In vitro diagnosis of increased sensitivity to 5-fluorouracil, useful for assessing toxicity and adjusting doses in cancer patients, by detecting specific gene mutations and measuring uracil plasma concentration

摘要

In vitro method for diagnosing increased sensitivity to 5-fluorouracil (5FU) by performing at least two of the in vitro tests: (i) detecting presence/absence of mutations in the gene for dihydropyrimidine dehydrogenase (DPDH); (ii) measuring concentration of uracil (U) in plasma; and (iii) measuring the concentration ratio dihydrouracil (DHU):(U) in the plasma. These tests are done on one or more biological samples, at least one of which is blood. Independent claims are also included for the following: (1) the same in vitro method for diagnosing predisposition to develop toxicity when treated with 5FU; (2) in vitro method for evaluating the dose of 5FU for a particular patient, especially with cancer, using the results of tests (i) and (ii) above, optionally also (iii); and (3) diagnostic kit for the new method.