Study of ABCB1 polymorphism frequency in breast cancer patients from Poland

Rubiś, Błażej; Hołysz, Hanna; Barczak, Wojciech; Gryczka, Robert; Lacinski, M.; Jagielski, Paweł; Czernikiewicz, Anna; Półrolniczak, Anna; Wojewoda, A; Perz, Katarzyna; Białek, Paweł; Morze, Karolina; Kanduła, Zuzanna; Lisiak, Natalia; Mrozikiewicz, P.M.; Grodecka-Gazdecka, Sylwia; Rybczyńska, Maria

doi:10.1016/s1734-1140(12)70954-4

Cited by 23 publications

(18 citation statements)

References 28 publications

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“…These findings are concordant with those in a study by Rubis et al (2012) that involved 209 patients and 202 controls from Poland [cases: GG = 43.5, GT+GA = 44.5 and AA+TT = 12%; controls: GG = 34%, GT+GA = 52.5% and AA+TT = 13.5%]. On the other hand, six studies (2 involving BC patients and 4 involving patients with all cancers) from seventeen studies that evaluated G2677A/T polymorphism that were included in a meta-analysis revealed TT genotypes of G2677A/T to be associated with cancer risk in general (Wang et al, 2013a).…”

Section: Discussionsupporting

confidence: 93%

Influence of Genotype and Haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the Incidence of Breast Cancer - a Case-Control Study in Jordan

Abuhaliema¹,

Yousef²,

Elmadany³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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Section: Discussionsupporting

confidence: 93%

Influence of Genotype and Haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the Incidence of Breast Cancer - a Case-Control Study in Jordan

Abuhaliema¹,

Yousef²,

Elmadany³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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“…In agreement with a number of previous reports [16, 18, 21, 23, 24], our findings revealed no significant association between this polymorphism and breast cancer development. Otherwise, Gutierrez-Rubio et al [24] did not find differences in the distribution of C3435T polymorphism between breast cancer patients and controls.…”

Section: Discussionsupporting

confidence: 93%

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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“…This non-synonymous variation is associated with altered P-gp activity. To date there have been vast number of reports correlating the presence of these three SNPs with treatment response and disease predisposition and progression (renal tumor, Chron's disease and ulcerative colitis, Parkinson's disease, schizophrenia, Alzheimer, HIV infection) [9,[17][18][19][20][21]. Most common approach in determination of the influence of gene variation is haplotype assessment because it may provide a better understanding of the observed inconsistences and are promising predictor of the functional consequences of ABCB1 polymorphisms.…”

mentioning

confidence: 99%

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Naumovska

Nestorovska

Sterjev

et al. 2014

Prilozi

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The aim of this study was to evaluate the most common ABCB1 (MDR1, P-glycoprotein) polymorphisms in the population of R. Macedonia and compare the allele and haplotype frequencies with the global geographic data reported from different ethnic populations. The total of 107 healthy Macedonian individuals from the general population was included. Genotypes for the ABCB1 for three polymorphisms C1236T [rs1128503], G2677A/T [rs2032582] and C3435T [rs1045642] were analyzed by Real-Time PCR. Obtained allele frequencies for these three SNPs were similar to those observed in other European Caucasians. The detected genotype frequencies were 33.6% for 1236CC, 44.9% for 1236CT and 21.5% for 1236TT in exon 12; 32.7%, 44.9% and 22.4% for 2677GG, 2677GT and 2677GT consecutively in exon 21; and 25.2% for 3435CC, 52.3% for 3435CT and 22.5% for 3435TT in exon 26.Strong LD was observed in our study among all = 0.859, r 2 = 0.711). Eight different haplotypes were identified and the most prominent was the CGC haplotype (45.3%). Our study was the first to have documented the distribution of ABCB1 alleles, genotypes and haplotypes in the population of R. Macedonia. The obtained results can help in the prediction of different response to the drugs that are P-glycoprotein substrates. Additionally, in the era of individualized medicine the determination of the P-glycoprotein genotype might be a good predictive marker for determination of the subpopulations with higher risk to certain diseases.

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Study of ABCB1 polymorphism frequency in breast cancer patients from Poland

Cited by 23 publications

References 28 publications

Influence of Genotype and Haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the Incidence of Breast Cancer - a Case-Control Study in Jordan

Influence of Genotype and Haplotype of MDR1 (C3435T, G2677A/T, C1236T) on the Incidence of Breast Cancer - a Case-Control Study in Jordan

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

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

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