METHOD OF DETERMINING RISK OF 5-FLUOROURACIL TOXICITY

摘要

The invention provides an assay useful in predicting risk of 5-fluorouracil (FU) toxicity in a subject. The subject may be screened for the presence of at least one TYMS polymorphism and/or at least one DPYD polymorphism. Suitable TYMS and DPYD polymorphisms are provided. The presence of one or more of the polymorphisms indicates an increased risk of developing FU toxicity; a negative result may indicate a decreased risk of developing FU toxicity.

主权项

1. A method of screening for risk of 5-fluorouracil (FU) toxicity in a subject, comprising screening the subject for the presence of at least one polymorphism selected from:
a. a TYMS polymorphism selected from the group consisting of: 5′VNTR 2R/3R rs45445694, 3′UTR 6 bp ins-del rs16430 and rs2612091; and/or b. a DPYD polymorphism selected from the group consisting of: *2A rs3918290, 2846T>A rs67376798, rs12132152, rs12022243, rs7548189, p.Ala551Thr, and functionally equivalent variants thereof; wherein: ii. the presence of said at least one polymorphism indicates an increased risk of developing FU toxicity compared to a subject which does not possess said at least one polymorphism; and iii. a negative result indicates a decreased risk of developing FU toxicity compared to a subject which possesses said at least one polymorphism.