Article
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.
Genome medicine - 15 Aug 2024
Knikman Jonathan E, Zhai Qinglian, Lunenburg Carin A T C, Henricks Linda M, Böhringer Stefan, van der Lee Maaike, de Man Femke M, Offer Steven M, Shrestha Shikshya, Creemers Geert-Jan, Baars Arnold, Dezentjé Vincent O, Imholz Alexander L T, Jeurissen Frank J F, Portielje Johanna E A, Jansen Rob L H, Hamberg Paul, Droogendijk Helga J, Koopman Miriam, Nieboer Peter, van de Poel Marlène H W, Mandigers Caroline M P W, van Schaik Ron H N, Gelderblom Hans, Mathijssen Ron H J, Schellens Jan H M, Cats Annemieke, Guchelaar Henk-Jan, Swen Jesse J
Abstract excerpt
BACKGROUND: The Alpe-DPD study (NCT02324452) demonstrated that prospective genotyping and dose-individualization using four alleles in DPYD (DPYD*2A/rs3918290, c.1236G > A/rs75017182, c.2846A > T/rs67376798 and c.1679 T > G/rs56038477) can mitigate the risk of severe fluoropyrimidine toxicity. However, this could not prevent all toxicities. The goal of this study was to identify additional genetic variants, both...