scholarly journals The evaluation of PIK3CA gene variation and serum PI3K level in breast cancer risk and prognosis in Turkish population

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Elif Ulu ◽  
İlhan Yaylım ◽  
Soykan Arıkan ◽  
Canan Cacına
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Polymorphism ◽  
Tumor Progression ◽  
Turkish Population ◽  
Breast Cancer Patients ◽  
Clinical Value ◽  
Region Gene ◽  
Lipid Kinase

Abstract Objectives The PI3K (Phosphatidylinositol 3-kinase) is the member of lipid kinase family that plays important roles in tumorigenesis, cancer development and cell proliferation. In our study, we aimed to investigate the relationships between breast cancer risk and prognosis with PIK3CA rs6443624 (C>A) intron region gene polymorphism and serum PI3K levels. Methods A total of 61-patients with breast cancer and 101 controls were included to the study. PIK3CA polymorphism was detected by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique. Serum PI3K levels were measured by Enzyme-Linked Immuno Sorbent Assay (ELISA). Results PIK3CA (C>A) gene polymorphism genotype and allele distributions were no significant in cases and controls (p>0.05). The serum PI3K levels of breast cancer patients were found significantly higher than the control groups (p=0.033). There were not significant association between PIK3CA (C>A) gene polymorphism and clinic and prognostic parameters in our study group. We also evaluated serum PI3K levels in the term of tumor progression, but we did not observe any significant data. Conclusions We suggest that serum PI3K levels may play role in breast cancer risk and larger patient groups may have clinical value in assessment of the genetic risk and tumor progression of breast cancer.

Association of APC and MCC Polymorphisms with Increased Breast Cancer Risk in an Indian Population

2011 ◽  
Vol 26 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Nupur Mukherjee ◽  
Nilanjana Bhattacharya ◽  
Satyabrata Sinha ◽  
Neyaz Alam ◽  
Runu Chakravarti ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Signaling Pathway ◽  
Wnt Signaling Pathway ◽  
Minor Allele ◽  
Nucleotide Polymorphisms ◽  
Breast Cancer Patients ◽  
Increased Risk ◽  
Risk Of Cancer

The adenomatous polyposis coli (APC) and mutated in colorectal cancer (MCC) genes are key regulatory genes of the Wnt/β-catenin signaling pathway, which are independently involved in maintaining low levels of β-catenin in the cell. In addition to genetic and epigenetic alterations, some genetic polymorphisms in the genes associated with the Wnt signaling pathway have been reported to be associated with an increased risk of cancer, including breast cancer. In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India. We observed a significant association of the rs11283943 SNP with increased breast cancer risk. Two specific haplotypes involving the minor allele of rs11283943 were found to be associated with an increased breast cancer risk. Kaplan-Meier curves showed a significant association of the 2–2 genotype (genotype homozygous for the rs11283943 minor allele) with decreased survival (p=0.045) of the breast cancer patients in our study, in particular patients with early-onset BC.

scholarly journals Lack of Association between rs2067474 Polymorphism in Histamine Receptor H2Gene and Breast Cancer in Chinese Han Population

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wen-Ke Cai ◽  
Jia-Bin Zhang ◽  
Niu-Min Wang ◽  
Ying-Lin Wang ◽  
Can-Hu Zhao ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Chinese Han Population ◽  
Clinicopathological Parameters ◽  
Breast Cancer Patients ◽  
Chinese Han ◽  
Enhancer Element ◽  
Han Population

Histamine H2receptor (HRH2) was previously suggested to affect the proliferation of breast cancer cells and disease-free survival of breast cancer patients. Furthermore, a common polymorphism, rs2067474, was identified in an enhancer element of theHRH2gene promoter and was reported to be associated with various diseases including cancer. However, the relationship between this polymorphism and breast cancer risk and malignant degree remains unclear. The aim of this study was to clarify the clinical association of rs2067474 polymorphism with breast cancer. A total of 201 unrelated Chinese Han breast cancer patients and 238 ethnicity-matched health controls were recruited and rs2067474 polymorphism was genotyped. Logistic regression analyses were performed to calculate the odds ratios (ORs) as a measure of association of genotype with breast cancer according to 3 genetic models (dominant, recessive, and additive). Although the percentage of hormone receptor negative cases tended to be higher in AA genotypes, we did not find any significant associations of rs2067474 polymorphism with breast cancer risk or with related clinicopathological parameters in the present study, which indicates that rs2067474 polymorphism ofHRH2gene might not be a risk factor in the development of breast cancer in Chinese Han population.

scholarly journals Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

Blood ◽  
2019 ◽  
Vol 133 (10) ◽  
pp. 1130-1139 ◽  
Author(s):  
Annemieke W. J. Opstal-van Winden ◽  
Hugoline G. de Haan ◽  
Michael Hauptmann ◽  
Marjanka K. Schmidt ◽  
Annegien Broeks ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
General Population ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Hodgkin Lymphoma ◽  
Genetic Factors ◽  
Polygenic Risk Score ◽  
Control Analysis ◽  
Breast Cancer Patients

Abstract Female Hodgkin lymphoma (HL) patients treated with chest radiotherapy (RT) have a very high risk of breast cancer. The contribution of genetic factors to this risk is unclear. We therefore examined 211 155 germline single-nucleotide polymorphisms (SNPs) for gene-radiation interaction on breast cancer risk in a case-only analysis including 327 breast cancer patients after chest RT for HL and 4671 first primary breast cancer patients. Nine SNPs showed statistically significant interaction with RT on breast cancer risk (false discovery rate, <20%), of which 1 SNP in the PVT1 oncogene attained the Bonferroni threshold for statistical significance. A polygenic risk score (PRS) composed of these SNPs (RT-interaction-PRS) and a previously published breast cancer PRS (BC-PRS) derived in the general population were evaluated in a case-control analysis comprising the 327 chest-irradiated HL patients with breast cancer and 491 chest-irradiated HL patients without breast cancer. Patients in the highest tertile of the RT-interaction-PRS had a 1.6-fold higher breast cancer risk than those in the lowest tertile. Remarkably, we observed a fourfold increased RT-induced breast cancer risk in the highest compared with the lowest decile of the BC-PRS. On a continuous scale, breast cancer risk increased 1.4-fold per standard deviation of the BC-PRS, similar to the effect size found in the general population. This study demonstrates that genetic factors influence breast cancer risk after chest RT for HL. Given the high absolute breast cancer risk in radiation-exposed women, these results can have important implications for the management of current HL survivors and future patients.

scholarly journals Evaluating the Effect of Health Education Intervention on the Health Beliefs and Behaviors of First-Degree Female Relatives of Breast Cancer Patients

2021 ◽  
Author(s):  
Sule Olgun ◽  
Berna Dizer
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Health Education ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Health Beliefs ◽  
Breast Cancer Patients ◽  
History Of ◽  
And Behaviors

Abstract Background Breast cancer risk increases by 80% in the presence of BRCA1 and BRCA2 gene mutations in the same family. In particular, a woman whose sister or mother has breast cancer has a 2- to 5-fold higher risk of developing breast cancer compared with other women. For this reason, recommendations should have been made regarding breast cancer prevention and/or early detection for women with first-degree family history of breast cancer. Aim The aim of this study was to evaluate the effect of health education, which was provided to first-degree female relatives of breast cancer patients, on their health beliefs and behaviors. Study Design and Methods The study sample included 50 women with a first-degree relative being treated for breast cancer in the chemotherapy and radiotherapy unit of a university hospital. A one-group pretest-posttest design was used. The pretest consisted of the health belief model scale and a questionnaire regarding the women’s sociodemographic information and breast cancer screening behaviors. After the pretest, the patients received health education regarding breast cancer risk factors and screening methods. The posttest was conducted 3 weeks after the education using the same assessment tools. Results After education, there were statistically significant increases in rates of practicing breast self-examination, having clinical breast examinations, and undergoing breast ultrasound/mammography compared with pretest results. Conclusions Health workers should possess knowledge and experience about breast cancer which will enable them to effectively undertake an educational role, especially for high-risk groups such as women with first-degree family history of breast cancer.

Associations between polymorphisms at microRNA-binding sites in TYMS and breast cancer risk among Chinese women

2020 ◽  
Author(s):  
Meng Wang ◽  
Jia Yao ◽  
Yi Zheng ◽  
Yuyao Yao ◽  
Shuqian Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Chinese Women ◽  
Microarray Dataset ◽  
Tumor Stage ◽  
Recessive Model ◽  
Breast Cancer Patients ◽  
Chinese Han ◽  
Expression Levels

Abstract Studies have suggested that thymidylate (TYMS) polymorphisms are associated with breast cancer. However, inconsistent results were obtained and data from Asian populations are largely lacking. In this study, the relationships between two common TYMS polymorphisms (rs2790 and rs1059394) and the breast cancer risk were evaluated. We also studied the TYMS expression between tumor and para-carcinoma tissues, and the association between TYMS levels and prognosis of breast cancer. This hospital-based study included 434 patients and 450 cancer-free individuals. Genotying was performed using Sequenom Mass-ARRAY. The microarray dataset GSE115144 was downloaded to compare the differences in TYMS expression between tumor and para-carcinoma tissues. The microarray dataset GSE20685 was used to analysis the metastasis free survival (MFS) and overall survival (OS) of patients. The rs2790 polymorphism was related to a higher risk of breast cancer (recessive model: OR=1.50, 95%CI=1.02-2.21, P=0.038) and the C allele of rs1059394 was overrepresented in patients with tumor stage III-IV (heterozygote model: OR=0.60, 95%CI=0.39-0.94, P=0.025; dominant model: OR=0.59, 95%CI=0.39-0.89, P=0.013). The tumor tissues had a higher TYMS expression levels and patients with higher TYMS expression levels had worse OS. Overall, TYMS polymorphism may increase susceptibility to breast cancer in Chinese Han women and TYMS expression levels may be a predictive factor for breast cancer patients.

scholarly journals Glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) variants and breast cancer risk in Burkina Faso

2019 ◽  
Vol 10 (1) ◽  
pp. 175-183 ◽  
Author(s):  
Isabelle Touwendpoulimdé Kiendrebeogo ◽  
Abdou Azaque Zoure ◽  
Pegdwendé Abel Sorgho ◽  
Albert Théophane Yonli ◽  
Florencia Wendkuuni Djigma ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Sporadic Breast Cancer ◽  
Disease Stage ◽  
Breast Cancer Patients ◽  
Glutathione S Transferase ◽  
Increased Risk ◽  
Increased Susceptibility

AbstractBackground and objectiveBreast cancer remains the most common cause of cancer mortality in women. The aim of this study was to investigate associations between genetic variability in GSTM1 and GSTT1 and susceptibility to breast cancer.MethodsGenomic DNA was extracted from blood samples for 80 cases of histologically diagnosed breast cancer and 100 control subjects. Genotyping analyses were performed by PCR-based methods. Associations between specific genotypes and the development of breast cancer were examined using logistic regression to calculate odds ratios [1] and 95% confidence intervals (95%CI).ResultsNo correlation was found between GSTM1-null and breast cancer (OR = 1.83; 95%CI 0.90-3.71; p = 0.10), while GSTT1-null (OR = 2.42; 95%CI 1.17-5.02; p= 0.01) was associated with increased breast cancer risk. The GSTM1/GSTT1 double null was not associated with an increased risk of developing breast cancer (OR = 2.52; 95%CI 0.75-8.45; p = 0.20). Furthermore, analysis found no association between GSTM1-null (OR =1.12; 95%CI 0.08-15.50; p = 1.00) or GSTT1-null (OR = 1.71; 95%CI 0.13-22.51; p = 1.00) and the disease stage of familial breast cancer patients or sporadic breast cancer patients (GSTM1 (OR = 0.40; 95%CI 0.12-1.32; p = 0.20) and GSTT1 (OR = 1.41; 95%CI 0.39-5.12; p = 0.75)). Also, body mass index (BMI) was not associated with increased or decreased breast cancer risk in either GSTM1-null (OR = 0.60; 95%CI 0.21-1.68; p = 0.44) or GSTT1-null (OR = 0.60; 95%CI 0.21-1.68; p =0.45).ConclusionOur results suggest that only GSTT1-null is associated with increased susceptibility to breast cancer development.

Abstract PD6-5: The association between radiotherapy and contralateral breast cancer risk in youngBRCA1/2-associated breast cancer patients

2020 ◽  
Author(s):  
Mark van Barele ◽  
Delal Akdeniz ◽  
Bernadette AM Heemskerk-Gerritsen ◽  
Margreet HA Baaijens ◽  
Margriet GA Sattler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Contralateral Breast Cancer ◽  
Contralateral Breast ◽  
Breast Cancer Patients
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