ABL1 gene c.944C>T [Presence] in Blood or Marrow by Molecular genetics method

ABL1 c.944C>T Bld/Mar Ql

Definition

Detection of the single-point mutation, T315I, in the ABL1 gene within the BCR-ABL1 fusion transcript. Early detection of T315I mutation in patient's with chronic myeloid leukemia (CML) could inform alternative treatment before resistance is detected cytogenetically or before disease progression become evident. Mutations in the kinase domain of the BCR-ABL1 fusion are the leading cause of acquired imatinib resistance. Although mutations have been identified in more than 30 different amino acids, the highest degree of resistance is found to be associated with the T315I mutation.

ABL; ABL proto-oncogene 1, non-receptor tyrosine kinase; ABL1 c.944C>T; bcr/abl; Bld/Mar; Blood; BM; BON; Bone marrow; c-ABL; c-ABL1; CHDSKM; Chronic myeloid leukemia; Genetics; Heredity; Heritable; Inherited; JTK7; MAR; Marrow (bone); minimal angle of resolution; Minimum angle of resolution; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; NM_005157.6(ABL1):c.944C>T (p.Thr315Ile); Ordinal; p150; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; T prime; T315I; v-abl; v-abl Abelson murine leukemia viral oncogene homolog 1; WB; Whole blood; Whole blood or Bone marrow

7 further terms