Article
Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.
The Lancet. Oncology - 1 Dec 2015
Meulendijks Didier, Henricks Linda M, Sonke Gabe S, Deenen Maarten J, Froehlich Tanja K, Amstutz Ursula, Largiadèr Carlo R, Jennings Barbara A, Marinaki Anthony M, Sanderson Jeremy D, Kleibl Zdenek, Kleiblova Petra, Schwab Matthias, Zanger Ulrich M, Palles Claire, Tomlinson Ian, Gross Eva, van Kuilenburg André B P, Punt Cornelis J A, Koopman Miriam, Beijnen Jos H, Cats Annemieke, Schellens Jan H M
Abstract excerpt
BACKGROUND: The best-known cause of intolerance to fluoropyrimidines is dihydropyrimidine dehydrogenase (DPD) deficiency, which can result from deleterious polymorphisms in the gene encoding DPD (DPYD), including DPYD*2A and c.2846A>T. Three other variants-DPYD c.1679T>G, c.1236G>A/HapB3, and c.1601G>A-have been associated with DPD deficiency, but no definitive evidence for the clinical validity of these variants...
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