Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breast cancer patients
| العنوان: | Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breast cancer patients |
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| المؤلفون: | Abdullah Alsulaiman, Hoyin Chu, Mohammed Al-Jumaan, Mohammed Alyahya, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Alnimer, Afnan Almuhanna, Amein Al-Ali, Saud H AlDubayan |
| المصدر: | Pharmacogenomics. |
| بيانات النشر: | Future Medicine Ltd, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Pharmacology, Genetics, Molecular Medicine |
| الوصف: | Aim: The indigenous Arab population is underrepresented in genomic studies and the landscape of actionable pharmacogenomic variants among Arab breast cancer patients remains unclear. Materials & methods: Exome sequencing was performed on 220 unselected Arab female breast cancer patients and germline variants in CYP2D6 and DPYD were profiled using a deep learning method. Results: In total, 13 (5.9%) patients had clinically actionable results and 56 (25.5%) carried an allele in DYPD or CYP2D6 with unknown impact on drug metabolism. In addition, four unique novel missense variants were discovered, including one in CYP2D6 (p.Arg64Leu) with high predicted pathogenicity. Conclusion: A nontrivial subset of Arab breast cancer patients can potentially benefit from pretreatment molecular profiling, and further study is needed to improve characterization of the pharmacogenomic landscape. |
| تدمد: | 1744-8042 1462-2416 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::13daf1a0f58f65e5691a40602f03bcc3Test https://doi.org/10.2217/pgs-2023-0029Test |
| رقم الانضمام: | edsair.doi...........13daf1a0f58f65e5691a40602f03bcc3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17448042 14622416 |
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