Journal article
ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure
JE Marum, DT Yeung, L Purins, J Reynolds, WT Parker, D Stangl, PPS Wang, DJ Price, J Tuke, AW Schreiber, HS Scott, TP Hughes, S Branford
Blood Advances | AMER SOC HEMATOLOGY | Published : 2017
Abstract
Scoring systems used at diagnosis of chronic myeloid leukemia (CML), such as Sokal risk, provide important response prediction for patients treated with imatinib. However, the sensitivity and specificity of scoring systems could be enhanced for improved identification of patients with the highest risk. We aimed to identify genomic predictive biomarkers of imatinib response at diagnosis to aid selection of first-line therapy. Targeted amplicon sequencing was performed to determine the germ line variant profile in 517 and 79 patients treated with first-line imatinib and nilotinib, respectively. The Sokal score and ASXL1 rs4911231 and BIM rs686952 variants were independent predictors of early m..
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Awarded by Australian Cancer Research Foundation
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council of Australia grants APP1059165 (T.P.H. and S.B.), APP1104425 (S.B.), APP1059165 and APP1023059 (H.S.S.), the Royal Adelaide Hospital Research Foundation, a scholarship from the Leukaemia Foundation of Australia and the AR Clarkson Foundation (D.T.Y.), and a postdoctoral fellowship from the Leukaemia Foundation of Australia/Cure Cancer Australia (W.T.P.). The Australian Cancer Research Foundation (ACRF) Cancer Genomics Facility was established with funding from Therapeutic Innovation Australia and the ACRF.