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GENE:

ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1)

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Other names: ERC1, ELKS/RAB6-Interacting/CAST Family Member 1, ELKS, KIAA1081, RAB6IP2, ELKS/Rab6-Interacting/CAST Family Member 1, RAB6 Interacting Protein 2, MGC12974, CAST2, ERC-1, Rab6-Interacting Protein, Cast2
3ms
Characterization of RET fusions via integrated DNA and RNA sequencing in early-stage non-small cell lung cancer: a retrospective study. (PubMed, Transl Lung Cancer Res)
Our findings underscore the complexity of RET fusion characterization and the necessity for a comprehensive diagnostic approach, which enhances the identification of both canonical and noncanonical alterations. This supports precision oncology initiatives aimed at optimizing treatment outcomes for RET+ NSCLC patients.
Retrospective data • Journal
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RET (Ret Proto-Oncogene) • KIF5B (Kinesin Family Member 5B) • CCDC6 (Coiled-Coil Domain Containing 6) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1)
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RET fusion
8ms
Altering the biophysical properties of ERC1/ELKS-driven condensates interferes with cell motility. (PubMed, Commun Biol)
Although the interactions of ERC1ΔN with partners were unaffected, the biophysical properties of ERC1ΔN condensates were altered, with consequences on cell motility. These findings highlight the importance of ERC1/ELKS to assemble functional networks, and show that altering the properties of ERC1-driven condensates interferes with tumor cell motility.
Journal
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ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1)
10ms
Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci. (PubMed, Hum Mol Genet)
Further multi-step functional analyses shed light on biological mechanisms underlying these associations of lung cancer in this population. Our study highlights the importance of ancestry-specific studies for the potential alleviation of lung cancer burden in African Americans.
Journal
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ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • TRIP13 (Thyroid Hormone Receptor Interactor 13)
11ms
RAF1-rearranged spindle cell neoplasm: a clinicopathological and molecular genetic study of six cases with review of the literature. (PubMed, Histopathology)
RAF1-rearranged spindle cell neoplasm encompasses a morphologically and molecularly diverse spectrum of mesenchymal tumours occurring in both children and adults. We describe an ileal lesion and two novel SPPL2A::RAF1 and ERC1::RAF1 fusions to further expand its clinicopathological and genetic spectrum.
Journal
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RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • CD34 (CD34 molecule) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • PTPRG (Protein Tyrosine Phosphatase Receptor Type G)
12ms
Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas. (PubMed, BJC Rep)
Our results establish the role of FGFR signalling in the genesis of UL.
Journal
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • FGFR (Fibroblast Growth Factor Receptor) • FGFR4 (Fibroblast growth factor receptor 4) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • HMGA2 (High mobility group AT-hook 2) • PLAG1 (PLAG1 Zinc Finger)
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FGFR2 mutation • FGFR2 fusion
1year
Clinical, morphologic and genomic findings in Spitz tumors with RET fusion: a series of 31 cases. (PubMed, Mod Pathol)
DNA and RNA sequencing detected several further genomic alterations, including POU2F3 overexpression in 3 highly pigmented lesions. Further studies are needed to confirm possible correlations between the microscopic features and a particular fusion partner (or additional genetic events) in RET-fused Spitz neoplasms.
Journal
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RET (Ret Proto-Oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KIF5B (Kinesin Family Member 5B) • CCND1 (Cyclin D1) • CCDC6 (Coiled-Coil Domain Containing 6) • LMNA (Lamin A/C) • NCOA4 (Nuclear Receptor Coactivator 4) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • POU2F3 (POU Class 2 Homeobox 3) • RREB1 (Ras Responsive Element Binding Protein 1)
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RET fusion
almost2years
Dual specificity kinase DYRK3 regulates cell migration by influencing the stability of protrusions. (PubMed, iScience)
Increasing levels of Liprin-α1 rescue the inhibitory effects of DYRK3 on cell spreading, suggesting that an equilibrium between Liprin-α1 and DYRK3 levels is required for lamellipodia stability and tumor cell motility. Our results show that DYRK3 is relevant to tumor cell motility, and identify a PMAP target of the kinase, highlighting a new mechanism regulating cell edge dynamics.
Journal
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ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1)
2years
Successful Crizotinib-targeted Therapy of Pediatric Unresectable ERC1::ALK Fusion Sarcoma. (PubMed, J Pediatr Hematol Oncol)
A novel ELKS/RAB6-interacting/CAST family member 1-unaligned ALK fusion infiltrative nonmetastatic low-grade sarcoma of the right hand of a 15-month-old male was treated with crizotinib, an ALK tyrosine kinase inhibitor as oral monotherapy, inducing complete radiographic and clinical resolution by 10 months and sustained response now over 12 months after elective discontinuation. Crizotinib can successfully be used to treat unresectable novel ALK fusion sarcomas.
Journal
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ALK (Anaplastic lymphoma kinase) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1)
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ALK fusion
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Xalkori (crizotinib)
almost3years
Genome-wide association study of African Americans reveals new susceptibility loci contributing to lung cancer and mechanisms of population-specific etiology (AACR 2023)
Our GWAS of lung cancer identified five novel genetic susceptibility associations and confirmed several variants on 15q25 and 19q13. Further works are required to elucidate the possible biological mechanisms underlying these associations among lung cancer and histological subtypes in African Americans.
Clinical
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ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • TRIP13 (Thyroid Hormone Receptor Interactor 13) • CYP1A1 (Cytochrome P450 Family 1 Subfamily A Member 1)
almost3years
Frequent EGFR exon 20 insertion in the so-called peripheral-type squamous cell neoplasm of uncertain malignant potential: a variant of bronchiolar adenoma or under-recognised entity? (PubMed, Histopathology)
PSCN-UMPs exhibited the proliferation of bland squamous cells accompanied by entrapped pneumocytes and frequent EGFR exon 20 insertions, which showed distinct features from BAs and SCCs. Recognition of this specific entity will help to expand the morphologic and molecular spectrum of peripheral lung squamous neoplasms.
Journal • EGFR exon 20
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • RET (Ret Proto-Oncogene) • MCL1 (Myeloid cell leukemia 1) • TTF1 (Transcription Termination Factor 1) • MECOM (MDS1 And EVI1 Complex Locus) • NKX2-1 (NK2 Homeobox 1) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha)
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KRAS mutation • EGFR mutation • BRAF mutation • RET fusion • EGFR exon 20 insertion • RET mutation • EGFR exon 20 mutation • NKX2-1 expression
3years
Frequent EGFR exon 20 Insertion in So-called “Peripheral-type Squamous Cell Papilloma”: A Variant of Bronchiolar Adenoma or Underrecognized Entity? (USCAP 2023)
W e described a series of peripherally located pulmonary neoplasm s , which are histologically characterized by papillary proliferation of bland squamous cell s accompanied by entrapped pneumocytes. W e proposed that these group of tumors show some distinct features from known BAs, which expand the morphologic and molecular spectrum of peripheral lung squamous differentiated neoplasms.
EGFR exon 20
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • RET (Ret Proto-Oncogene) • MCL1 (Myeloid cell leukemia 1) • TTF1 (Transcription Termination Factor 1) • MECOM (MDS1 And EVI1 Complex Locus) • NKX2-1 (NK2 Homeobox 1) • ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) • PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha)
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KRAS mutation • EGFR mutation • BRAF mutation • RET fusion • EGFR exon 20 insertion • RET mutation • EGFR exon 20 mutation • NKX2-1 expression