Changes

55 bytes removed ,  09:42, 9 August 2018
Line 21: Line 21:  
==Cancer Category/Type==
 
==Cancer Category/Type==
   −
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]].
   −
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
  −
seen in >90% of childhood B-ALL [1].
     −
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]
      
==Gene Overview==
 
==Gene Overview==