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Detection of frequent ABCB1 polymorphisms by high-resolution melting curve analysis and their effect on breast carcinoma prognosis
-
Radka Vaclavikova
,
Marie Ehrlichova
Veröffentlicht/Copyright:
23. Juni 2012
Abstract
Background: The ABCB1 gene encodes P-glycoprotein implicated in the development of cellular drug resistance. The aim of this study was to develop high-resolution melting (HRM) analysis for determination of ABCB1 polymorphisms and evaluate their associations with clinical data of breast carcinoma patients.
Methods: HRM analysis was designed to assess five single nucleotide polymorphisms (SNPs) in ABCB1 (rs2214102, rs1128503, rs2032582, rs2032583 and rs1045642) in genomic DNA from 103 breast carcinoma patients. Results were confirmed by direct DNA sequencing.
Results: HRM analysis revealed distinct patterns of melting curves for the respective genotypes of all followed SNPs. Sensitivity of HRM analysis compared with direct DNA sequencing was superior (97.1% vs. 93.9%). The overall accuracy of HRM was 97.6%. The coefficients of variation in replicate experiments encompassed the range 0.002%–0.038%. On the basis of the examined SNPs, one strong haplotype block containing rs2032582 and rs1128503 SNPs was identified. Significant associations of rs2032582 SNP with tumor size, negative HER-2/neu status, and family history of breast carcinoma were found. Patients carrying the ancestral homozygous genotype (GG) in rs2214102 had significantly worse progression-free survival in comparison with carriers of the non-ancestral allele (A) in the adjuvant set (p=0.005).
Conclusions: A rapid, accurate, low-cost and time-effective method for screening ABCB1 SNPs was developed. Significant associations of ABCB1 rs2032582 and rs2214102 SNPs with prognostic factors and survival of patients were found.
Received: 2012-02-20
Accepted: 2012-05-22
Published Online: 2012-06-23
Published in Print: 2012-11-01
©2012 by Walter de Gruyter Berlin Boston
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Schlagwörter für diesen Artikel
ABCB1;
breast carcinoma;
high resolution melting;
multidrug resistance;
polymorphisms
Artikel in diesem Heft
- Congress Abstracts
- 44th National Congress of the Italian Society of Clinical Biochemistry and Clinical Molecular Biology
- Masthead
- Masthead
- Editorials
- Tumor biomarkers: PSA and beyond
- Error reporting in transfusion medicine: an important tool to improve patient safety
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- Reviews
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- Association of PBEF gene polymorphisms with acute lung injury, sepsis, and pneumonia in a northeastern Chinese population
- General Clinical Chemistry and Laboratory Medicine
- Brazilian laboratory indicators program
- Error reporting in transfusion medicine at a tertiary care centre: a patient safety initiative
- Application of mathematical models of system uncertainty to evaluate the utility of assay calibration protocols
- 25-Hydroxyvitamin D testing: challenging the performance of current automated immunoassays
- Analytical validation of the Roche 25-OH Vitamin D Total assay
- The new Roche Vitamin D Total assay: fit for its purpose?
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