Changes

384 bytes added ,  14:29, 6 July 2018
no edit summary
Line 21: Line 21:  
==Cancer Category/Type==
 
==Cancer Category/Type==
   −
Put your text here
+
'''[http    ]
    
==Gene Overview==
 
==Gene Overview==
Line 31: Line 31:  
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
 
'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_t(8;21)(q22;q22.1);_RUNX1-RUNX1T1 Acute Myeloid Leukemia (AML)]'''
   −
The t(8;21)(q22;q22) (RUNXT1, RUNX1) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% (5)
+
The t(8;21)(q22;q22) (RUNXT1, RUNX1) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia with a reported incidence of 7% [5,7]
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 37: Line 37:  
! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  
 
! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  
 
|-
 
|-
| EXAMPLE: X ||EXAMPLE: X  || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X
+
| || ||  || || EXAMPLE: X || EXAMPLE: X
 
|}
 
|}
   Line 54: Line 54:  
'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
 
'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
   −
'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=runx1t1 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations
+
'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=runx1t1 ''RUNX1T1'' by COSMIC]''' - sequence information, expression, catalogue of mutations
    
'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
 
'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
   −
'''[https://pecan.stjude.cloud/proteinpaint/runx1t1 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.  
+
'''[https://pecan.stjude.cloud/proteinpaint/runx1t1 ''RUNX1T1'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.  
   −
'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=runx1t1 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
+
'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=runx1t1 ''RUNX1T1'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
   −
'''[http://www.cancerindex.org/geneweb/runx1t1.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
+
'''[http://www.cancerindex.org/geneweb/runx1t1.htm ''RUNX1T1'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
   −
'''[http://oncokb.org/#/gene/runx1t1 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
+
'''[http://oncokb.org/#/gene/runx1t1 ''RUNX1T1'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
   −
'''[https://www.mycancergenome.org/content/gene/runx1t1/ ''TP53'' by My Cancer Genome]''' - brief gene overview
+
'''[https://www.mycancergenome.org/content/gene/runx1t1/ ''RUNX1T1'' by My Cancer Genome]''' - brief gene overview
    
'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
 
'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
Line 72: Line 72:  
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
 
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
   −
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=runx1t1 ''TP53'' by GeneCards]''' - general gene information and summaries
+
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=runx1t1 ''RUNX1T1'' by GeneCards]''' - general gene information and summaries
    
'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
 
'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
Line 90: Line 90:  
5. Post SM. et al. (2015). Biology of Adult Myelocytic Leukemia and Myeldysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
 
5. Post SM. et al. (2015). Biology of Adult Myelocytic Leukemia and Myeldysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
   −
6. Taylor, J. et al. (2017). Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 130:410-423. PMID 28600336  doi: 10.1182/blood-2017-02-734541
+
6. Taylor, J. et al. (2017). Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 130:410-423. PMID 28600336  doi: 10.1182/blood-2017-02-734541.
 +
 
 +
7. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. Revised 4th Edition. IARC Press: Lyon, France, p140-141.
    
== Notes ==
 
== Notes ==
 
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
 
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
436

edits