ArticleJournal of the National Cancer Institute2013
Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.
Article in Journal of the National Cancer Institute, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Cytochrome P-450 2D6 (CYP2D6) Genotype and Breast Cancer Recurrence in Tamoxifen-Treated Patients: Evaluating the Importance of Loss of Heterozygosity.American journal of epidemiology · 2017Pooled it
- Manganese superoxide dismutase and breast cancer recurrence: a Danish clinical registry-based case-control study, and a meta-analysis.PloS one · 2014Pooled it
- ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer.Breast cancer research and treatment · 2015Trial
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- Association of AGTR1 (A1166C) and ACE (I/D) Polymorphisms with Breast Cancer Risk in North Indian Population.Translational oncology · 2018Article
- CYP2D6 genotype is not associated with survival in breast cancer patients treated with tamoxifen: results from a population-based study.Breast cancer research and treatment · 2017Article
- Genotyping concordance in DNA extracted from formalin-fixed paraffin embedded (FFPE) breast tumor and whole blood for pharmacogenetic analyses.Molecular oncology · 2015Article
- CYP19A1 polymorphisms and clinical outcomes in postmenopausal women with hormone receptor-positive breast cancer in the BIG 1-98 trial.Breast cancer research and treatment · 2015Article
- Technical reproducibility of single-nucleotide and size-based DNA biomarker assessment using DNA extracted from formalin-fixed, paraffin-embedded tissues.The Journal of molecular diagnostics : JMD · 2015Article
- Prognostic significance of mammographic density change after initiation of tamoxifen for ER-positive breast cancer.Journal of the National Cancer Institute · 2015Article
- Loss of heterozygosity at the CYP2D6 locus in breast cancer: implications for germline pharmacogenetic studies.Journal of the National Cancer Institute · 2014Article
- Population pharmacokinetic modelling to assess the impact of CYP2D6 and CYP3A metabolic phenotypes on the pharmacokinetics of tamoxifen and endoxifen.British journal of clinical pharmacology · 2014Article
- CYP2D6 genotyping and tamoxifen in the treatment of post-menopausal breast cancer.British journal of clinical pharmacology · 2014Article
- CYP2D6 genotyping and tamoxifen in the treatment of post-menopausal breast cancer - a reply.British journal of clinical pharmacology · 2014Article
- Discrepancies between VEGF -1154 G>A polymorphism analysis performed in peripheral blood samples and FFPE tissue.International journal of molecular sciences · 2014Article
- Re: Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.Journal of the National Cancer Institute · 2014Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Formalin-fixed, paraffin-embedded tumors (FFPETs) are a valuable source of DNA for genotype association studies and are often the only germline DNA resource from cancer clinical trials. The anti-estrogen tamoxifen is metabolized into endoxifen by CYP2D6, leading to the hypothesis that patients with certain CYP2D6 genotypes may not receive benefit because of their inability to activate the drug. Studies testing this hypothesis using FFPETs have provided conflicting results. It has been postulated that CYP2D6 genotype determined using FFPET may not be accurate because of somatic tumor alterations. In this study, we determined the concordance between CYP2D6 genotypes generated using 3 tissue sources (FFPETs; formalin-fixed, paraffin-embedded unaffected lymph nodes [FFPELNs]; and whole blood cells [WBCs]) from 122 breast cancer patients. Compared with WBCs, FFPET and FFPELN genotypes were highly concordant (>94%), as were the predicted CYP2D6 metabolic phenotypes (>97%). We conclude that CYP2D6 genotypes obtained from FFPETs accurately represent the patient's CYP2D6 metabolic phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.