scholarly journals The IFN-Ɣ + 874 A/T polymorphism is associated with malignant breast cancer in a population from the southwest of Iran

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Hadi Rezaeean ◽  
Gholam Abbas Kaydani ◽  
Najmaldin Saki ◽  
Sasan Razmjoo ◽  
Maryam Labibzadeh ◽  
...  

Abstract Objective Breast cancer (BC) is one of the most common diseases in women globally, with an increasing number of deaths associated with it. Recently the role of polymorphisms in the genes encoding cytokines and immune cells has been demonstrated. This study aimed to evaluate the association of IFN-Ɣ + 874 A/T polymorphism with BC clinical symptoms. Results The study included 88 women with BC and 88 healthy women who had no history of cancer and were matched for age and sex. Allele-specific oligonucleotide-polymerase chain reaction technique was used to investigate the IFN-Ɣ polymorphism. Clinical data were obtained from the patients’ records. Our results showed that the frequencies of genotypes in the BC patients were not significantly different from the control subjects. However, in the patients, the AT genotype was associated with the risk of malignant BC. The age at BC diagnosis was not different in patients with AA and AT genotypes; however, it was significantly earlier in HER2 negative subjects (p = 0.002). Given the higher frequency of AT in malignant BC patients, our results confirm the association of the IFN-Ɣ polymorphism with the disease’s progression to a malignant state.

2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.


2017 ◽  
Vol 16 (4) ◽  
pp. 38-45
Author(s):  
D. A. Ryabchikov ◽  
I. K. Vorotnikov ◽  
T. P. Kazubskaya ◽  
S. S. Lukina ◽  
E. A. Filippova ◽  
...  

Background. Epigenetic changes of TSG are supposed as the most fine and active genes regulation mechanism in particular breast cancer (BC) genes pathway development. The most valuable results are awaited for methylation role of genes located on the short arm of chromosome 3 with also MGMT gene (10q26) in BC pathogenesis because of their ambiguous data for methylation status in tumors. Objective: to illustrate the specific methylation role of the RASSF1A, SEMA3B, RARß2, RHOA, GPX1, USP4, DAG1, NKIRAS1 and MGMT genes promoter regions in BC pathogenesis. Materials and methods. Sample set of 174 BC patients consists of tumor and surrounding histologically normal tissue that were collected and clinically characterized in the N.N. Blokhin National Medical Research Center of Oncology. Two substantive methods were used to evaluate DNA methylation status. To analyse RASSF1A, SEMA3B, RARß2 and MGMT genes methylation we used polymerase chain reaction specific for the methylated allele. Whereas for analyses RHOA, GPX1, USP4, DAG1, NKIRAS1 promoter regions genes methylation status was used methyl sensitive restriction analyses with 2 methyl sensitive endonuclaeses HpaII and HhaI with subsequent polymerase chain reaction. Results. A statistically significant high frequency of RASSF1A, SEMA3B, RARß2, and MGMT genes methylation in epithelial breast tumors compared with histologically normal tissue from the same patients was shown. Significant correlation of RARß2 and MGMT genes methylation frequency considering the different clinical and morphological characteristics of the malignant process was revealed. The statistically significant relationship between methylation of RASSF1A, RARß2 and MGMT genes and patient survival is shown for the first time. Conclusion. The findings of epigenetic changes in the luminal BC supplement the “molecular picture” of this cancer and contribute to an understanding of its pathogenesis. The revealed features of investigated genes methylation can find clinical application for the development of modern approaches to prognosis, prevention and choice of tactics for treatment of BC in females of the Moscow region.


2018 ◽  
Vol 46 (5) ◽  
pp. 1928-1935 ◽  
Author(s):  
Li Liu ◽  
Bo Yin ◽  
Kawai Shek ◽  
Daoying Geng ◽  
Yiping Lu ◽  
...  

Objective To investigate the role of quantitative analysis of T2 relaxation time in the magnetic resonance imaging (MRI) diagnosis of breast cancer. Methods The study enrolled patients with clinical breast masses who were examined using MRI at eight different echo times. The differences in T2 relaxation time of benign and malignant breast lesions were analysed. Results A total of 67 patients (67 breast lesions: 46 malignant, 21 benign) were examined. The mean ± SD T2 relaxation time was significantly lower in the 46 malignant lesions compared with the 21 benign lesions (82.69 ± 15.37 ms versus 95.48 ± 26.51 ms, respectively). The area under the curve was 0.731. Using 79.52 ms as the cut-off between benign and malignant breast lesions, a sensitivity of 85.7% and a specificity of 58.7% were obtained. Conclusions There was a significant difference in T2 relaxation time between benign and malignant breast lesions. The specificity of using T2 relaxation time alone for the differentiation of benign from malignant lesions was not high, but it could constitute a new adjunct in the MRI diagnosis of breast cancer.


2005 ◽  
Vol 129 (6) ◽  
pp. 794-797
Author(s):  
Sean M. Hussey ◽  
Rita Gander ◽  
Paul Southern ◽  
Mai P. Hoang

Abstract Primary subcutaneous phaeohyphomycosis can rarely be caused by Cladophialophora bantiana, and we present the histologic and culture findings of such a case. A 32-year-old African American woman with systemic lupus erythematosus presented with a 2-year history of multiple, recurrent, tender, and ulcerated skin nodules with purulent drainage on her upper back. Histologic sections of the excision demonstrated features of phaeohyphomycosis. Culture findings were characteristic of C bantiana. Of interest, at age 10 she had sustained traumatic implantation of wood splinters into this area during a tornado, yet clinical symptoms of a subcutaneous infection did not manifest until she developed lupus erythematosus at age 27. Our case highlights the role of trauma and immunosuppression in the pathogenesis of subcutaneous phaeohyphomycosis.


2011 ◽  
Vol 07 (02) ◽  
pp. 116
Author(s):  
Yogesh Gandhi ◽  
Sunil Gandhi ◽  
◽  

An accurate cancer diagnosis is critical as it can direct the use of site-directed, and potentially more effective, treatment options for specific types of cancer. A differential or uncertain diagnosis could prevent cancer patients from receiving optimal treatment, thus affecting their overall prognosis. Advances in molecular technology have led to the development of molecular cancer classifiers that can direct or confirm the diagnosis of metastatic cancers which would otherwise be considered uncertain or unknown. This case report describes the role of molecular diagnostics in the evaluation of a patient with a large pancreatic mass and a history of breast cancer. Results from a 92-gene molecular profiling assay (CancerTYPE ID®) predicted that this new mass was breast cancer. This diagnosis allowed for effective treatment and complete response in this patient.


2020 ◽  
Vol 8 (1) ◽  
pp. 34-40
Author(s):  
Maitham Yousif

It has been hypothesized that human cytomegalovirus (CMV) may be associated with many cancers in human. However, the role of CMV infection in breast cancer remains unclear. We aimed to assess whether CMV infection have a role in development of breast cancer. A 120 women presented to breast cancer clinic with breast mass. Full history from each woman was taken, full examination including breast examination and lymph-node. Blood was aspirated from each woman for detection of CMV IgG, IgM, tp53 and CA15-3 by ELISA. A 50 patients were documented to have breast cancer by histopathological examination. The study reveal that was heights level of CMV IgG and IgM among patients with malignant breast mass (12/50) and (8/50) respectively in other side the lowest level in benign tumor (6/50) and (2/50) respectively and high prevalence of CMV in breast cancer. In conclusion There is strong evidence suggest that CMV has an important role in the development of breast cancer.


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