Pharmacogenomics最新文献_第2页

Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities. 采用全外显子组测序进行药物基因组学分析，探索其潜在的临床用途。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-21 DOI: 10.2217/pgs-2023-0243

Danyi Wang, Jayaprakasam Bolleddula, Anna Coenen-Stass, Thomas Grombacher, Jennifer Q Dong, Juergen Scheuenpflug, Giuseppe Locatelli, Zheng Feng

引用次数: 0

Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization. 普拉德-威利综合征的药物基因组学：护理人员的兴趣和计划利用。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2023-0189

Yael Bar-Peled, Jessica J Denton, Jaimie L Richards, Donna Brown, Elizabeth Worthey, Theresa V Strong

引用次数: 0

Ethnic differences in pharmacogenomic variants: a south Asian perspective. 药物基因组变异的种族差异：南亚视角。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-21 DOI: 10.2217/pgs-2024-0026

Bani Jolly, Vinod Scaria

引用次数: 0

Targeting RET mutation in medullary thyroid cancer. 针对甲状腺髓样癌的 RET 突变。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-07 DOI: 10.2217/pgs-2023-0234

Tarek Assi, Zamzam Tikriti, Annoir Shayya, Rebecca Ibrahim

引用次数: 0

Workforce readiness for pharmacogenomics and key elements for sustainment within the Veterans Health Administration. 退伍军人健康管理局内药物基因组学的人员准备情况和持续发展的关键因素。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-05 DOI: 10.2217/pgs-2023-0193

Rebekah Ryanne Wu, Richelle Benevent, Nina R Sperber, Jill S Bates, Daniel Villa, Dilhan Weeraratne, Timothy A Burrell, Deepak Voora

引用次数: 0

Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study. 药物诱发长 QT 综合征的遗传风险因素：一项大型真实病例对照研究的发现。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2023-0229

Ana I Lopez-Medina, Alessandra M Campos-Staffico, Choudhary Anwar A Chahal, Isabella Volkers, Juliet P Jacoby, Omer Berenfeld, Jasmine A Luzum

{"title":"Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study.","authors":"Ana I Lopez-Medina, Alessandra M Campos-Staffico, Choudhary Anwar A Chahal, Isabella Volkers, Juliet P Jacoby, Omer Berenfeld, Jasmine A Luzum","doi":"10.2217/pgs-2023-0229","DOIUrl":"10.2217/pgs-2023-0229","url":null,"abstract":"Aim: Drug-induced long QT syndrome (diLQTS), an adverse effect of many drugs, can lead to sudden cardiac death. Candidate genetic variants in cardiac ion channels have been associated with diLQTS, but several limitations of previous studies hamper clinical utility. Materials & methods: Thus, the purpose of this study was to assess the associations of KCNE1-D85N, KCNE2-I57T and SCN5A-G615E with diLQTS in a large observational case-control study (6,083 self-reported white patients treated with 27 different high-risk QT-prolonging medications; 12.0% with diLQTS). Results: KCNE1-D85N significantly associated with diLQTS (adjusted odds ratio: 2.24 [95% CI: 1.35-3.58]; p = 0.001). Given low minor allele frequencies, the study had insufficient power to analyze KCNE2-I57T and SCN5A-G615E. Conclusion: KCNE1-D85N is a risk factor for diLQTS that should be considered in future clinical practice guidelines.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":"25 3","pages":"117-131"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10964839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140175960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The genomic landscape of CYP2D6 variation in the Indian population. 印度人群中 CYP2D6 变异的基因组图谱。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-01 DOI: 10.2217/pgs-2023-0233

Ambily Sivadas, Surabhi Rathore, S Sahana, Bani Jolly, Rahul C Bhoyar, Abhinav Jain, Disha Sharma, Mohamed Imran, Vigneshwar Senthilvel, Mohit Kumar Divakar, Anushree Mishra, Sridhar Sivasubbu, Vinod Scaria

{"title":"The genomic landscape of CYP2D6 variation in the Indian population.","authors":"Ambily Sivadas, Surabhi Rathore, S Sahana, Bani Jolly, Rahul C Bhoyar, Abhinav Jain, Disha Sharma, Mohamed Imran, Vigneshwar Senthilvel, Mohit Kumar Divakar, Anushree Mishra, Sridhar Sivasubbu, Vinod Scaria","doi":"10.2217/pgs-2023-0233","DOIUrl":"10.2217/pgs-2023-0233","url":null,"abstract":"Aim: The CYP2D6 gene is highly polymorphic, causing large interindividual variability in the metabolism of several clinically important drugs. Materials & methods: The authors investigated the diversity and distribution of CYP2D6 alleles in Indians using whole genome sequences (N = 1518). Functional consequences were assessed using pathogenicity scores and molecular dynamics simulations. Results: The analysis revealed population-specific CYP2D6 alleles (*86, *7, *111, *112, *113, *99) and remarkable differences in variant and phenotype frequencies with global populations. The authors observed that one in three Indians could benefit from a dose alteration for psychiatric drugs with accurate CYP2D6 phenotyping. Molecular dynamics simulations revealed large conformational fluctuations, confirming the predicted reduced function of *86 and *113 alleles. Conclusion: The findings emphasize the utility of comprehensive CYP2D6 profiling for aiding precision public health.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"147-160"},"PeriodicalIF":2.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories. 激素受体阳性/HER2 阴性转移性乳腺癌的 PIK3CA 检测：来自意大利分子病理实验室的真实数据。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-05 DOI: 10.2217/pgs-2023-0238

Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco

{"title":"PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories.","authors":"Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco","doi":"10.2217/pgs-2023-0238","DOIUrl":"10.2217/pgs-2023-0238","url":null,"abstract":"Introduction: PIK3CA gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR+/HER2-) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CA status is complex due to selection of biological specimen and testing method. Materials & methods: This work investigates real-life experience on PIK3CA testing in HR+/HER2- MBC. Clinical, technical and molecular data on PIK3CA testing were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CA survey involving 116 institutions were assessed. Results: Overall, n = 35 MBCs were PIK3CA-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for PIK3CA molecular testing in diagnostic routine practice. Conclusion: This study provides insights into the real-world routine of PIK3CA testing in HR+/HER2- MBC and highlights the need for standardization and networking in predictive pathology.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"161-169"},"PeriodicalIF":2.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Overview of the year 2023 at Pharmacogenomics. 药物基因组学 2023 年概览。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2023-12-19 DOI: 10.2217/pgs-2023-0228

Sarah Jones

引用次数: 0

Genetic profiling of NUDT15 in the Slovenian population. 斯洛文尼亚人群中 NUDT15 的基因图谱分析。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-10-25 DOI: 10.1080/14622416.2024.2409060

Alenka Šmid, Dunja Urbančič, Jaka Vrevc Žlajpah, Natalia Stollarova, Tomaž Prelog, Marko Kavčič, Janez Jazbec, Irena Mlinarič-Raščan, Nataša Karas Kuželički

{"title":"Genetic profiling of NUDT15 in the Slovenian population.","authors":"Alenka Šmid, Dunja Urbančič, Jaka Vrevc Žlajpah, Natalia Stollarova, Tomaž Prelog, Marko Kavčič, Janez Jazbec, Irena Mlinarič-Raščan, Nataša Karas Kuželički","doi":"10.1080/14622416.2024.2409060","DOIUrl":"10.1080/14622416.2024.2409060","url":null,"abstract":"Determining variant TPMT alleles to predict patient response to thiopurine therapy represents one of the first successful implementations of pharmacogenomics in clinical practice. However, despite the TPMT-adjusted thiopurine dosing, some TPMT wild-type patients still exhibit toxicity at standard doses. Over the past decade, the pharmacogene NUDT15 has emerged as a significant co-modulator of thiopurine therapy. Initially, NUDT15 was considered important predominantly in Asian populations, but recent studies have highlighted its relevance in European populations as well.To evaluate the pharmacogenetic significance of NUDT15 in the Slovenian population, we sequenced extended regions of exon 1 and exon 3 in 109 healthy individuals and 37 patients with acute lymphoblastic leukemia.We identified eight variants, including one with established clinical significance (allele *3) and one extremely rare variant (Chr13 at 48045861; GRCh38, NC_000013.11). The frequencies of most previously described variants in both the general population and in the ALL cohort were consistent with those reported in other European populations, except for rs45465203, which was less frequent in the Slovenian population. None of the variants, except for NUDT15*3, were associated with cumulative thiopurine doses in ALL patients. However, these variants warrant further investigation in larger ALL cohorts.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"515-525"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0