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 ◽  
...  

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.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e11584-e11584
Author(s):  
In Hae Park ◽  
Kyungran Ko ◽  
Ji Soo Choi ◽  
So-youn Jung ◽  
Seeyoun Lee ◽  
...  

e11584 Background: In Asian population, the peak incidence of breast cancer is women in their late forties. We investigated the association between volumetric breast density and breast cancer risk according to menstruation status and breast cancer subtypes in Korean women. Methods: We prospectively enrolled 509 newly diagnosed breast cancer patients and 1336 healthy control subjects who performed mammography at the National Cancer Center in Korea between Sep 2011 and Nov 2012. Breast density was estimated using volumetric breast composition measurement (VolparaTM). We collected clinical data including menstruation status, parity, BMI and use of postmenopausal hormones. For cancer patient, we additionally acquired following pathologic data: histologic type, tumor size and grade, receptor status, Ki-67, and nodal status. Results: Of a total of subjects, 1064 (57.7%) women were postmenopausal status. The risk of breast cancer increased progressively with increase in volumetric breast density (Ptrend <0.001) in all subjects. In addition, breast cancer risk increased in women < 60 years old (odds radio (OR) = 1.81), higher body mass index (BMI) (< 25kg/m2 vs. ≥ 25kg/m2) (OR = 2.41), and fewer childbirth (0/1 vs. ≥ 2) (OR=2.38). In postmenopausal women, higher breast density (category 4) showed a 3.00-fold (OR = 3.00, 95% confidence interval (CI) = 1.75-5.16, P<0.001) increased risk of breast cancer compared with lower breast density (category 1-2). In contrast, there was no such association in premenopausal women. The associations of volumetric breast density were stronger for HER2 positivity (Ptrend <0.019), and high Ki-67 (Ptrend <0.006) in postmenopausal breast cancer patients. There was a statistically significant association between lower breast density and hormone receptor (HR) positive/HER2 negative breast cancer (Ptrend <0.019). Conclusions: High volumetric breast density is associated with the risk of breast cancer having more aggressive tumor characteristics in postmenopausal women.


2020 ◽  
Vol 41 (10) ◽  
pp. 1363-1367
Author(s):  
Jie Shen ◽  
Renduo Song ◽  
Wong-Ho Chow ◽  
Hua Zhao

Abstract Deficiency in homologous recombination repair (HRR) capacity is frequently observed in breast tumors. However, whether HRR deficiency is a tumor-specific biomarker or a risk factor for breast cancer is unknown. In this two-stage study, using a host cell reactivation assay, we assessed the relationship between HRR capacity in peripheral blood lymphocytes (PBLs) and breast cancer risk. The discovery stage included 152 breast cancer patients and 152 healthy controls matched on age and race. HRR capacity was found to be significantly lower in Black women than in White women among controls (P = 0.015) and cases (P = 0.012). Among cases, triple negative breast cancer patients had significantly lower HRR capacity than ER+/PR+ breast cancer patients (P = 0.006). In risk assessment, HRR capacity was found to be significantly lower in cases than in controls (P &lt; 0.001), and decreased HRR capacity was associated with 1.42-fold increased risk of breast cancer (95% CI: 1.21, 2.53). In the validation stage, we assessed HRR capacity in a nested case–control study using pre-diagnostic samples. We found that decreased HRR capacity was associated with 1.21-fold increased risk of breast cancer (95% CI: 1.04, 4.58). In summary, our results demonstrate that decreased HRR capacity in PBLs is a risk factor for breast cancer.


2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 117s-117s
Author(s):  
V.S. Mishra

Background: Breast cancer is the most common cancer in Indian women with an annual incidence of 144,937 cases and mortality of 70,218. The perception of cancer risk has consistently been mentioned as major factor influencing the women, who are at increased risk of inherited breast and ovarian cancer. The overestimation of cancer risk has been associated with many negative outcomes like anxiety and distress for one's self and family. Study suggests that women those who have higher perceived breast cancer risk experience greater worry and disengage coping. Aim: The purpose of the study was to examine the perception of risk of breast cancer in sisters of newly diagnosed breast cancer patients and further examine the association with anxiety and alexithymia, as compared with healthy controls without a family history of breast cancer. Methods: The participants were requested to complete questionnaires including demographic and risk perception of breast cancer. The association of risk perception was evaluated by using the State Trait Anxiety Inventory Scale and Toronto Alexithymia Scale in sisters of breast cancer patients and healthy controls. Results: Sisters of 111 breast cancer patients and 123 healthy controls completed the questionnaire. Sisters with high perceived risk showed high scores on anxiety and alexithymia scale as compared with healthy control. Regression analysis showed significant association between perceived risk and anxiety (t=2.023, P < .05) and alexithymia factor difficulty in identifying feelings and total alexithymia score (t=6.787, P < .000 and 3.726, P < .000). Conclusion: Sisters of breast cancer patients showed significantly higher perceived risk, anxiety and alexithymia than their healthy counterparts. The sister's perception of breast cancer risk influences the anxiety and emotional experience. Our data emphasizes that medical professional should discuss risk appraisals to anxiety and emotional concerns in both breast cancer patients and their sisters to help them in coping with breast cancer and concerns in the family.


Author(s):  
Ainur R. Akilzhanova ◽  
Bagdat Nyshanbekkyzy ◽  
Zhannur M. Nurkina ◽  
Ivan I. Shtephanov ◽  
Abay K. Makishev ◽  
...  

Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations.Conclusions:Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 


2011 ◽  
Vol 26 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Nupur Mukherjee ◽  
Nilanjana Bhattacharya ◽  
Satyabrata Sinha ◽  
Neyaz Alam ◽  
Runu Chakravarti ◽  
...  

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.


2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wen-Ke Cai ◽  
Jia-Bin Zhang ◽  
Niu-Min Wang ◽  
Ying-Lin Wang ◽  
Can-Hu Zhao ◽  
...  

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.


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 ◽  
...  

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, &lt;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.


Author(s):  
Sule Olgun ◽  
Berna Dizer

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.


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