Design and implementation of a novel pharmacogenetic assay for the identification of the CYP2D6*10 genetic variant.
| Title: | Design and implementation of a novel pharmacogenetic assay for the identification of the CYP2D6*10 genetic variant. |
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| Authors: | Ranadeva NDK; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka. nadeeka@kiu.ac.lk.; Sirisena ND; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.; Wetthasinghe TK; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.; Noordeen N; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.; Dissanayake VHW; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka. |
| Source: | BMC research notes [BMC Res Notes] 2022 Mar 16; Vol. 15 (1), pp. 104. Date of Electronic Publication: 2022 Mar 16. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : Biomed Central, 2008. |
| MeSH Terms: | Cytochrome P-450 CYP2D6*/genetics ; Cytochrome P-450 CYP2D6*/metabolism ; Pharmacogenetics*; Antineoplastic Agents, Hormonal/metabolism ; Tamoxifen/therapeutic use ; Female ; Genotype ; Humans |
| Abstract: | Objectives: Tamoxifen is considered to be the most widely used adjuvant therapy for hormone receptor positive breast cancer in premenopausal women. However, it is reported that nearly 30% of patients receiving tamoxifen therapy have shown reduced or no benefits. This may be due to the high inter-individual variations in the CYP2D6 gene that is involved in tamoxifen metabolism. The CYP2D6*10 gene variant (rs1065852C>T) is reported to be commonly found in Asian and South Asian populations. The present study was undertaken to design a novel pharmacogenetic assay (Single step-Tetra Arms Polymerase Chain Reaction) for the identification of the CYP2D6*10 variant and implement the designed assay by genotyping a cohort of breast cancer patients.; Results: The novel assay was successfully designed, optimized and validated using Sanger sequencing. Blood samples from 70 patients were genotyped. The following bands were observed in the gel image: Control band at 454 bp; band for C allele at 195 bp; band for T allele at 300 bp. The genotype frequencies for the CYP2D6*10 (rs1065852C>T) variant were: CC-24.28% (17/70), CT-75.71% (53/70), TT-0% (0/70). The allele frequencies were: T-allele-37.86% and C-allele-62.14%.; (© 2022. The Author(s).) |
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| Contributed Indexing: | Keywords: Breast cancer; CYP2D6*10; Genotypes; Pharmacogenetics; Tamoxifen |
| Substance Nomenclature: | 0 (Antineoplastic Agents, Hormonal); 094ZI81Y45 (Tamoxifen); EC 1.14.14.1 (Cytochrome P-450 CYP2D6) |
| Entry Date(s): | Date Created: 20220317 Date Completed: 20220318 Latest Revision: 20220324 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC8925205 |
| DOI: | 10.1186/s13104-022-05993-6 |
| PMID: | 35296326 |
| Database: | MEDLINE |
Journal Article