Changes

A few examples are shown below.

A few examples are shown below.

"The protein encoded by ''RUNX1'' can bind the protein encoded by ''CBFB'' to form "Core Binding Factor", a hetero-dimeric transcription factor which regulates a number of genes responsible for hematopoiesis and osteogenesis [2].  Runx1 protein can bind to DNA as a monomer through the Runt domain within the Runx1 protein.  ''RUNX1'' is the most frequent target for chromosomal translocation in leukemia [1]. Alterations of ''RUNX1'' are typically loss-of-function or decreased function, and  are considered "secondary driver mutations" (disease progression) in sporadic leukemias [2]; however, germline ''RUNX1'' mutations contribute to a lifetime risk for myeloid malignancy of about 44% [2].  ''RUNX1'' mutations (loss-of-function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects and increased inflammation [2].  ''RUNX1'' mutations are associated with gene mutations in ''ASXL1'', ''MLLPTD'', and ''IDH1''/''IDH2'', and are mutually exclusive with ''NPM1'' mutations [3].  Non-complex ''RUNX1'' mutations were found to be associated with resistance to chemotherapy, decreased disease free survival (DFS), event free survival (EFS) and overall survival (OS) [3]."

"The protein encoded by ''RUNX1'' can bind the protein encoded by ''CBFB'' to form "Core Binding Factor", a hetero-dimeric transcription factor which regulates a number of genes responsible for hematopoiesis and osteogenesis [2].  Runx1 protein can bind to DNA as a monomer through the Runt domain within the Runx1 protein.  ''RUNX1'' is the most frequent target for chromosomal translocation in leukemia [1]. Alterations of ''RUNX1'' are typically loss-of-function or decreased function, and  are considered "secondary driver mutations" (disease progression) in sporadic leukemias [2]; however, germline ''RUNX1'' mutations contribute to a lifetime risk for myeloid malignancy of about 44% [2].  ''RUNX1'' mutations (loss-of-function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects and increased inflammation [2].  ''RUNX1'' mutations are associated with gene mutations in ''ASXL1'', ''MLLPTD'', and ''IDH1''/''IDH2'', and are mutually exclusive with ''NPM1'' mutations [3].  Non-complex ''RUNX1'' mutations were found to be associated with resistance to chemotherapy, decreased disease free survival (DFS), event free survival (EFS) and overall survival (OS) [3]."

The ''ABL1'' gene encodes a non-receptor tyrosine kinase that is ubiquitously expressed and involved in a large number of cellular processes (see '''[https://www.ncbi.nlm.nih.gov/gene/25#reference-sequences "NCBI Gene]''').  By far the most prevalent ''ABL1'' alteration associated with cancer are the fusions of the ''ABL1'' gene with a number of partners, but especially with the ''BCR'' gene in CML [1,2] and to a lesser extent in B-ALL and T-ALL.  The head to tail arrangement of the BCR-ABL1 fusion gene results in an activated tyrosine kinase activity [6].  It appears that the N-terminal domain of ''BCR'' can cause oligomerization of the BCR-ABL1 protein product, thus activating the ''ABL1'' tyrosine kinase domain of the fusion protein [6,10,11].  The ''ABL1'' and ''ABL2'' genes encode tyrosine kinases which share overlapping physiological roles, and ''ABL2'' somatic or amplification mutations are more common than similar mutations in ''ABL1'' [6].  See the '''[http://www.ccga.io/index.php/BCR "BCR gene"]''' for additional details of the BCR-ABL1 gene fusion.

The ''ABL1'' gene encodes a non-receptor tyrosine kinase that is ubiquitously expressed and involved in a large number of cellular processes (see '''[https://www.ncbi.nlm.nih.gov/gene/25#reference-sequences "NCBI Gene]''').  By far the most prevalent ''ABL1'' alteration associated with cancer are the fusions of the ''ABL1'' gene with a number of partners, but especially with the ''BCR'' gene in CML [1,2] and to a lesser extent in B-ALL and T-ALL.  The head to tail arrangement of the BCR-ABL1 fusion gene results in an activated tyrosine kinase activity [6].  It appears that the N-terminal domain of ''BCR'' can cause oligomerization of the BCR-ABL1 protein product, thus activating the ''ABL1'' tyrosine kinase domain of the fusion protein [6,10,11].  The ''ABL1'' and ''ABL2'' genes encode tyrosine kinases which share overlapping physiological roles, and ''ABL2'' somatic or amplification mutations are more common than similar mutations in ''ABL1'' [6].  See the '''[http://www.ccga.io/index.php/BCR "BCR gene"]''' for additional details of the BCR-ABL1 gene fusion.

==== 4. CANCER CATEGORY/TYPE Section ====

==== 4. CANCER CATEGORY/TYPE Section ====

 

NOTE:  this section crosses over into the "Disease Pages" in CCGA, and is meant to be a short summary or introduction to the information that is already on the Disease information pages, or will be written there in the future.  This section is to be a list of cancer types important to CCGA, and for the most part, already created cancer disease pages in CCGA.  As you read journal articles and abstracts from Pubmed and content in "World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues" and OMIM, you should be filling in content on this section.  As you come across cancer types that are associated with YGI, you should search CCGA for those diseases (or subclasses of disease) and read the content there.  You should link YGI to the Disease page in CCGA (see examples, below).  You may be able to summarize the content you have found in CCGA disease pages.  The extent of the content should be a short paragraph for each cancer type (1-7 sentences).  The content should include:  the frequency of YGI mutations or fusion genes associated to patients with that specific disease, whether the mutation is a common mutation in that specific disease (if it is uncommon, you are likely NOT to reference that fact), interesting information having to do with drugs, therapy, prognosis and/or outcome.  In some cases, you will find that some CCGA Diseases/Cancer Types have not yet been created.  Please do NOT create a disease page.  Instead, create a new sub heading and write the content in that new section. As CCGA grows, we will add new Diseases/Cancer types and link to the Gene pages later (see example of CML, below).

 

 

NOTE:  this section crosses over into the "Disease Pages" in CCGA, and is meant to be a short summary or introduction to the information that is already on the Disease information pages, or will be written there in the future.  This section is to be a list of cancer types important to CCGA, and for the most part, already created cancer disease pages in CCGA.  The extent of the content should be a short paragraph for each cancer type.  The content should include:  the frequency of YGI mutations or fusion genes associated to patients with that specific disease, whether the mutation is a common mutation in that specific disease (if it is uncommon, you are likely NOT to reference that fact), interesting information having to do with drugs, therapy, prognosis and/or outcome.

The example of RUNX1 is shown below.

The example of RUNX1 is shown below.

Germline mutations of ''RUNX1'' have been reported in the rare autosomal dominant Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) [8].

Germline mutations of ''RUNX1'' have been reported in the rare autosomal dominant Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) [8].

==== 7. INTERNAL PAGES Section ====

==== 7. INTERNAL PAGES Section ====