{"doi":"10.2217/pgs-2023-0029","title":"Profiling of Pharmacogenomic Variants in\n            <i>CYP2D6</i>\n            and\n            <i>DPYD</i>\n            in Indigenous Arab Breast Cancer Patients","abstract":null,"journal":"Pharmacogenomics","year":2023,"id":589340,"datarank":0.11321642516004353,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.009244348076051722,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.009244348076051722,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":1,"citers_with_citation_signal":1,"citers_with_endowment":1,"datacite_reuse_total":4,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":72853,"name":"Hoyin Chu","orcid":"0000-0001-8630-3667","position":1,"is_corresponding":false},{"id":1507835,"name":"Mohammed Al-Jumaan","orcid":null,"position":2,"is_corresponding":false},{"id":685159,"name":"Mohammed Alyahya","orcid":"0000-0002-9966-3212","position":3,"is_corresponding":false},{"id":1507836,"name":"Yousef Al Marzooq","orcid":null,"position":4,"is_corresponding":false},{"id":1507837,"name":"Fatmah Almulhim","orcid":null,"position":5,"is_corresponding":false},{"id":1507838,"name":"Chittibabu Vatte","orcid":"0000-0003-3026-5520","position":6,"is_corresponding":false},{"id":1507839,"name":"Areej Alnimer","orcid":null,"position":7,"is_corresponding":false},{"id":1507840,"name":"Afnan Almuhanna","orcid":null,"position":8,"is_corresponding":false},{"id":1507841,"name":"Amein Al-Ali","orcid":null,"position":9,"is_corresponding":false},{"id":1507842,"name":"Saud H AlDubayan","orcid":null,"position":10,"is_corresponding":false},{"id":1507834,"name":"Abdullah Alsulaiman","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Profiling of Pharmacogenomic Variants in\n            <i>CYP2D6</i>\n            and\n            <i>DPYD</i>\n            in Indigenous Arab Breast Cancer Patients","abstract":"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.","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37222147","pmcid":null,"openalex_id":"https://openalex.org/W4377939099","authors":[],"funders":[{"funder_name":"US Department of Defense","grant_id":"PC200150, W81XWH-21-1-0084","title":null},{"funder_name":"Prostate Cancer Foundation","grant_id":"YIA#18YOUN02","title":null},{"funder_name":"King Abdulaziz City for Science and Technology","grant_id":"#11-MED2101-46, #12-MED2226-46","title":null}],"total_grants":3,"fwci":0.205,"citation_percentile":0.50081156,"influential_citations":0,"citation_trend":[{"year":2025,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://www.tandfonline.com/doi/pdf/10.2217/pgs-2023-0029","host_type":"publisher"},{"url":"https://doi.org/10.2217/pgs-2023-0029","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37222147","host_type":"repository"}],"fields_of_study":["Pharmacogenetics and Drug Metabolism","Cancer Genomics and Diagnostics","Colorectal Cancer Treatments and Studies","Humans","Female","Breast Neoplasms","Pharmacogenomic Variants","Tamoxifen","Cytochrome P-450 CYP2D6","Arabs"],"mesh_terms":["Pharmacogenomic Variants","Breast Neoplasms","Female","Humans","Tamoxifen","Arabs","Cytochrome P-450 CYP2D6"],"keywords":["Pharmacogenomics","DPYD","Breast cancer","Pharmacogenetics","CYP2D6","Exome sequencing","Exome","Genetics","Medicine","Oncology","Biology","Bioinformatics","Cancer","Genotype","Gene","Mutation","Drug metabolism","Tamoxifen","Fluoropyrimidines","Arab Population"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[{"doi":"10.25402/pgs.23130968.v1","title":"Supplementary Tables: Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breastcancer patients","publisher":"Taylor & Francis","resource_type":"Dataset"},{"doi":"10.25402/pgs.23130965.v1","title":"Supplementary Figures: Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breastcancer patients","publisher":"Taylor & Francis","resource_type":"Image"},{"doi":"10.25402/pgs.23130968","title":"Supplementary Tables: Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breastcancer patients","publisher":"Taylor & Francis","resource_type":"Dataset"},{"doi":"10.25402/pgs.23130965","title":"Supplementary Figures: Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breastcancer patients","publisher":"Taylor & Francis","resource_type":"Image"}],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-23T16:45:27.771539Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}