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GENE:

SCFD2 (Sec1 Family Domain Containing 2)

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Other names: SCFD2, Sec1 Family Domain Containing 2, STXBP1L1, Sec1 Family Domain-Containing Protein 2, FLJ39514, Syntaxin Binding Protein 1-Like 1, Syntaxin-Binding Protein 1-Like 1
Associations
Trials
2years
AML with t(4; 12)(q12; p13): A Detailed Genomic and Transcriptomic Analysis Reveals Genomic Breakpoint Heterogeneity, Absence of Pdgfra Fusion Transcripts and Presence of Pdgfra Overexpression in a Subset of Cases (ASH 2023)
Analysis of AML with t(4; 12)(q12; p13) translocation by WGS and WTS provides detailed information that separates two subsets distinguished by distinct breakpoint cluster regions on 4q12 and PDGFRA gene expression. The clinical impact of increased PDGFRA gene expression on response to TKI and prognosis as well as the presence of additional fusion transcripts has to be evaluated in further studies.
Clinical • Omic analysis
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BCR (BCR Activator Of RhoGEF And GTPase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ASXL1 (ASXL Transcriptional Regulator 1) • ETV6 (ETS Variant Transcription Factor 6) • ADAMTS3 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3) • SCFD2 (Sec1 Family Domain Containing 2)
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ASXL1 mutation • PDGFRA mutation • PDGFRA overexpression • PDGFRA fusion
over2years
Hypereosinophilic Syndrome with Endomyocarditis: Identification by Next-Generation Sequencing of the JAK2-V617F Mutation. (PubMed, Eur J Rheumatol)
The JAK2 point mutation leads to aberrant tyrosine phosphorylation and increased cytokine activation. The case demonstrates the complexity and challenging nature of advanced diagnostic opportunities in hypereosinophilia and the potential use, in select subsets, of targeted treatments such as tyrosine kinase inhibitors.
Journal • Next-generation sequencing
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FLT3 (Fms-related tyrosine kinase 3) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • JAK2 (Janus kinase 2) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CALR (Calreticulin) • SCFD2 (Sec1 Family Domain Containing 2)
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JAK2 V617F • JAK2 mutation • CALR mutation
over2years
Identification of long noncoding RNAs with aberrant expression in prostate cancer metastases. (PubMed, Endocr Relat Cancer)
In a cohort of prostatectomy-treated prostate tumors, four of the DE-lncRNAs showed association with progression-free time, and two of them (lnc-SCFD2-2, and lnc-R3HCC1L-8) were independent prognostic markers. Our study highlights several mCRPC-specific lncRNAs that might be important in the progression of the disease to the metastatic stage and may also serve as potential biomarkers for aggressive PCa.
Journal
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AR (Androgen receptor) • FOXA1 (Forkhead Box A1) • HOXB13 (Homeobox B13) • R3HCC1 (R3H Domain And Coiled-Coil Containing 1) • SCFD2 (Sec1 Family Domain Containing 2)