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Detection of relevant pharmacogenetic information through exome sequencing in oncology: Supplementary tables

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posted on 2022-08-31, 08:58 authored by Simon Verdez, Juliette Albuisson, Yannis Duffourd, Romain Boidot, Manon Reda, Christel Thauvin-Robinet, Jean-David Fumet, Sylvain Ladoire, Sophie Nambot, Patrick Callier, Laurence Faivre, François Ghiringhelli, Nicolas Picard

Background: Germline sequencing of individual genomes can detect alleles responsible for adverse drug

reactions (ADRs) in relation to chemotherapy, targeted agents, antiemetics or pain treatment. Materials

& methods: To evaluate the interest of such pharmacogenetic information, the authors retrospectively

analyzed genes known to have an impact on cancer therapy in a cohort of 445 solid cancers patients.

Results: Six patients treated with 5-fluorouracil carrying one DPYD variant classified as 1A showed

decreased drug mean clearance (p = 0.01). Regarding CYP2D6, all patients (n = 5) with predicted CYP2D6

poor or ultra-rapid metabolizer status experienced adverse drug reactions related to opioid therapy.

Conclusion: Genomic germline sequencing performed for theragnostic issues in patients with a solid

tumor, can provide relevant information about common pharmacogenetic alleles.


This work was supported by grants from Dijon University Hospital, the ISITE-BFC (PIA ANR) and the European Union through the FEDER programs.


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