KEGG   VARIANT: 25v1
Entry
25v1                      Variant                                  
Name
BCR-ABL1 fusion
Gene
ABL1  ABL proto-oncogene 1, non-receptor tyrosine kinase [KO:K06619]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
translocation t(9;22)(q34;q11)
COSF: 1756 1758 1783
Network
nt06210  ERK signaling
nt06214  PI3K signaling
nt06219  JAK-STAT signaling
nt06276  Chronic myeloid leukemia
  Element
N00002  BCR-ABL fusion kinase to RAS-ERK signaling pathway
N00048  BCR-ABL fusion kinase to PI3K signaling pathway
N00055  BCR-ABL fusion kinase to Jak-STAT signaling pathway
N10001  First-generation tyrosine kinase inhibitor to BCR-ABL fusion
Disease
H00004  Chronic myeloid leukemia
Drug target
Asciminib (DG03004): D11404<JP/US>
Imatinib (DG00710): D01441<JP/US>
Reference
PMID:15719031
  Authors
Ren R.
  Title
Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia.
  Journal
Nat Rev Cancer 5:172-83 (2005)
DOI:10.1038/nrc1567
Reference
PMID:10403855
  Authors
Faderl S, Talpaz M, Estrov Z, O'Brien S, Kurzrock R, Kantarjian HM.
  Title
The biology of chronic myeloid leukemia.
  Journal
N Engl J Med 341:164-72 (1999)
DOI:10.1056/NEJM199907153410306
Reference
PMID:12476301
  Authors
Salesse S, Verfaillie CM
  Title
BCR/ABL: from molecular mechanisms of leukemia induction to treatment of chronic myelogenous leukemia.
  Journal
Oncogene 21:8547-59 (2002)
DOI:10.1038/sj.onc.1206082
LinkDB

KEGG   VARIANT: 25v2
Entry
25v2                      Variant                                  
Name
First generation TKI-resistant ABL1 mutation
Gene
ABL1  ABL proto-oncogene 1, non-receptor tyrosine kinase [KO:K06619]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation T315I
ClinVar: 12624
dbSNP: rs121913456
COSM: 12614 12560
Variation
mutation Y253H
ClinVar: 12627
dbSNP: rs121913461
COSM: 12576
Variation
mutation E255K
ClinVar: 12626
dbSNP: rs387906517
COSM: 12573
Variation
mutation E255V
ClinVar: 12625
dbSNP: rs387906516
COSM: 12574
Network
nt06210  ERK signaling
nt06214  PI3K signaling
nt06219  JAK-STAT signaling
nt06276  Chronic myeloid leukemia
  Element
N00002  BCR-ABL fusion kinase to RAS-ERK signaling pathway
N00048  BCR-ABL fusion kinase to PI3K signaling pathway
N00055  BCR-ABL fusion kinase to Jak-STAT signaling pathway
N10002  Second/third-generation tyrosine kinase inhibitor to BCR-ABL fusion
Disease
H00004  Chronic myeloid leukemia
Drug target
Asciminib (DG03004): D11404<JP/US>
Bosutinib (DG00718): D09728<JP/US>
Dasatinib (DG00714): D06414<JP/US>
Nilotinib (DG00716): D06413<JP/US> D12444
Olverembatinib: D12175
Ponatinib (DG00722): D09951<JP/US>
Reference
PMID:17496200
  Authors
O'Hare T, Eide CA, Deininger MW
  Title
Bcr-Abl kinase domain mutations, drug resistance, and the road to a cure for chronic myeloid leukemia.
  Journal
Blood 110:2242-9 (2007)
DOI:10.1182/blood-2007-03-066936
LinkDB

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