Rapid Detection of UGT1A1 Gene Polymorphisms by Newly Developed Invader Assay

Hasegawa, Yoshinori; Sarashina, Takeshi; Ando, Maki; Kitagawa, Chiyoe; Mori, Atsuo; Yoneyama, M.; Ando, Yuichi; Shimokata, Kaoru

doi:10.1373/clinchem.2004.034694

Cited by 44 publications

(30 citation statements)

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“…These assays include an Invader® assay (Holologic/ Third Wave Technologies) [cleared by the US Food and Drug Administration (18 )], pyrosequencing (19 ), dual hybridization probe melting (20,21 ), fragment analysis of fluorescently labeled PCR products (22 ), hydrolysis probes (23 ), denaturing HPLC (24 ), and small-amplicon genotyping by high-resolution melting (25 ). Most of these assays identify only the (TA) 6 and (TA) 7 alleles.…”

Section: Discussionmentioning

confidence: 99%

Snapback Primer Genotyping of the Gilbert Syndrome UGT1A1 (TA)n Promoter Polymorphism by High-Resolution Melting

2011

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BACKGROUND: Gilbert syndrome, a chronic nonhemolytic unconjugated hyperbilirubinemia, is associated with thymine-adenine (TA) insertions in the UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) promoter. The UGT1A1 promoter genotype also correlates with toxicity induced by the chemotherapeutic drug irinotecan. Current closed-tube assays for genotyping the UGT1A1 (TA) n promoter polymorphism require multiple labeled probes and/or have difficulty classifying the (TA) 5 and (TA) 8 alleles.

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Section: Discussionmentioning

confidence: 99%

Snapback Primer Genotyping of the Gilbert Syndrome UGT1A1 (TA)n Promoter Polymorphism by High-Resolution Melting

2011

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“…For 2D6, there were 12 combinations of 8 different alleles tested: *1 through *5, *10, *35, and *1XN (gene duplication). For all PT samples, a multitude of different genotyping methods were used including allele-specific polymerase chain reaction, bead array, signal amplification technology (ie, Invader, Hologic Inc., Bedford, Massachusetts 8 ), mass spectrometry, microarray technology, polymerase chain reaction followed by capillary gel electrophoresis, restriction fragment length polymorphism, allele-specific probes, and sequencing. The menu of singlenucleotide polymorphism (SNP) variant alleles targeted for testing by these laboratories also varied.…”

Section: Methodsmentioning

confidence: 99%

Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing

2013

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Pharmacogenetic testing is becoming increasingly important for drugs such as irinotecan, warfarin, clopidogrel, codeine, and the tricyclic antidepressant drugs. Laboratories certified to perform pharmacogenetic testing must demonstrate successful performance on proficiency testing surveys. Objectives.—To examine the performance of laboratories subscribing to pharmacogenetic proficiency testing surveys for genes that encode CYP2C9, VKORC1, UGT1A1, CYP2C19, and CYP2D6. Data Sources.—College of American Pathologists Pharmacogenetic Proficiency Survey (PGX), 2007–2011. Conclusions.—For all 5 genes challenged, there was good performance among participating laboratories for reporting wild types (95.4%–99.1% correct). For CYP2C9, VKORC1, and UGT1A1, there was no statistical difference in the percentage correctly detected for variant alleles compared to wild type. For CYP2C19, participating laboratories were greater than 90% successful in detecting variant genotypes of *1/*2, *1/*8, and *2/*3. However, several laboratories failed to detect *2/*2, *2/*4 and *1/*17 variant genotypes. For CYP2D6, laboratories were successful in detecting the most important variant genotypes (*1/*4, *1/*2, *4/*10, *10/*10, *2/*4, *2/*10) but not some of the less frequently encountered variant genotypes (*1/*10, *2/*3, *1/*35, *4/*5, and *1/*1XN). The interpretation of phenotypes by participating laboratories was largely consistent with the genotypes reported, with errors in genotyping leading to errors in phenotype assignment. Improvements in genotyping accuracy are needed for some pharmacogenetics laboratories with reference to CYP2C19 and CYP2D6.

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“…Few data are available to support estimates of analytic sensitivity for other promoter (*36, *37) and exon 1 variants (*6, *27). 26 The overall estimate of analytic specificity was 100% (referent method: sequencing; 95% CI 97-100%). A subsequent study supported these earlier findings, comparing sequencing, the Invader in vitro device (IVD), and PCR/capillary electrophoresis.…”

Section: Analytic Validitymentioning

confidence: 97%

“…24,26 -28 One describes a methodology not likely to be used in current practice (radioactive polymerase chain reaction [PCR]), 27 one provides data on denaturing high performance liquid chromatography (DHPLC), 28 and two report on tests using the Invader technology. 24,26 Despite the heterogeneity in methods, the overall estimate of analytic sensitivity was 100% for UGT1A1 genotypes containing the *28 allele (referent test: sequencing; 95% confidence interval [CI] 98 -100%) and genotypes containing the less common*6 allele (referent test: PCR-RFLP [polymerase chain reaction-restriction fragment length polymorphism-based methodology]; 95% CI 98 -100%). Few data are available to support estimates of analytic sensitivity for other promoter (*36, *37) and exon 1 variants (*6, *27).…”

Section: Analytic Validitymentioning

confidence: 99%

Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?

Berg

Armstrong

Botkin

et al. 2009

Genetics in Medicine

102

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Rapid Detection of UGT1A1 Gene Polymorphisms by Newly Developed Invader Assay

Cited by 44 publications

References 3 publications

Snapback Primer Genotyping of the Gilbert Syndrome UGT1A1 (TA)n Promoter Polymorphism by High-Resolution Melting

Snapback Primer Genotyping of the Gilbert Syndrome UGT1A1 (TA)n Promoter Polymorphism by High-Resolution Melting

Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing

Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?

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