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==Common Alteration Types==

==Common Alteration Types==

A reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus) produces the Philadelphia chromosome t(9;22)(q34.1;q11.2), which is prevalent in Chronic Myeloid Leukemia (1, 2) and to a lesser extent in B-cell Acute Lymphoblastic Leukemia and T-cell Acute Lymphoblastic Leukemia. The head to tail arrangement of the BCR-ABL1 fusion gene results in an activated tyrosine kinase activity. A number of other gene fusion partners have been identified with ABL1 and linked to other hematological cancers, but at a much smaller prevalence than BCR-ABL1. They include NUP214 (associated with T-cell Acute Lymphoblastic Leukemia), ETV6 (associated with Chronic Myeloid Leukemia, T-cell Acute Lymphoblastic Leukemia, B-cell Acute Lymphoblastic Leukemia and Acute Myeloid Leukemia), and EML (associated with T-cell Acute Lymphoblastic Leukemia).

By far the most common mutation associated wiht cancer is the BCR-ABL1 fusion, a reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus) produces the Philadelphia chromosome t(9;22)(q34.1;q11.2), which is prevalent in Chronic Myeloid Leukemia (1, 2) and to a lesser extent in B-cell Acute Lymphoblastic Leukemia and T-cell Acute Lymphoblastic Leukemia. The head to tail arrangement of the BCR-ABL1 fusion gene results in an activated tyrosine kinase activity.  

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. Somatic mutations for ABL1 have been found in Lung Squamous Cell Carcinomas patients (2%), Uterine Corpus Endometrioid Carcinoma patients (3%) and in less than 1% of patients with Breast Invasive Carcinoma, Ovarian Serous Cystadenocarcinoma, and Lung Adenocarcinoma (6)

A number of other gene fusion partners have been identified with ABL1 and linked to other hematological cancers, but at a much smaller prevalence than BCR-ABL1.

 

NUP214-ABL1 (associated with T-cell Acute Lymphoblastic Leukemia).

 

ETV6-ABL1 (associated with Chronic Myeloid Leukemia, T-cell Acute Lymphoblastic Leukemia, B-cell Acute Lymphoblastic Leukemia and Acute Myeloid Leukemia), and EML (associated with T-cell Acute Lymphoblastic Leukemia).

 

Somatic mutations for ABL1 have been found in Lung Squamous Cell Carcinomas patients (2%), Uterine Corpus Endometrioid Carcinoma patients (3%) and in less than 1% of patients with Breast Invasive Carcinoma, Ovarian Serous Cystadenocarcinoma, and Lung Adenocarcinoma (6)

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