Detection of relevant pharmacogenetic information through exome sequencing in oncology.

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Date publication

août 2022




Membres identifiés du Cancéropôle Est :
Dr BOIDOT Romain, Pr CALLIER Patrick, Pr GHIRINGHELLI François, Dr LADOIRE Sylvain, Pr FAIVRE Laurence, Dr NAMBOT Sophie, Dr FUMET Jean-David, Mr DUFFOURD Yannis

Tous les auteurs :
Verdez S, Albuisson J, Duffourd Y, Boidot R, Reda M, Thauvin-Robinet C, Fumet JD, Ladoire S, Nambot S, Callier P, Faivre L, Ghiringhelli F, Picard N


Germline sequencing of individual genomes can detect alleles responsible for adverse drug reactions (ADRs) in relation to chemotherapy, targeted agents, antiemetics or pain treatment. 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. Six patients treated with 5-fluorouracil carrying one variant classified as 1A showed decreased drug mean clearance (p = 0.01). Regarding , all patients (n = 5) with predicted poor or ultra-rapid metabolizer status experienced adverse drug reactions related to opioid therapy. Genomic germline sequencing performed for theragnostic issues in patients with a solid tumor, can provide relevant information about common pharmacogenetic alleles.

Mots clés

CYP2D6, DPYD, exome sequencing, oncology, pharmacogenetics


Pharmacogenomics. 2022 08 31;: