The germline polymorphisms in signal-inducing proliferation-associated protein 1 (SIPA1) and ribosomal RNR processing 1B (RRP1B) might be involved in breast cancer metastasis. The aim of this study was to analyze how SIPA1 and RRP1B polymorphisms contribute to breast cancer phenotype, lymph node status and survival. A group of 100 young, I-II stage breast cancer patients were analyzed for SIPA1 and RRP1B polymorphisms with PCR-RFLP assay. SIPA1 c.2760G > A, c.545C > T and RRP1B c.436T > C polymorphisms were associated with lymph node status, survival and tumor grade, respectively. Our results suggest that SIPA1 and RRP1B germline polymorphisms are important for breast cancer prognosis.
The most important complications of Philadelphianegagive (non BCR-ABL) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the effects of single nucleotide polymorphisms (SNPs), platelet glycoproteins (GPs) (Ia/IIa, Ibα, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), β-fibrinogen, and the risk of thrombosis in patients with non BCR-ABL MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the GP Ia/IIa c.807C>T polymorphism was more frequently found in the group of MPN patients with arterial thrombosis compared to MPN patients who were thrombosis-free [26.5 vs. 11.5%, p = 0.049; odds ratio (OR) 2.68; 95% confidence interval (95% CI) 1.01-7.38]. The CT genotype of the β-fibrinogen c.-148C>T polymorphism occurred more frequently in MPN patients with arterial, and total thrombosis compared to the wild or homozygous genotype (57.7 vs. 40.0 vs. 12.5%; p = 0.027), (64.7 vs. 44.4 vs. 25%; p = 0.032), respectively. The carrier state for the c.-323P10 variant of FVII SNP (summation of P10/10 and P0/10) was more frequent in MPN patients with thrombosis compared to the wild-type genotype carriers (71.4 vs. 43.4%; p = 0.049; OR 3.26; 95% CI 1.01-11.31). The coexistence of heterozygous β-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP, increased the risk of arterial thrombosis (21.1 vs. 3.7%, p = 0.008; OR 6.93; 95% CI 1.38-34.80). The TT genotype of GP Ia/IIa c.807C>T, the CT genotype of β-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.
BackgroundBreast cancer is the most frequent oncological disease among women. Estrogens are known to play an important role in breast cancer development. Recognition of the relationship between polymorphisms within estrogen metabolizing genes and conventional prognostic factors of breast cancer might improve our knowledge on individualized breast cancer prognosis. Therefore, we aimed to investigate possible associations between germline genetic polymorphisms within GSTM1, GSTT1, GSTP1, SULT1A1 and UGT1A1 genes and breast cancer clinicopathological characteristics together with disease progression.MethodsOur study involved 80 young (younger than 50 years of age) breast cancer patients. PCR-based Restriction Fragment Length Polymorphism (RFLP) assay was used to determine GSTP1 and SULT1A1 genotypes. GSTM1 and GSTT1 null genotypes were detected by multiplex PCR. UGT1A1 polymorphism was investigated with microsatellite analysis. Relationships between genotypes and breast cancer clinicopathological features along with disease progression were estimated by Pearson‘s Chi-square test. Logistic regression analyses were performed to estimate the odds ratios associating different genotypes with clinicopathological characteristics and disease progression.ResultsThe study showed individuals with GSTT1 null genotype to have approximately 3.5 times higher risk for breast cancer progression than those with wild type genotype (OR = 3.472, 95% CI 1.043-11.559, P = 0.043). Moreover, SULT1A1 G638A AA genotype significantly increased the chances of HER2 molecular subtype breast cancer when compared to GG genotype (OR = 19.971, 95% CI 1.716-232.480, P = 0.017). Heterozygotes for GSTP1 A313G genotype were more likely to have positive lymph nodes in comparison to AA genotype carriers (OR = 2.803, 95% CI 1.049-7.487, P = 0.040). No significant correlation was determined for UGT1A1 A(TA)nTAA and GSTM1 +/- polymorphism alone or combined GTTT1 null and GSTM1 null genotype.ConclusionsConclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be uselful genetic markers for breast cancer prognosis. Further analyses on larger sample size are required to highlight the effect of GSTP1 G allele on breast cancer prognosis.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-015-0147-4) contains supplementary material, which is available to authorized users.
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