Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant

Stable Identifier
R-HSA-2660825
Type
Pathway
Species
Homo sapiens
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Human NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The translocated gene was found to be homologous to Drosophila Notch, and was initially named TAN-1 (translocation-associated Notch homolog). Although the translocation t(7;9)(q34;q34.3) is present in a small percentage of T-ALL patients, the mutant protein is highly oncogenic and its overexpression causes T-ALL-like illness in mice (Pear et al. 1996).

Literature References
PubMed ID Title Journal Year
1831692 TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC, Smith, SD, Sklar, J

Cell 1991
8642337 Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles

Pear, WS, Aster, JC, Scott, ML, Hasserjian, RP, Soffer, B, Sklar, J, Baltimore, D

J. Exp. Med. 1996
Participants
Participant Of
Disease
Name Identifier Synonyms
T-cell leukemia 715
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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Created