-positive, HER2-negative tumors.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • CCND1 (Cyclin D1)
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    HER-2 positive • HR positive • HER-2 amplification • HER-2 negative • CCND1 amplification • HR positive + HER-2 negative • HER-2 amplification + HR-positive
    1year
    Palbociclib and Pembrolizumab in Central Nervous System Metastases (clinicaltrials.gov)
    P2, N=45, Recruiting, Massachusetts General Hospital | N=30 --> 45 | Trial completion date: Sep 2025 --> Sep 2026 | Trial primary completion date: Sep 2024 --> Sep 2025
    Enrollment change • Trial completion date • Trial primary completion date
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3)
    |
    CCNE1 amplification • CCND1 amplification • CDK4 amplification
    |
    Keytruda (pembrolizumab) • Ibrance (palbociclib)
    1year
    ACQUIRED CYCLIN D AMPLIFICATION IS A MECHANISM FOR RESISTANCE TO CDK4/6 INHIBITORS IN DEDIFFERENTIATED LIPOSARCOMA (CTOS 2024)
    We reviewed demographic data, treatment histories, and overall response rates (ORR). We identified five patients with DDLPS who were treated with CDK4/6i, palbociclib and abemaciclib. In untreated WD/DD LPS, baseline alterations in cyclin D are rare. Our analysis revealed that three patients with DDLPS acquired either cyclin D1 or cyclin D2 amplification in progressing samples following treatment with CDK4/6i. Unlike breast cancer, where cyclin E1 amplification is a well-established driver of resistance to CDK4/6i, these findings suggest a potential role for cyclin D amplification in acquired resistance in LPS.
    PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • AURKA (Aurora kinase A) • CCND2 (Cyclin D2)
    |
    HR positive • HER-2 negative • CCNE1 amplification • RB1 mutation • CCND1 amplification • CCNE1 overexpression • CDK4 amplification • EGFR positive • MDM2 amplification + CDK4 amplification
    |
    MSK-IMPACT
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    Ibrance (palbociclib) • Verzenio (abemaciclib)
    1year
    Point mutations (PM), gene amplifications (GA) and variants of unknown significance (VUS) detected by next-generation sequencing (NGS) in a real-world sample of metastatic breast cancer (MBC) (SABCS 2024)
    NGS of real-world patients reveals a broad spectrum of genomic abnormalities in MBC. TP53 and PIK3CA associate with TNBC and luminal MBC, respectively. Mutations in tumor suppressors are mostly distinct since there are many ways to induce loss-of-function.
    Real-world evidence • Clinical • MSi-H Biomarker • Next-generation sequencing • Real-world • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • RB1 (RB Transcriptional Corepressor 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • KMT2D (Lysine Methyltransferase 2D) • CDK12 (Cyclin dependent kinase 12) • CDH1 (Cadherin 1) • FGF4 (Fibroblast growth factor 4) • AURKA (Aurora kinase A) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • LYN (LYN Proto-Oncogene Src Family Tyrosine Kinase) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • GNAS (GNAS Complex Locus) • CCND2 (Cyclin D2) • RAD21 (RAD21 Cohesin Complex Component) • KDM5A (Lysine Demethylase 5A) • ZNF217 (Zinc Finger Protein 217) • FGF23 (Fibroblast Growth Factor 23) • GATA3 (GATA binding protein 3) • ZNF703 (Zinc Finger Protein 703)
    |
    TP53 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • HER-2 expression • PIK3CA H1047R • FGFR1 amplification • CCND1 amplification • FGF3 amplification
    |
    Guardant360® CDx
    1year
    The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution. (PubMed, Nature)
    Experimental modelling of CCND1 ecDNA confirmed its role as a driver of treatment resistance. Our findings define fundamental mechanisms that drive urothelial cancer evolution and have important therapeutic implications.
    Journal
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    CCND1 (Cyclin D1)
    |
    CCND1 amplification
    1year
    Gastric-type extremely well-differentiated adenocarcinoma of the stomach: A rare tumor with diagnostic difficulties and high inter-observer variation in endoscopic pinch biopsies. (PubMed, Pathol Res Pract)
    In conclusion, it is challenging to diagnose EWDGA using biopsy specimens. Recognizing and addressing this rare entity will increase diagnostic accuracy to ensure the early diagnosis of cancer.
    Journal • Biopsy
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • STK11 (Serine/threonine kinase 11) • CCND1 (Cyclin D1) • MDM2 (E3 ubiquitin protein ligase)
    |
    TP53 mutation • KRAS mutation • BRAF mutation • STK11 mutation • CCND1 amplification • TP53 overexpression
    1year
    Study of Ribociclib and Everolimus in HGG and DIPG (clinicaltrials.gov)
    P2, N=100, Recruiting, Nationwide Children's Hospital | Not yet recruiting --> Recruiting
    Enrollment open
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CDK6 (Cyclin-dependent kinase 6) • CCND2 (Cyclin D2) • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C)
    |
    PIK3CA mutation • PTEN mutation • CDKN2A deletion • PIK3CA amplification • CCND1 amplification • CDK4 amplification • PIK3R1 mutation
    |
    everolimus • Kisqali (ribociclib)
    1year
    Clinicopathological characteristics and genetic features of young and senior Ewing sarcoma patients. (PubMed, Diagn Pathol)
    Clinicopathological characteristics and genetic features in young and senior EwS patients differed significantly. Targeting cell cycle dysregulation based on age subgroup may be a potential therapeutic strategy for Ewing sarcoma.
    Journal
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    CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • EWSR1 (EWS RNA Binding Protein 1) • STAG2 (Stromal Antigen 2) • ERG (ETS Transcription Factor ERG) • CHEK1 (Checkpoint kinase 1) • EPHA3 (EPH receptor A3) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • SLIT2 (Slit Guidance Ligand 2)
    |
    CCND1 amplification • CDK4 amplification • STAG2 mutation • CCND1 expression • EWSR1-FLI1 fusion • CCND1-H • EPHA3 mutation • CHEK1 expression
    1year
    Circulating tumor DNA (ctDNA) as a biomarker of response to therapy in advanced Hepatocellular carcinoma treated with Nivolumab. (PubMed, Cancer Biomark)
    ctDNA profiling may provide a benefit for prediction of survival and progression of HCC patients treated with nivolumab. Future studies are needed for confirmation.
    Journal • BRCA Biomarker • PD(L)-1 Biomarker • Circulating tumor DNA • Metastases
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CCND1 (Cyclin D1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    BRCA1 mutation • PIK3CA mutation • KIT mutation • CCND1 amplification • CTNNB1 mutation
    |
    Opdivo (nivolumab)
    1year
    p16 Immunohistochemical Patterns in Triple-Negative Breast Cancer: Clinical and Genomic Similarities of the p16 Diffuse Pattern to pRB Deficiency. (PubMed, Pathobiology)
    CCND1 amplification was identified in five cases, all with the negative/mosaic pattern In TNBC, the diffuse p16 pattern shows clinical and genomic similarities to pRB-deficient tumors, suggesting shared characteristics. This suggests that p16 IHC testing may provide new therapeutic approaches, underscoring its potential clinical importance.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1)
    |
    PIK3CA mutation • HRD • CCND1 amplification