التفاصيل البيبلوغرافية
| العنوان: |
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. |
| المؤلفون: |
Mehrian-Shai, Ruty, Yalon, Michal, Moshe, Itai, Barshack, Iris, Nass, Dvorah, Jacob, Jasmine, Dor, Chen, Reichardt, Juergen K. V., Constantini, Shlomi, Toren, Amos |
| المصدر: |
BMC Genomics; 1/14/2016, Vol. 17, p1-11, 11p, 1 Diagram, 3 Charts, 6 Graphs |
| مستخلص: |
Background: The genetic mechanisms underlying hemangioblastoma development are still largely unknown. We used high-resolution single nucleotide polymorphism microarrays and droplet digital PCR analysis to detect copy number variations (CNVs) in total of 45 hemangioblastoma tumors. Results: We identified 94 CNVs with a median of 18 CNVs per sample. The most frequently gained regions were on chromosomes 1 (p36.32) and 7 (p11.2). These regions contain the EGFR and PRDM16 genes. Recurrent losses were located at chromosome 12 (q24.13), which includes the gene PTPN11. Conclusions: Our findings provide the first high-resolution genome-wide view of chromosomal changes in hemangioblastoma and identify 23 candidate genes: EGFR, PRDM16, PTPN11, HOXD11, HOXD13, FLT3, PTCH, FGFR1, FOXP1, GPC3, HOXC13, HOXC11, MKL1, CHEK2, IRF4, GPHN, IKZF1, RB1, HOXA9, and micro RNA, such as hsa-mir-196a-2 for hemangioblastoma pathogenesis. Furthermore, our data implicate that cell proliferation and angiogenesis promoting pathways may be involved in the molecular pathogenesis of hemangioblastoma. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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