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The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation , t(9;22)(q34;q11), of genetic material between chromosome 9 and ...
It is a type of myeloproliferative neoplasm associated with a characteristic chromosomal translocation called the Philadelphia chromosome. CML is largely treated with targeted drugs called tyrosine-kinase inhibitors (TKIs) which have led to dramatically improved long-term survival rates since 2001. These drugs have revolutionized treatment of ...
David A. Hungerford (1927–1993) was an American cancer researcher and co-discoverer of the Philadelphia chromosome. [1] This discovery was the first association between a genetic abnormality and a type of cancer, [2] and it changed the direction of cancer research and paved the way for the development of targeted cancer therapies.
The unregulated expression of this protein activates other proteins that are involved in cell cycle and cell division which can cause a cell to grow and divide uncontrollably (the cell becomes cancerous). As a result, the Philadelphia Chromosome is associated with Chronic Myelogenous Leukemia (as mentioned before) as well as other forms of ...
The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]
The breakpoint cluster region protein (BCR) also known as renal carcinoma antigen NY-REN-26 is a protein that in humans is encoded by the BCR gene. BCR is one of the two genes in the BCR-ABL fusion protein, which is associated with the Philadelphia chromosome.
1960 Discovery of the Philadelphia chromosome, the first genetic abnormality associated with a human cancer, by David Hungerford of the Fox Chase Cancer Center and Peter Nowell of the University of Pennsylvania. [28]
Philadelphia chromosomes are common in myeloid leukemia cells. After its discovery, subsequent experiments have resulted in the HAP1 cell line. HAP1 has lost the extra copy of chromosome 8 and has a fragment of chromosome 15 that is about 30-megabases long and encompasses about 330 genes. [4] It is attached to the long arm of Chromosome 19.