340 results match your criteria polymorphism ugt1a1*28

TaqMan real time PCR for the Detection of the Gilbert's Syndrome Markers UGT1A1*28; UGT1A1*36 and UGT1A1*37.

Mol Biol Rep 2021 May 4;48(5):4953-4959. Epub 2021 Jun 4.

Department of Public Health and Pediatrics, School of Medicine, University of Turin, Piazza Polonia 94, 10126, Turin, Italy.

Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The key of this disease is a diminished activity of UDP-glucuronosyltransferase 1A1 (UGT1A1). TA insertion into the TATA box promoter region of the UGT1A1 gene on chromosome 2 is the genetic basis of Gilbert's syndrome (UGT1A1*28). Read More

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Influence of UGT1A1 *6/*28 Polymorphisms on Irinotecan-Related Toxicity and Survival in Pediatric Patients with Relapsed/Refractory Solid Tumors Treated with the VIT Regimen.

Pharmgenomics Pers Med 2021 23;14:369-377. Epub 2021 Mar 23.

State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-Sen University Cancer Center, Guangzhou, People's Republic of China.

Objective: The association between UGT1A1*6/*28 polymorphisms and treatment outcomes of irinotecan in children remains unknown. This retrospective study investigated the influence of UGT1A1*6/*28 polymorphisms on irinotecan toxicity and survival of pediatric patients with relapsed/refractory solid tumors.

Methods: The present study enrolled a total of 44 patients aged younger than 18 years at Sun Yat-sen University Cancer Center between 2014 and 2017. Read More

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Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.

J Autism Dev Disord 2021 Mar 17. Epub 2021 Mar 17.

Department of Public Health, Kobe University Graduate School of Health Science, 7-10-2 Tomogaoka, Suma-ku, Kobe, 654-0142, Japan.

Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for UGT1A1*28 (c. Read More

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UGT1A1 Gene Polymorphisms in Patients with Small Cell Lung Cancer Treated with Irinotecan-Platinum Doublet Chemotherapy and Their Association with Gastrointestinal Toxicity and Overall Survival.

Oncologist 2021 Aug 12;26(8):701-713. Epub 2021 Apr 12.

Department of Pulmonary Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Background: Irinotecan (CPT11) is an important drug for small cell lung cancer (SCLC) chemotherapy (CTx). UDP-glucuronosyltransferase 1A1 (UGT1A1) polymorphisms can influence CPT11-related toxicity. This study aimed to assess prevalence of UGT1A1 polymorphisms and their association with clinical outcomes in patients with SCLC on CPT11-CTx. Read More

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[Analysis of diagnostic value of UGT1A1 gene detection in Gilbert syndrome].

Zhonghua Gan Zang Bing Za Zhi 2021 Feb;29(2):143-149

Department and Institute of Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

To investigate the diagnosis method of Gilbert syndrome (GS) and the relationship between UGT1A1 gene polymorphism distribution with serum bilirubin. Clinical data of 115 GS cases diagnosed in our hospital from January 2013 to November 2018 were retrospectively analyzed. Chi-square test, Fisher's exact probability method, t-test, and non-parametric test were used for data analysis. Read More

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February 2021

Compound heterozygous UGT1A1*28 and UGT1A1*6 or single homozygous UGT1A1*28 are major genotypes associated with Gilbert's syndrome in Chinese Han people.

Gene 2021 May 23;781:145526. Epub 2021 Feb 23.

Department and Institute of Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. Electronic address:

Gilbert's syndrome (GS) is a mild condition characterized by periods of hyperbilirubinemia, which results in variations in the UDP-glucuronosyltransferase 1 (UGT1A1) gene. Variant genotypes of UGT1A1 vary in different populations in the world. The present study aimed to determine the genotype of the UGT1A1 promoter and exon that are related to the serum total bilirubin (STB) level in the Chinese Han population. Read More

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FOLFIRINOX in advanced pancreatic cancer patients with the double-variant type of UGT1A1 *28 and *6 polymorphism: a multicenter, retrospective study.

Cancer Chemother Pharmacol 2021 03 2;87(3):397-404. Epub 2021 Jan 2.

Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital East, 6-5-1 Kashiwanoha, Kashiwa, Chiba, 277-8577, Japan.

Background: UGT1A1 *28 and *6 polymorphism is associated with reduced enzyme activity and severe toxicities of irinotecan, especially in patients with homozygous or heterozygous for UGT1A1*28 or *6 polymorphism for both UGT1A1*28 and *6 (double-variant-type of UGT1A1 polymorphism, UGT1A1-DV). FOLFIRINOX is one of the standard treatments for metastatic pancreatic cancer (PC). The optimal dose of irinotecan as a component of the FOLFIRINOX has not been established yet for patients with UGT1A1-DV. Read More

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Pre-therapeutic UGT1A1 genotyping to reduce the risk of irinotecan-induced severe toxicity: Ready for prime time.

Eur J Cancer 2020 12 23;141:9-20. Epub 2020 Oct 23.

Department of Medical Oncology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

Background: Pre-therapeutic UGT1A1 genotyping is not yet routinely performed in most hospitals in patients starting irinotecan chemotherapy. The aim of this position paper was to evaluate the available evidence and to assess the potential value of genotyping of UGT1A1∗28 and UGT1A1*6 in patients before starting treatment with irinotecan to reduce the risk of severe toxicity.

Methods: The literature was selected and assessed based on five pre-specified criteria: 1) the level of evidence for associations between UGT1A1 polymorphisms and irinotecan-induced severe toxicity, 2) clinical validity and utility of pre-therapeutic genotyping of UGT1A1, 3) safety and tolerability of irinotecan in carriers of UGT1A1 polymorphisms, 4) availability of specific dose recommendations for irinotecan in carriers of UGT1A1 polymorphisms, 5) evidence of cost benefits of pre-therapeutic genotyping of UGT1A1. Read More

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December 2020

Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy.

Sci Rep 2020 08 10;10(1):13486. Epub 2020 Aug 10.

Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.

Genetic polymorphisms in drug metabolizing enzymes and drug transporters may affect irinotecan toxicity. Although genetic polymorphisms have been shown to influence the irinotecan toxicity, data are limited in Thai population. Thus, the aim of this study was to assess the allele and genotype frequencies and the relationship between CYP3A4/5, DPYD, UGT1A1, ABCB1, and ABCC2 genetic variations and irinotecan-induced toxicity in Thai colorectal cancer patients. Read More

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Pharmacogenetic impact of UGT1A1 polymorphisms on pulmonary neuroendocrine tumours treated with metronomic irinotecan-based chemotherapy in Chinese populations.

J Pharm Pharmacol 2020 Nov 31;72(11):1528-1535. Epub 2020 Jul 31.

Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Pharmacy, Peking University Cancer Hospital & Institute, Haidian District, Beijing, China.

Objectives: To evaluate the effects of UGT1A1*6 and UGT1A1*28 polymorphisms on the safety and efficacy of metronomic irinotecan-based chemotherapy (IBC) in Chinese patients with pulmonary neuroendocrine tumours (PNTs).

Methods: Sixty-eight PNT patients who received metronomic IBC were observed. The quantitative fluorescent polymerase chain reaction was used to detect UGT1A1*6 and UGT1A1*28 polymorphisms. Read More

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November 2020

Pharmacokinetic and Pharmacogenetic Study of Etoposide in High-Dose Protocol (TI-CE) for Advanced Germ Cell Tumors.

Pharm Res 2020 Jul 16;37(7):147. Epub 2020 Jul 16.

Institut Claudius-Regaud, IUCT-Oncopole, Toulouse, France.

Background: Etoposide dosing is based on body surface area. We evaluated if further dose individualization would be required for high dose (HD) etoposide within the TI-CE (taxol, ifosfamide, carboplatin, and etoposide) protocol.

Methods: Eighty-eight patients received 400 mg/m/day of etoposide as a 1-hour IV infusion on 3 consecutive days over 3 cycles as part of a phase II trial evaluating efficacy of therapeutic drug monitoring (TDM) of carboplatin in the TI-CE HD protocol. Read More

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Correlation between UGT1A1 gene polymorphism and irinotecan chemotherapy in metastatic colorectal cancer: a study from Guangxi Zhuang.

BMC Gastroenterol 2020 Apr 7;20(1):96. Epub 2020 Apr 7.

Department of Oncology, the Forth Affiliated Hospital of Guangxi Medical University, No.1 liushi Road, Liuzhou, 545005, Guangxi, China.

Background: There are obviously ethnic differences between the UGT1A1 gene polymorphisms. Due to the difference of genetic background and environment, the treatment with colorectal cancer patients of Guangxi Zhuang should not completely follow the Euramerican or Chinese han patients. The study aimed to explore the correlation of UGT1A1 gene polymorphism of Guangxi Zhuang metastatic colorectal cancer (mCRC) with irinotecan -based chemotherapy, in order to develop an individualized irinotecan regimen for mCRC patients of Guangxi Zhuang. Read More

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[Clinical characteristics and influencing factors of patients with novel coronavirus pneumonia combined with liver injury in Shaanxi region].

Zhonghua Gan Zang Bing Za Zhi 2020 Mar;28(3):234-239

Department of Infectious Diseases, Tangdu Hospital, the Air Force Medical University, Xi'an 710038, China.

To understand the clinical characteristics, change of liver function, influencing factors and prognosis in hospitalized patients with coronavirus disease-19 (COVID-19) combined with liver injury. The general conditions, biochemical indicators of liver, blood clotting mechanism, routine blood test, UGT1A1 * 28 gene polymorphism and other data of 40 cases with COVID-19 admitted to the isolation ward of Tangdu Hospital were retrospectively analyzed. The clinical characteristics, influencing factors and prognosis of liver injury in patients with liver injury group and those with normal liver function group were compared. Read More

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Genetic influence of ABCG2, UGT1A1 and NR1I2 on dolutegravir plasma pharmacokinetics.

J Antimicrob Chemother 2020 05;75(5):1259-1266

University of Liverpool, Liverpool, UK.

Objectives: Dolutegravir has replaced efavirenz as first-line treatment in universal HIV guidelines. We sought to ascertain the contributory effect of SNPs in four key genes linked to dolutegravir disposition (UGT1A1, ABCG2, CYP3A and NR1I2) on plasma dolutegravir pharmacokinetics.

Methods: Paired pharmacogenetic/pharmacokinetic data from 93 subjects were analysed for association using multivariate linear regression. Read More

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UGT1A1*28 gene polymorphism was not associated with the risk of neonatal hyperbilirubinemia: a meta-analysis.

J Matern Fetal Neonatal Med 2019 Dec 25:1-8. Epub 2019 Dec 25.

Department of Pediatrics, Linyi People's Hospital, Linyi, China.

This study aimed to evaluate the relationship between UGT1A1*28 gene polymorphism and the risk of neonatal hyperbilirubinemia (NHBI). The studies meet certain selection condition which was obtained from databases such as PubMed, Embase, and Cochrane Library. Newcastle-Ottawa Scale (NOS) was used to evaluate the quality of included studies. Read More

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December 2019

Study on the Optimal Dose of Irinotecan for Patients with Heterozygous Uridine Diphosphate-Glucuronosyltransferase 1A1 (UGT1A1).

Biol Pharm Bull 2019 ;42(11):1839-1845

Department of Pharmacy, Tokushima University Hospital.

Uridine 5'-diphospho-glucuronosyltransferase (UGT), a metabolic enzyme of irinotecan active metabolite, has two genetic polymorphisms (UGT1A1*6 and UGT1A1*28). In UGT1A1 homozygous or heterozygous patients, metabolism is delayed and the risk of developing adverse effects is increased, and therefore, dose reduction of irinotecan is considered. However, the specific dose reduction rate of irinotecan for heterozygous patients is uncertain. Read More

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Precision treatment in colorectal cancer: Now and the future.

Tung On Yau

JGH Open 2019 Oct 8;3(5):361-369. Epub 2019 Feb 8.

John van Geest Cancer Research Centre, School of Science and Technology Nottingham Trent University Nottingham UK.

Until recently, a one-drug-fits-all model was applied to every patient diagnosed with the same condition. But not every condition is the same, and this has led to many cases of ineffective treatment. Pharmacogenetics is increasingly used to stratify patients for precision medicine treatments, for instance, the UGT1A1*28 polymorphism as a dosage indicator for the use of irinotecan as well as epidermal growth factor receptor (EGFR) immunohistochemistry and KRAS Proto-Oncogene () exon 2 mutation tests for determining the likelihood of treatment response to cetuximab or panitumumab treatment in metastatic colorectal cancer (CRC). Read More

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October 2019

Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project.

J Hum Genet 2019 Dec 4;64(12):1195-1202. Epub 2019 Oct 4.

Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama City, Kanagawa, 230-0045, Japan.

It has been reported that there are differences in effects on irinotecan-induced adverse reactions between UGT1A1*6 and UGT1A1*28. In order to compare those differences in the Japanese population, we examined the associations between UGT1A1 and irinotecan-induced adverse reactions using the BioBank Japan Project database. We genotyped UTG1A1*6 and UGT1A1*28 and conducted case-control analyses. Read More

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December 2019

Clinical Assessment of 5-Fluorouracil/Leucovorin, Nab-Paclitaxel, and Irinotecan (FOLFIRABRAX) in Untreated Patients with Gastrointestinal Cancer Using Genotype-Guided Dosing.

Clin Cancer Res 2020 01 26;26(1):18-24. Epub 2019 Sep 26.

Section of Hematology/Oncology, University of Chicago, Chicago, Illinois.

Purpose: 5-Fluorouracil (5-FU)/leucovorin, irinotecan, and nab-paclitaxel are all active agents in gastrointestinal cancers; the combination, FOLFIRABRAX, has not been previously evaluated. UDP Glucuronosyltransferase 1A1 (UGT1A1) clears SN-38, the active metabolite of irinotecan. polymorphism reduces UGT1A1 enzymatic activity and predisposes to toxicity. Read More

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January 2020

Prevalence of the promoter polymorphism and breast cancer risk among African American women in Memphis, TN.

Cancer Health Disparities 2019 Aug;3:e1-e12

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

Inherited variations in UDP-glucuronosyltransferase 1A1 (UGT1A1) are associated with an increased breast cancer risk in women of African ancestry. The promoter polymorphism is characterized by the presence of 7 TA repeats in the TATA box sequence and results in reduced UGT1A1 gene expression and enzymatic activity. In this study, we investigated associations between the polymorphism and breast cancer risk among African American (AA) women in Memphis, Tennessee, a city with increased breast cancer mortality rates among AA women. Read More

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Profiling of UGT1A16, UGT1A160, UGT1A193, and UGT1A128 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing.

Front Pediatr 2019 7;7:328. Epub 2019 Aug 7.

Division of Pharmaceutical Microbiology and Biotechnology, Faculty of Pharmacy, Universitas Indonesia, Depok, Indonesia.

Single nucleotide polymorphism (SNP) variants of the uridine diphosphate glucuronosyltransferase 1A1 () gene have been studied as an important factor in neonatal hyperbilirubinemia (jaundice) severity. Specific ethnicities, including Asians, have certain SNPs that appear more frequently than others. To identify the most common SNPs in Indonesian neonates and their association with the severity of neonatal hyperbilirubinemia. Read More

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[FOLFIRINOX for Locally Advanced and Recurrent Pancreatic Cancer with UGT1A1 *6 and or UGT1A1*28 Polymorphisms-A Report of Two Cases].

Gan To Kagaku Ryoho 2019 Apr;46(4):754-756

Dept. of Surgery, Division of Hepato-Biliary-Pancreatic and Transplant Surgery, Fukushima Medical University.

Treatment containing FOLFIRINOX was planned to be administered to a 51-year-old man with locally advanced pancreatic cancer as second-line chemotherapy and to a 66-year-old woman with recurrent pancreatic cancer as third-line chemotherapy in their treatments. Since both patients were revealed to harbor UGT1A1 polymorphisms, which were highly associated with irinotecan-induced toxicity(the former: UGT1A1 *6/*28, the latter: UGT1A1*6/*6), there was no alternative hopeful treatment other than FOLFIRINOX for them. Therefore, FOLFIRINOX was administered very carefully. Read More

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Targeted next generation sequencing as a tool for precision medicine.

BMC Med Genomics 2019 06 3;12(1):81. Epub 2019 Jun 3.

Division of Clinical Pharmacology, Department of Medicine, Western University, London Health Sciences Centre - University Hospital, 339 Windermere Road, London, ON, N6A 5A5, Canada.

Background: Targeted next-generation sequencing (NGS) enables rapid identification of common and rare genetic variation. The detection of variants contributing to therapeutic drug response or adverse effects is essential for implementation of individualized pharmacotherapy. Successful application of short-read based NGS to pharmacogenes with high sequence homology, nearby pseudogenes and complex structure has been previously shown despite anticipated technical challenges. Read More

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Interethnic Variations of UGT1A1 and UGT1A7 Polymorphisms in the Jordanian Population.

Curr Drug Metab 2019 ;20(5):399-410

Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan.

Background: Glucuronidation is one of the most important phase II metabolic pathways. It is catalyzed by a family of UDP-glucuronosyltransferase enzymes (UGTs). UGT1A1 and UGT1A7 catalyze the glucuronidation of a diverse range of medications, environmental chemicals and endogenous compounds. Read More

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December 2019

Association between plasma bilirubin and mortality.

Ann Hepatol 2019 Mar - Apr;18(2):379-385. Epub 2019 Apr 18.

Department of Epidemiology and Public Health, University College of London, UK.

Introduction And Aim: It has been proposed that plasma concentration of bilirubin, an endogenous antioxidant, is protective against diseases mediated by increased oxidative stress, including cardiovascular diseases (CVD) and cancer. To examine this hypothesis, we investigated the relationship between plasma bilirubin concentrations and bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations (associated with increased bilirubin concentrations) with total/CVD and cancer mortality.

Materials And Methods: A nested case-control study was conducted within the Polish arm of the HAPIEE cohort. Read More

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A study of the association between UGT1A1*28 variant allele of UGT1A1 gene and colonic phenotype of sporadic colorectal cancer.

Dig Liver Dis 2019 04 10;51(4):579-583. Epub 2018 Dec 10.

Department of Hepatogastroenterology and Digestive Oncology, Tours, France; EA 7501 (GICC), Université de Tours, France.

Introduction: The transcriptional activity of the UGT1A1 gene is modulated by a variable number of repetitions of the dinucleotide (TA) within its promoter region. By comparison to the most common allele (TA) (UGT1A1*1), decreased activity is observed with increasing TA repetitions. The aim of this study was to determine whether the presence of the variant allele UGT1A1*28, harbouring seven TA repetitions, (TA), in the homozygous state, is associated with precancerous colonic lesions and/or with specific colorectal cancer characteristics. Read More

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Association of nephrotoxicity during platinum-etoposide doublet therapy with UGT1A1 polymorphisms in small cell lung cancer patients.

Lung Cancer 2018 12 5;126:156-161. Epub 2018 Nov 5.

Research Institute for Diseases of the Chest, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. Electronic address:

Objectives: Etoposide is a key agent in the treatment of small cell lung cancer (SCLC). Uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) is thought to be largely responsible for the glucuronidation of etoposide as well as that of irinotecan, suggesting that polymorphisms of UGT1A1 might be predictive of etoposide toxicity. We therefore examined the relation between UGT1A1 polymorphisms and toxicity profile during platinum-etoposide doublet therapy in SCLC patients. Read More

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December 2018

Irinotecan toxicity during treatment of metastatic colorectal cancer: focus on pharmacogenomics and personalized medicine.

Tumori 2020 Apr 5;106(2):87-94. Epub 2018 Dec 5.

Charles University, Faculty of Medicine in Hradec Králové, University Hospital Hradec Králové, Department of Oncology and Radiotherapy, Czech Republic.

Colorectal cancer, one of the most frequent types of cancer worldwide, has a high mortality rate. Irinotecan (CPT-11) has been approved for the treatment of advanced or metastatic disease either as a single agent or, more commonly, as part of combined chemotherapeutic regimens. Treatment with irinotecan is often accompanied by severe toxicity (e. Read More

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Impact of UGT1A1 genetic polymorphism on toxicity in unresectable pancreatic cancer patients undergoing FOLFIRINOX.

Cancer Sci 2019 Feb 12;110(2):707-716. Epub 2018 Dec 12.

Division of Gastrointestinal Oncology, Shizuoka Cancer Center, Shizuoka, Japan.

Studies have indicated an association between UDP-glucuronosyltransferase-1A1 (UGT1A1) genetic polymorphisms and irinotecan-induced toxicity. We undertook this study to investigate the association between UGT1A1 genetic polymorphisms and toxicity in patients treated with the FOLFIRINOX (comprising oxaliplatin, irinotecan, fluorouracil, and leucovorin) chemotherapy regimen in the JASPAC 06 study. Patients screened for UGT1A1*6 and UGT1A1*28, and treated with either the original FOLFIRINOX (oxaliplatin 85 mg/m , irinotecan 180 mg/m , leucovorin 200 mg/m , bolus 5-fluorouracil [5-FU] 400 mg/m , and continuous 5-FU 2400 mg/m ) or a modified FOLFIRINOX (oxaliplatin 85 mg/m , irinotecan 150 mg/m , leucovorin 200 mg/m , and continuous 5-FU 2400 mg/m ) as first-line chemotherapy were included. Read More

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February 2019

Influence of UGT1A1 polymorphism on etoposide plus platinum-induced neutropenia in Japanese patients with small-cell lung cancer.

Int J Clin Oncol 2019 Mar 17;24(3):256-261. Epub 2018 Oct 17.

Department of Pharmacy, University of Fukui Hospital, 23-3 Matsuoka-shimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan.

Background: The association between UGT1A1 polymorphism and etoposide-induced toxicities is still not clear. The aim of this study was to assess the association between uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene polymorphism and severe hematologic toxicities in Japanese patients receiving etoposide plus platinum chemotherapy for small-cell lung cancer.

Methods: This retrospective analysis included patients with small-cell lung cancer who had received their first-line chemotherapy with etoposide plus cisplatin or carboplatin, between October 2008 and April 2018, at the University of Fukui Hospital. Read More

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