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 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.

FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma

Blood ◽  
2012 ◽  
Vol 119 (4) ◽  
pp. 1029-1031 ◽  
Author(s):  
Yussanne P. Ma ◽  
Flora E. van Leeuwen ◽  
Rosie Cooke ◽  
Annegien Broeks ◽  
Victor Enciso-Mora ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Hodgkin Lymphoma ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Control Series ◽  
Cancer Risk Factors ◽  
Increased Risk

Abstract Women treated at young ages with supradiaphragmatic radiotherapy for Hodgkin lymphoma (HL) have a highly increased risk of breast cancer. For personalized advice and follow-up regimens for patients, information is needed on how the radiotherapy-related risk is affected by other breast cancer risk factors. Genome-wide association studies have identified 14 independently replicated common single nucleotide polymorphisms that influence breast cancer risk. To examine whether these variants contribute to risk of radiation-associated breast cancer in HL, we analyzed 2 independent case-control series, from the United Kingdom and The Netherlands, totaling 693 HL patients, 232 with breast cancer and 461 without. rs1219648, which annotates the FGFR2 gene, was associated with risk in both series (combined per-allele odds ratio = 1.59, 95% confidence interval: 1.26-2.02; P = .000111). These data provide evidence that genetic variation in FGFR2 influences radiation-induced breast cancer risk.

scholarly journals Methylation of WT1, CA10 in peripheral blood leukocyte is associated with breast cancer risk: a case-control study

2020 ◽  
Author(s):  
Anqi Ge ◽  
Song Gao ◽  
Yupeng Liu ◽  
Hui Zhang ◽  
Xuan Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control Study ◽  
Case Control ◽  
Elevated Risk ◽  
Luminal B ◽  
Increased Risk ◽  
Risk Of Cancer ◽  
Control Study

Abstract Background: Studies have shown that abnormal changes of specific-gene DNA methylation in leukocytes may be associated with an elevated risk of cancer. However, associations between the methylation of the zinc-related genes, WT1 and CA10, and breast cancer risk remain unknown. Methods: The methylation of WT1 and CA10 was analyzed by methylation-sensitive high-resolution-melting (MS-HRM) in a case-control study with female subjects (N=959). Logistic regression was used to analyze the associations, and propensity score (PS) method was used to adjust confounders. Results: The results showed that WT1 hypermethylation was associated with an increased risk of breast cancer, with an odds ratio (OR) of 3.07 [95% confidence interval (CI): 1.67-5.64, P<0.01]. Subgroup analyses showed that WT1 hypermethylation was specifically associated with an elevated risk of luminal A subtype (OR=2.62, 95% CI: 1.11-6.20, P=0.03) and luminal B subtype (OR=3.23, 95% CI: 1.34-7.80, P=0.01). CA10 hypermethylation was associated with an increased risk of luminal B subtype (OR=1.80, 95% CI: 1.09-2.98, P=0.02). Conclusion: The results of the present study suggest that the hypermethylation of WT1 methylation in leukocytes is significantly associated with an increased risk of breast cancer. The hypermethylation of WT1 is associated with an increased risk of luminal subtypes of breast cancer, and the hypermethylation of CA10 is associated with an increased risk of luminal B subtype of breast cancer.

Higher volumetric breast density to predict risk for aggressive breast cancer subtype in postmenopausal Korean women.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e11584-e11584
Author(s):  
In Hae Park ◽  
Kyungran Ko ◽  
Ji Soo Choi ◽  
So-youn Jung ◽  
Seeyoun Lee ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Postmenopausal Women ◽  
Cancer Patients ◽  
Breast Density ◽  
Korean Women ◽  
Breast Cancer Patients ◽  
Ki 67 ◽  
Increased Risk

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.

scholarly journals Association of the Three Common SNPs of Cyclooxygenase-2 Gene (rs20417, rs689466, and rs5275) with the Susceptibility of Breast Cancer: An Updated Meta-Analysis Involving 34,590 Subjects

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Zhi-Jun Dai ◽  
Yong-Ping Shao ◽  
Xiao-Bin Ma ◽  
Dan Xu ◽  
Wei Tang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Cyclooxygenase 2 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Cancer Types ◽  
Cox 2

Several single nucleotide polymorphisms have been identified in cyclooxygenase-2 (COX-2) genes (e.g., −765 G>C (rs20417), −1195G>A (rs689466), and 8473 C>T (rs5275)). The association of these SNPs with the risk of different cancer types is still controversial. This study aims to evaluate the correlation between these SNPs and breast cancer risk in different ethnic groups. We have searched PubMed, Web of Knowledge, and Embase for relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the associations. A total of 13 studies (15,330 cases and 19,260 controls) were eligible for meta-analysis. This meta-analysis showed that COX-2 rs20417 polymorphism was correlated with an increased risk of breast cancer in Caucasians, while rs689466 was associated with a decreased risk of breast cancer in Caucasians. The rs5275 polymorphism had no association with breast cancer risk.

scholarly journals Association of VEGF Haplotypes with Breast Cancer Risk in North-West Indians

2020 ◽  
Author(s):  
Vasudha Sambyal ◽  
Kamlesh Guleria ◽  
Ruhi Kapahi ◽  
Mridu Manjari ◽  
Meena Sudan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Critical Role ◽  
Obese Patients ◽  
West Indians ◽  
Breast Cancer Patients ◽  
North West ◽  
Increased Risk ◽  
Reduced Risk

Abstract Background: Angiogenesis is a complex and coordinated process regulated by different growth factors and is one of the hallmark features of cancer. VEGF is one of the most important endothelial cell mitogen and has a critical role in normal physiological and tumor angiogenesis. The objective of this study was to investigate the potential association of haplotypes of six VEGF polymorphisms with breast cancer risk in North-West Indians. Methods: Samples of 250 breast cancer patients and 250 age and gender matched controls were genotyped for VEGF -2578C/A, -2549I/D, -460T/C, +405C/G, -7C/T and +936C/T polymorphisms. Haplotypes were generated to determine the better contribution of VEGF polymorphisms to breast cancer risk. Results: Haplotypes CDTCCC (OR = 0.56, 95%CI, 0.38-0.81; p = 0.003) and CDTGCC (OR = 0.63, 95%CI, 0.44-0.92; p = 0.018) of VEGF -2578C/A, -2549I/D, -460T/C, +405C/G, -7C/T and +936C/T polymorphisms were significantly associated with decreased risk of breast cancer. CDTCCC haplotype was also significantly associated with reduced risk of breast cancer in pre and post menopausal as well as both obese and non obese patients. Haplotype CDTGCC was marginally associated (p = 0.07) with reduced risk of breast cancer in non-obese patients as compared with non-obese controls where as haplotype AICGTC was marginally associated (p = 0.09) with reduced risk of breast cancer in obese patients when compared with non-obese patients. The CDTGCC haplotype was significantly associated with increased risk of breast cancer in premenopausal obese patients (OR = 1.98, 95%CI, 1.10-3.56; p = 0.02). Conclusions: Our data indicated that CDTCCC and CDTGCC haplotypes of VEGF -2578C/A, -2549I/D, -460T/C, +405C/G, -7C/T and +936C/T polymorphisms were significantly associated with breast cancer risk in North-West Indians. Further studies on multiethnic groups with larger sample size are required to confirm our results.

scholarly journals Women’s health behaviour change after receiving breast cancer risk estimates with tailored screening and prevention recommendations

BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Linda Rainey ◽  
Daniëlle van der Waal ◽  
Louise S. Donnelly ◽  
Jake Southworth ◽  
David P. French ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Risk Communication ◽  
Personal Characteristics ◽  
Degree Relative ◽  
Increased Risk ◽  
Screening And Prevention ◽  
Secondary Breast Cancer ◽  
Risk Of Cancer

Abstract Background The Predicting Risk of Cancer at Screening (PROCAS) study provided women who were eligible for breast cancer screening in Greater Manchester (United Kingdom) with their 10-year risk of breast cancer, i.e., low (≤1.5%), average (1.5–4.99%), moderate (5.-7.99%) or high (≥8%). The aim of this study is to explore which factors were associated with women’s uptake of screening and prevention recommendations. Additionally, we evaluated women’s organisational preferences regarding tailored screening. Methods A total of 325 women with a self-reported low (n = 60), average (n = 125), moderate (n = 80), or high (n = 60) risk completed a two-part web-based survey. The first part contained questions about personal characteristics. For the second part women were asked about uptake of early detection and preventive behaviours after breast cancer risk communication. Additional questions were posed to explore preferences regarding the organisation of risk-stratified screening and prevention. We performed exploratory univariable and multivariable regression analyses to assess which factors were associated with uptake of primary and secondary breast cancer preventive behaviours, stratified by breast cancer risk. Organisational preferences are presented using descriptive statistics. Results Self-reported breast cancer risk predicted uptake of (a) supplemental screening and breast self-examination, (b) risk-reducing medication and (c) preventive lifestyle behaviours. Further predictors were (a) having a first degree relative with breast cancer, (b) higher age, and (c) higher body mass index (BMI). Women’s organisational preferences for tailored screening emphasised a desire for more intensive screening for women at increased risk by further shortening the screening interval and moving the starting age forward. Conclusions Breast cancer risk communication predicts the uptake of key tailored primary and secondary preventive behaviours. Effective communication of breast cancer risk information is essential to optimise the population-wide impact of tailored screening.

scholarly journals Homologous recombination repair capacity in peripheral blood lymphocytes and breast cancer risk

2020 ◽  
Vol 41 (10) ◽  
pp. 1363-1367
Author(s):  
Jie Shen ◽  
Renduo Song ◽  
Wong-Ho Chow ◽  
Hua Zhao
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Peripheral Blood Lymphocytes ◽  
Homologous Recombination Repair ◽  
Breast Cancer Patients ◽  
Increased Risk ◽  
Recombination Repair

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.

Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk

2019 ◽  
Vol 19 (8) ◽  
pp. 579-588 ◽  
Author(s):  
Ying Wei ◽  
Xiaolin Wang ◽  
Zhe Zhang ◽  
Mingrui Xie ◽  
Yuyao Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Breast Cancer Patients ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Background: Single-nucleotide polymorphisms (SNPs) are important indicators of susceptibility to breast cancer. Objective: To assess the associations between SNPs in the FAM13A, PHLDB1, and CYP24A1 gene and breast cancer risk in the Chinese Han population. Methods: We performed a case-control study including 379 female breast cancer patients and 407 female healthy controls. The three SNPs were genotyped using Agena MassARRAY platform. The χ2 test was used to compare alleles and genotypes frequencies of polymorphisms between case and control groups. Genetic models analyses to assess the associations between SNPs and breast cancer risk by computing odds ratios (ORs) and 95% confidence intervals (CIs) using logistic regression. RegulomeDB and HaploReg databases were used to calculate possible functional effects of polymorphisms. Results: Overall analysis results showed that rs4809957 was associated with an increased risk of breast cancer (allele A: OR = 1.27, 95% CI: 1.03-1.55, p = 0.024; AA vs. GG: OR = 1.80, 95% CI: 1.15–2.82, p = 0.010; recessive model: OR = 1.70, 95% CI: 1.12–2.58, p = 0.012); and rs1059122 was found to be associated with a reduced breast cancer risk in the recessive model (OR = 0.71, 95% CI: 0.51–0.98, p = 0.039). Stratification analysis found significant associations between the three SNPs (rs1059122, rs17748, and rs4809957) and breast cancer risk. Conclusion: Our results suggested that rs1059122 (FAM13A), rs17748 (PHLDB1), and rs4809957 (CYP24A1) might contribute to breast cancer susceptibility in the Chinese Han population. Future studies with large samples are required to confirm our findings, as well as functional studies are needed to explore their function in the breast cancer development.

scholarly journals Genetic Polymorphisms in the EGFR (R521K) and Estrogen Receptor (T594T) Genes, EGFR and ErbB-2 Protein Expression, and Breast Cancer Risk in Tunisia

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Imen Kallel ◽  
Maha Rebai ◽  
Abdelmajid Khabir ◽  
Nadir R. Farid ◽  
Ahmed Rebaï
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Estrogen Receptor Alpha ◽  
Growth Factor Receptor ◽  
Her2 Overexpression ◽  
Nucleotide Polymorphisms ◽  
Breast Cancers ◽  
Breast Cancer Patients

We evaluated the association of epidermal growth factor receptor (EGFR) 142285G>A (R521K) and estrogen receptor alpha (ESR1) 2014G>A (T594T) single nucleotide polymorphisms with breast cancer risk and prognosis in Tunisian patients. EGFR 142285G>A and ESR1 2014G>A were genotyped in a sample of 148 Tunisian breast cancer patients and 303 controls using PCR-RFLP method. Immunohistochemitsry was used to evaluate the expression levels of EGFR, HER2, ESR1, progesterone receptor and BCL2 in tumors. We found no evidence for an association between EGFR R521K polymorphism and breast cancer risk. However, we found that the homozygous GG (Arg) genotype was more prevalent in patients with lymph node metastasis () and high grade tumors (). The ESR1 2014G allele showed significant association with breast cancer risk (). The GG genotype was associated with HER2 overexpression and this association withstood univariate and multivariate analyses (; , resp.). These data suggest that the R521K might be a prognostic factor, because it correlates with both tumor grade and nodule status. The higher expression of HER2 in ESR1 T594T GG patients suggests the possibility that ESR1 gene polymorphisms accompanied by HER2 expression might influence the pathogenesis of breast cancers.

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