Association of ABCB1 and ABCG2 single nucleotide polymorphisms with clinical findings and response to chemotherapy treatments in Kurdish patients with breast cancer

Ghafouri, Houshiyar; Ghaderi, Bayazid; Amini, Sabrieh; Nikkhoo, Bahram; Abdi, Mohammad; Hoseini, Abdolhakim

doi:10.1007/s13277-015-4679-1

Cited by 32 publications

(29 citation statements)

References 36 publications

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“…On the other hand, the authors suggested strong linkage disequilibrium with other polymorphisms in ABCB1 gene and alterations in the post translational pathway which influences the efficacy and stability of P-gp in patients with CC genotype [26]. Similarly, in Kurdish patients the frequency of CC genotype and C allele were higher in patients than in controls; this result was not statistically significant [25]. …”

Section: Discussionmentioning

confidence: 99%

“…In this line, Turgut et al [13], Wu et al [20] and Macías-Gómezdid et al [23] have reported similar results. However, Ghafouri et al have found a significant correlation between ABCB1 C3435T polymorphism and clinical grades of breast cancer with higher grade in CC carriers ( P = 0.027) [25]. On the other hand, Wu et al [20] observed that patients with a negative status of ER and PR have more CT + TT genotypes than CC genotype ( P = 0.013).…”

Section: Discussionmentioning

confidence: 99%

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Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis

et al. 2016

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BackgroundBreast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results are conflicting. In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population.MethodsA case control study was performed on 60 breast cancer patients and 68 healthy women. The ABCB1 C3435T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Furthermore, a meta-analysis including 16 studies with 6094 cases of breast cancer and 8646 controls was performed.ResultsGenotype frequencies were 50 % for CC, 33.3 % for CT and 16.7 % for TT in patients and 41.2 % for CC, 48.5 % for CT and 10.3 % for TT respectively in the control group. This difference was not statistically significant. The same trend as observed in the allele distribution between patients and controls (P = 0.84). Findings from the meta-analysis showed that the ABCB1 C3435T polymorphism was not associated with an increased risk of breast cancer in the dominant model (OR = 0.907; 95 % CI = 0.767–1.073; P = 0.25) as well as in the recessive model (OR = 1.181; 95 % CI = 0.973–1.434; P = 0.093) and in the allele contrast model (OR = 1.098; 95 % CI = 0.972–1.240; P = 0.133). However, the stratification of studies on ethnic basis showed that the TT genotype was associated with the risk of breast cancer in Asians (OR = 1.405; 95 % CI = 1.145–1.725; P = 0.001), Caucasians (OR = 1.093; 95 % CI = 1.001–1.194; P = 0.048) and North African (OR = 2.028; 95 % CI = 1.220–3.371; P = 0.006).ConclusionsWe have noted that the implication of C3435T variant on the risk of breast cancer was ethnicity-dependent. However, there is no evidence that ABCB1 C3435T polymorphism could play a role in susceptibility to breast cancer in Morocco. Further studies with a larger sample size, extended to other polymorphisms are needed to understand the influence of ABCB1 genetic variants on the risk of breast cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis

et al. 2016

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“…In Q141K-expressing cell lines, daunorubicin and doxorubicin were found to show increased accumulation compared with wild type (Tamura et al, 2007b), but worse outcomes were shown in Q141K acute myeloid leukemia patients treated with idarubicin (Tiribelli et al, 2013). In addition, the presence of the 421C allele was indicative of a weaker treatment response to anthracyclines in a Kurdish population (Ghafouri et al, 2016). The same study showed Q141K produced a weaker response to the taxane paclitaxel (Ghafouri et al, 2016), although Q141K patients were associated with longer progression-free survival when treated with paclitaxel and platinum therapy in a study on ovarian cancer patients (Tian et al, 2012).…”

Section: Q141k (Rs2231142)mentioning

confidence: 97%

“…In addition, the presence of the 421C allele was indicative of a weaker treatment response to anthracyclines in a Kurdish population (Ghafouri et al, 2016). The same study showed Q141K produced a weaker response to the taxane paclitaxel (Ghafouri et al, 2016), although Q141K patients were associated with longer progression-free survival when treated with paclitaxel and platinum therapy in a study on ovarian cancer patients (Tian et al, 2012). Another taxane, docetaxel, was shown in a recent study to have reduced resistance in Q141K carriers compared with wild type (Sobek et al, 2017), despite Q141K previously having been shown to have no influence on docetaxel disposition (Baker et al, 2009;Chew et al, 2011).…”

Section: Q141k (Rs2231142)mentioning

confidence: 99%

Polymorphisms of the Multidrug Pump ABCG2: A Systematic Review of Their Effect on Protein Expression, Function, and Drug Pharmacokinetics

2018

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The widespread expression and polyspecificity of the multidrug ABCG2 efflux transporter make it an important determinant of the pharmacokinetics of a variety of substrate drugs. Null ABCG2 expression has been linked to the Junior blood group. Polymorphisms affecting the expression or function of ABCG2 may have clinically important roles in drug disposition and efficacy. The most well-studied single nucleotide polymorphism (SNP), Q141K (421C>A), is shown to decrease ABCG2 expression and activity, resulting in increased total drug exposure and decreased resistance to various substrates. The effect of Q141K can be rationalized by inspection of the ABCG2 structure, and the effects of this SNP on protein processing may make it a target for pharmacological intervention. The V12M SNP (34G>A) appears to improve outcomes in cancer patients treated with tyrosine kinase inhibitors, but the reasons for this are yet to be established, and this residue's role in the mechanism of the protein is unexplored by current biochemical and structural approaches. Research into the less-common polymorphisms is confined to in vitro studies, with several polymorphisms shown to decrease resistance to anticancer agents such as SN-38 and mitoxantrone. In this review, we present a systematic analysis of the effects of ABCG2 polymorphisms on ABCG2 function and drug pharmacokinetics. Where possible, we use recent structural advances to present a molecular interpretation of the effects of SNPs and indicate where we need further in vitro experiments to fully resolve how SNPs impact ABCG2 function.

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“…The molecular mechanism of disease development has not yet been fully understood, attention is paid to the simultaneous participation of many environmental and genetic factors. Genetic variants like SNPs may be a protective or risk factor in the cancer development and be correlated with response to chemotherapy [5,6].…”

Section: Introductionmentioning

confidence: 99%

Association of ABCB1 T-129C polymorphism and multiple myeloma risk in Polish population

Niebudek¹,

Balcerczak²,

Mirowski³

et al. 2018

pjp

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The possible interaction between gene polymorphism and cancer risk development is a very interesting issue. The genetic variants of the ATP-binding cassette superfamily B member 1 (ABCB1) are known to be involved in developing cancer risk and individual differences in chemotherapeutic response. Polymorphisms may affect the reduction of the activity and/or expression of important protective cellular proteins. The increased exposure to toxic compounds, including carcinogens is associated with an increased risk of developing cancers. The present study was aimed to evaluate the possible effect of ABCB1 T-129C single nucleotide polymorphism in risk of cancer development in Polish patients diagnosed with multiple myeloma. 91 multiple myeloma patients and 94 healthy controls were enrolled in this case-control study. The ABCB1 T-129C genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). The distribution of particular genotypes between multiple myeloma patients and controls group was not significantly different for T-129C SNP (p = 0.4297). The studied polymorphism does not seem to affect the increased risk of multiple myeloma development.

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Association of ABCB1 and ABCG2 single nucleotide polymorphisms with clinical findings and response to chemotherapy treatments in Kurdish patients with breast cancer

Cited by 32 publications

References 36 publications

Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis

Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis

Polymorphisms of the Multidrug Pump ABCG2: A Systematic Review of Their Effect on Protein Expression, Function, and Drug Pharmacokinetics

Association of ABCB1 T-129C polymorphism and multiple myeloma risk in Polish population

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