Title |
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis
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Published in |
BMC Genomics, January 2016
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DOI | 10.1186/s12864-016-2370-6 |
Pubmed ID | |
Authors |
Ruty Mehrian-Shai, Michal Yalon, Itai Moshe, Iris Barshack, Dvorah Nass, Jasmine Jacob, Chen Dor, Juergen K. V. Reichardt, Shlomi Constantini, Amos Toren |
Abstract |
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. 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. 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. |
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Demographic breakdown
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
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India | 1 | 3% |
Unknown | 30 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 5 | 16% |
Researcher | 5 | 16% |
Student > Ph. D. Student | 5 | 16% |
Student > Bachelor | 3 | 10% |
Student > Master | 3 | 10% |
Other | 2 | 6% |
Unknown | 8 | 26% |
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Immunology and Microbiology | 1 | 3% |
Other | 2 | 6% |
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