A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer

Cancer Res. 2008 Dec 1;68(23):9799-808. doi: 10.1158/0008-5472.CAN-08-0247.

Abstract

Tamoxifen therapy is a standard in the treatment of estrogen receptor (ER)-positive breast cancer; however, its efficacy varies widely among patients. In addition to interpatient differences in the tamoxifen-metabolizing capacity, there is growing evidence that crosstalk between ER and growth factor signaling contributes to tamoxifen resistance. We focused on TC21, a member of the Ras superfamily, to investigate the influence of the TC21 -582C>T promoter polymorphism on TC21 expression and treatment outcome. Immunohistochemical analyses of breast tumors revealed a higher TC21 expression in ER-negative compared with ER-positive tumors. Expression in ER-positive tumors was higher in carriers of the T allele in an allele dose-dependent manner. Quantitative real-time PCR analyses showed that TC21 mRNA expression is decreased after transfection of ERalpha in ER-negative breast cancer cells MDA-MB-231, UACC893, and BT-20. In MCF7 ER-positive cells, TC21 expression decreased with 17beta-estradiol treatment and increased after treatment with tamoxifen metabolites, 4-OH-tamoxifen, or endoxifen. In patients treated with adjuvant mono tamoxifen, high cytoplasmic TC21 tumor expression or the carriership of the -582T allele conferred increased recurrence rates [n=45: hazard ratio (HR), 3.06; 95% confidence interval (95% CI), 1.16-8.05; n=206: HR, 1.79; 95% CI, 1.08-3.00, respectively]. A combined analysis with the data of the known tamoxifen predictor CYP2D6 showed an improvement of outcome prediction compared with CYP2D6 or TC21 genotype status alone (per mutated gene HR, 2.35; 95% CI, 1.34-4.14). Our functional and patient-based results suggest that the TC21 -582C>T polymorphism improves prediction of tamoxifen treatment outcome in breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Antineoplastic Agents, Hormonal / pharmacology*
  • Breast Neoplasms / drug therapy*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / metabolism
  • Cell Line, Tumor
  • Chemotherapy, Adjuvant
  • Cytochrome P-450 CYP2D6 / genetics
  • DNA, Neoplasm / metabolism
  • Electrophoresis
  • Estrogen Receptor alpha / metabolism
  • Female
  • Genotype
  • Humans
  • Immunohistochemistry
  • Membrane Proteins / biosynthesis
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Middle Aged
  • Monomeric GTP-Binding Proteins / biosynthesis
  • Monomeric GTP-Binding Proteins / genetics*
  • Monomeric GTP-Binding Proteins / metabolism
  • Polymorphism, Genetic
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics
  • Tamoxifen / pharmacology*

Substances

  • Antineoplastic Agents, Hormonal
  • DNA, Neoplasm
  • Estrogen Receptor alpha
  • Membrane Proteins
  • RNA, Messenger
  • Tamoxifen
  • Cytochrome P-450 CYP2D6
  • RRAS2 protein, human
  • Monomeric GTP-Binding Proteins