Format

Send to

Choose Destination
See comment in PubMed Commons below
J Natl Cancer Inst. 2013 Sep 4;105(17):1332-4. doi: 10.1093/jnci/djt204. Epub 2013 Aug 19.

Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.

Author information

1
Breast Oncology Program, University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109-5942, USA. jimmyrae@umich.edu

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.

Comment in

PMID:
23958736
PMCID:
PMC3888280
DOI:
10.1093/jnci/djt204
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems Icon for PubMed Central
    Loading ...
    Support Center