RGD Reference Report - Polymorphisms of ERCC1 genotype associated with response to imatinib therapy in chronic phase chronic myeloid leukemia. - Rat Genome Database

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Polymorphisms of ERCC1 genotype associated with response to imatinib therapy in chronic phase chronic myeloid leukemia.

Authors: Kong, JH  Mun, YC  Kim, S  Choi, HS  Kim, YK  Kim, HJ  Moon, JH  Sohn, SK  Kim, SH  Jung, CW  Dennis Kim, DH 
Citation: Kong JH, etal., Int J Hematol. 2012 Sep;96(3):327-33. doi: 10.1007/s12185-012-1142-6. Epub 2012 Jul 21.
RGD ID: 11252165
Pubmed: PMID:22821389   (View Abstract at PubMed)
DOI: DOI:10.1007/s12185-012-1142-6   (Journal Full-text)

DNA repair machinery may contribute to the mechanism of the action in imatinib. We examined the association between the single nucleotide polymorphism (SNP) markers involved in the DNA repair enzyme pathway (ERCC1/2/4/5, XRCC1/2/4/5) and the clinical outcomes following an imatinib therapy in chronic phase chronic myeloid leukemia (CML) patients. A total of 169 Korean patients were included. Of the 19 SNPs from these patients, those with the TT genotype of ERCC1 (rs11615) showed a higher probability of achieving major cytogenetic response [P = 0.002, HR 5.14 (95 % CI 1.83-14.43)], complete cytogenetic response [P = 0.012, HR 3.47 (95 % CI 1.31-9.17)], and major molecular response [P = 0.001, HR 5.71 (95 % CI 2.13-15.30)] than those with CC or CT genotypes. This suggests that SNP markers on ERCC1 may predict the response to imatinib therapy, which proposes the potential involvement of the DNA repair machinery in the mechanism of imatinib action in chronic phase CML.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ERCC1HumanMyeloid Leukemia, Chronic-Phase treatmentIAGP DNA:SNP: :rs11615 (human)RGD 
Ercc1RatMyeloid Leukemia, Chronic-Phase treatmentISOERCC1 (Homo sapiens)DNA:SNP: :rs11615 (human)RGD 
Ercc1MouseMyeloid Leukemia, Chronic-Phase treatmentISOERCC1 (Homo sapiens)DNA:SNP: :rs11615 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ERCC1HumanAbnormality of blood and blood-forming tissues treatmentIAGP DNA:SNP: :rs11615RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ercc1  (ERCC excision repair 1, endonuclease non-catalytic subunit)

Genes (Mus musculus)
Ercc1  (excision repair cross-complementing rodent repair deficiency, complementation group 1)

Genes (Homo sapiens)
ERCC1  (ERCC excision repair 1, endonuclease non-catalytic subunit)


Additional Information