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| ==Cancer Category/Type== | | ==Cancer Category/Type== |
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− | This ETV6 gene, either as a translocation partner with dozens of partner genes or as simple substitution mutations is found at a low level in many cancers [https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]), but is more prominent as a fusion protein in a number of hematological malignancies [1, 2, [http://www.omim.org/entry/600618 see OMIM]]. | + | This ''ETV6'' gene, either as a translocation partner with dozens of partner genes or as simple substitution mutations is found at a low level in many cancers [https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]), but is more prominent as a fusion protein in a number of hematological malignancies [1,2,[http://www.omim.org/entry/600618 see OMIM]]. |
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− | The translocation t(12;21)(p13;q22) ETV6-RUNX1 has been found in 25% of childhood B-cell acute lymphoblastic leukemia (B-ALL) , but are much less common (only 2%) in adult B-cell acute lymphoblastic leukemia (B-ALL) [2]. The ETV6-RUNX1 trans - | + | The t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion has been found in 25% of childhood B-cell acute lymphoblastic leukemia (B-ALL), but are much less common in adult B-ALL (only 2%) [2]. The fusion protein produced by the translocation confers a dominant negative effect on the normal RUNX1 protein, resulting in transcriptional activation become transcriptional repression (1,2]. The t(12;21) confers a favorable prognosis with cures seen in >90% of childhood B-ALL [1]. |
− | location produces a fusion protein that confers a dominant negative effect on the normal RUNX1 protein function (Transcriptional activation become transcriptional repression) (1, 2]. The ETV6-RUNXT1 translocation confers a favourable prognosis with cures
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− | seen in >90% of childhood B-ALL [1]. | |
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− | ETV6 fused with PDGFRB has been found in patients with [http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) 'chronic myelomonocytic leukemia] (Golub et al. (1994) and chronic myeloproliferative disorder Apperley et al. (2002). | + | ''ETV6'' fused with ''PDGFRB'' has been found in patients with [http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) 'chronic myelomonocytic leukemia] (Golub et al. (1994) and chronic myeloproliferative disorder Apperley et al. (2002). acute lymphocytic leukemia ETV6/RUNX1 Golub et al. (1995). The ETV6-PDGFRA fusion gene has been found in patients with chronic eosinophilic leukaemia (CEL), and these patients responded to low-dose imatinib [1]. |
− | acute lymphocytic leukemia ETV6/RUNX1 Golub et al. (1995). The ETV6-PDGFRA fusion gene has been found in patients with chronic eosinophilic leukaemia (CEL), and these patients responded to low-dose imatinib [1] | |
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| ==Gene Overview== | | ==Gene Overview== |