CYP2D6 genotyping and the clinical impact on outcomes in breast cancer tamoxifen-treated patients

Author:

Ramírez Gabriel1,Vital Marcelo1,Vergara Carolina2,Carusso Florencia2,Neffa Florencia2,Valle Adriana Della2,Esperón Patricia12ORCID

Affiliation:

1. Molecular Genetic Unit, School of Chemistry, Universidad de la República, Montevideo, 11800, Uruguay

2. Grupo Colaborativo Uruguayo, Dirección Nacional de Sanidad de las Fuerzas Armadas, Montevideo, 11600, Uruguay

Abstract

Aims: To report the distribution of allele frequencies of CYP2D6 gene and to evaluate their influence on the clinical outcomes of a group of breast cancer patients receiving adjuvant tamoxifen treatment from Uruguay. Patients & methods: 199 samples were genotyped through real-time polymerase chain reaction assays. Metabolization profiles were inferred from the genotypes. Correlations were evaluated using Pearson's χ2 test. Results: Phenotype frequencies were 0.65 normal (NM), 0.30 intermediate (IM) and 0.05 poor metabolizers (PM). Similar clinical outcomes between NM and (PM + IM) patient groups (odds ratio = 1.011, 95% CI = 0.2703–3.7826; p = 0.987) were found. Conclusion: CYP2D6 allele frequencies were analyzed for the first time in a cohort from Uruguay. Results did not support any impact of CYP2D6 gene polymorphisms on clinical outcomes.

Publisher

Future Medicine Ltd

Subject

Pharmacology,Molecular Medicine,General Medicine

Reference25 articles.

1. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries

2. Comisión honoraria de lucha contra el Cáncer. Registro Nacional de Cáncer. Situación Epidemiológica Del Uruguay En Relación al Cáncer (2022). www.comisioncancer.org.uy/Ocultas/Situacion-Epidemiologica-del-Uruguay-en-relacion-al-Cancer-Mayo-2022-uc108

3. Selective estrogen receptor modulation

4. Mechanisms of tamoxifen resistance

5. The Tamoxifen Metabolite, Endoxifen, Is a Potent Antiestrogen that Targets Estrogen Receptor α for Degradation in Breast Cancer Cells

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