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Utility of CYP2D6 copy number variants as prognostic biomarker in localized anal squamous cell carcinoma.

Lucía Trilla-FuertesAngelo Gámez-PozoMiguel NoguéIsabel BusquierFernando AriasFernando López-CamposAna Fernández MontesAna RuizConcepción VelázquezCelia Martín-BravoElisabeth Perez-RuizElena AsensioXavier Hernández-YagüeAline RodriguesIsmael GhanemRocío López-VacasAhmed HafezPedro AriasIrene DapíaMario SolísAntje DittmannRicardo RamosCarlos LlorensJoan MaurelÁngel Campos-BarrosJuan Ángel Fresno VaraJaime Feliú-Batlle
Published in: Cancer (2023)
Anal squamous cell carcinoma is an infrequent tumor whose treatment has not been changed since the 1970s. However, disease-free survival in late staged tumors is between 40% and 70%. The presence of an alteration in the number of copies of CYP2D6 gene is a biomarker of worse disease-free survival. The analysis of the proteins in these high-risk patients pointed out mitochondria and mitochondrial cell-cycle genes as possible therapeutic targets. Therefore, the determination of the number of copies of CYP2D6 allows the identification of anal squamous carcinoma patients with a high-risk of relapse that could be redirected to a clinical trial. Additionally, this study may be useful to suggest new treatment strategies to increase current therapy efficacy.
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