CYP2D6*3 (A2549del), *4 (G1846A), *10 (C100T) and *17 (C1023T) genetic polymorphisms in Iranian breast cancer patients treated with adjuvant tamoxifen

Abstract

There is controversy regarding the efficacy of tamoxifen in breast cancer patients who are carriers of cytochrome P450 2D6 (CYP2D6) gene polymorphisms. Poor metabolizer genotypes may not fully convert tamoxifen to its active metabolite endoxifen and thus have less exposure to anti-estrogen therapy. The present study was conducted to identify the prevalence of CYP2D6 genotypes among Iranian breast cancer patients. A total of 84 estrogen receptor-positive breast cancer patients treated at a referral center in the north of Iran were examined.

Frequency of Important CYP450 Enzyme Gene Polymorphisms in the Iranian Population in Comparison with Other Major Populations: A Comprehensive Review of the Human Data

“…There are also several studies on evaluating the polymorphisms of most important CYP450 enzymes in IRNs with similar mentioned limitations (investigating some specific CYP450 enzymes, examining only limited number of alleles, and/or recruiting a limited number of participants). Moreover, relying on the results of these studies can be problematic due to the different underlined genotyping strategies and designed assay panels [ 28 , 34 , 35 , 36 ].…”

Predicting steady‐state endoxifen plasma concentrations in breast cancer patients by CYP2D6 genotyping or phenotyping. Which approach is more reliable?

“…Genotyping was conducted using PCR/RLFP‐based methods for CYP2D6*3 ( 2549 A del, rs35742686 ), CYP2D6*4 (1846G>A, rs3892097) , CYP2D6*6 (1707T del, rs5030655 ), CYP2D6*9 (2615_2617del AAG, rs5030656), CYP2D6*10 (100C>T, rs1065852), with digestion by MspI, BstN1, BtsI, MboII, and HphI, respectively, as in other studies 15‐18 …”

Genetic and molecular biology of breast cancer among Iranian patients

“…Moreover, heterozygote variant was more frequent in pre-menopausal patients, highlighting the role of this variation in early onset of BC among a group of Iranian patients in Eastern Azerbaijan [173]. Non functional CYP2D6*4 and 10 alleles were also frequent among BC patients in Northern Iran [174]. Tamoxifen is treatment option of ER-positive BC in premenopausal women [175, 176].…”