• Title/Summary/Keyword: breast cancer susceptibility

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AXIN2 Polymorphisms, the β-Catenin Destruction Complex Expression Profile and Breast Cancer Susceptibility

  • Aristizabal-Pachon, Andres Felipe;Carvalho, Thais Inacio;Carrara, Helio Humberto;Andrade, Jurandyr;Takahashi, Catarina Satie
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.7277-7284
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    • 2015
  • Background: The Wnt/${\beta}$-catenin signaling pathway is an important regulator of cellular functions such as proliferation, survival and cell adhesion. Wnt/${\beta}$-catenin signaling is associated with tumor initiation and progression; ${\beta}$-catenin mutations explain only 30% of aberrant signaling found in breast cancer, indicating that other components and/or regulation of the Wnt/${\beta}$-catenin pathway may be involved. Objective: We evaluated AXIN2 rs2240308 and rs151279728 polymorphisms, and expression profiles of ${\beta}$-catenin destruction complex genes in breast cancer patients. Materials and Methods: We collected peripheral blood samples from 102 breast cancer and 102 healthy subjects. The identification of the genetic variation was performed using PCR-RFLPs and DNA sequencing. RT-qPCR was used to determine expression profiles. Results: We found significant association of AXIN2 rs151279728 and rs2240308 polymorphisms with breast cancer risk. Significant increase was observed in AXIN2 level expression in breast cancer patients. Further analyses showed APC, ${\beta}$-catenin, CK1${\alpha}$, GSK3${\beta}$ and PP2A gene expression to be associated to clinic-pathological characteristics. Conclusions: The present study demonstrated, for the first time, that AXIN2 genetic defects and disturbance of ${\beta}$-catenin destruction complex expression may be found in breast cancer patients, providing additional support for roles of Wnt/${\beta}$-catenin pathway dysfunction in breast cancer tumorigenesis. However, the functional consequences of the genetic alterations remain to be determined.

Association of Functional Polymorphisms of the XRCC4 Gene with the Risk of Breast Cancer: A Meta-analysis

  • Zhou, Li-Ping;Luan, Hong;Dong, Xi-Hua;Jin, Guo-Jiang;Ma, Dong-Liang;Shang, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3431-3436
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    • 2012
  • Objective: X-ray cross-complementing group 4 (XRCC4) is a major repair gene for DNA double-strand breaks (DSB) in the non-homologous end-joining (NHEJ) pathway. Several potentially functional polymorphisms of the XRCC4 gene have been implicated in breast cancer risk, but individually published studies showed inconclusive results. The aim of this meta-analysis was to investigate the association between XRCC4 polymorphisms and the risk of breast cancer. Methods: The MEDLINE, EMBASE, Web of science and CBM databases were searched for all relevant articles published up to June 20, 2012. Potential associations were assessed with comparisons of the total mutation rate (TMR), complete mutation rate (CMR) and partial mutation rate (PMR) in cases and controls. Statistical analyses were performed using RevMan 5.1.6 and STATA 12.0 software. Results: Five studies were included with a total of 5,165 breast cancer cases and 4,839 healthy controls. Meta-analysis results showed that mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer, while rs2075685 (G>T) and rs10057194 (A>G) might decrease the risk of breast cancer. However, rs1805377 (A>G), rs1056503 (G>T), rs28360317 (ins>del) and rs3734091 (A>G) polymorphisms of XRCC4 gene did not appear to have an influence on breast cancer susceptibility. Conclusion: Results from the current meta-analysis suggest that the rs2075685 (G>T) and rs6869366 (G>T) polymorphisms of the XRCC4 gene might increase the risk of breast cancer, whereas rs2075685 (G>T) and rs10057194 (A>G) might be protective factors.

Menopausal Status Modifies Breast Cancer Risk Associated with ESR1 PvuII and XbaI Polymorphisms in Asian Women: a HuGE Review and Meta-analysis

  • Li, Li-Wen;Xu, Lei
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5105-5111
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    • 2012
  • Background: Published data on the association between single nucleotide polymorphisms (SNPs) in the ESR1 gene and breast cancer susceptibility are inconclusive or controversial. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of this relationship. Methods: A literature search of Pubmed, Embase, Web of science and CBM databases was conducted from inception through September 1th, 2012. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: A total of five studies including 1,678 breast cancer cases and 1,678 general population controls in Asian populations were involved in this meta-analysis. When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). Nevertheless, no significant association between ESR1 XbaI (A>G) (rs9340799) polymorphism and the risk of breast cancer was observed in pre-menopausal and post-menopausal individuals. Conclusion: Based on a homogeneous Asian population, results from the current meta-analysis indicates that the ESR1 PvuII (C>T) polymorphism places pre-menopausal breast cancer women at risk for breast cancer, while ESR1 XbaI (A>G) polymorphism is not likely to predict the risk of breast cancer.

Meta Analysis of Studies about Breast Self Examination between 2000-2009 in Turkey

  • Ergin, Ayla Berkiten;Sahin, Nevin Hotun;Sahin, Fezan Mutlu;Yaban, Zuleyha Simsek;Acar, Zeynep;Bektas, Hatice
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3389-3397
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    • 2012
  • Aim: The aim of this study was to analyze studies in Turkey about self-breast examination and produce conclusive, reliable and detailed basis for future studies. Methods: Studies performed between 2000 and 2009 (until the end of September) were retrieved from databases using breast cancer, breast examination, breast cancer screening and risk factors as key words. Fifty-nine studies were identified and 18 of them (15 journal articles and three theses) were used for the meta-analysis. Results: Married women and women with a family history of breast cancer were found to perform self-breast examination more frequently than single women and women without a family history of breast cancer, respectively (OR=1.02 %CI 0.82-1.63; OR=1.16 %CI 0.82-1.63). According to the health belief model scales, women performing self-breast examination were determined to have 1.7 times higher susceptibility (OR=1.70), 1.34 times higher seriousness perception (OR=1.34), 3.32 times higher health motivation (OR=3.32), 5.21 times more self-efficacy/confidence (OR=5.21) and 2.56 times higher self-breast examination benefit perception (OR=2.56). Conclusion: Nursing care models caused an increase in self-breast examination by women, and thus, it may be useful to organize and evaluate such health-related programs and consider women health perceptions.

Turkish Female Academician Self-Esteem and Health Beliefs for Breast Cancer Screening

  • Avci, Ilknur Aydin;Kumcagiz, Hatice;Altinel, Busra;Caloglu, Ayse
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.155-160
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    • 2014
  • Purpose: This study aimed to analyse female academician health beliefs for breast cancer screening and levels of self-esteem. Materials and Methods: This cross-sectional study was conducted between October 2010 and March 2011, covering female academicians working in all faculties and vocational schools at Ondokuz Mayis University, except for the ones in the field of health (n=141). Data was collected using a questionnaire developed by researchers in the light of the related literature, the Champion's Health Belief Model Scale for Breast Cancer, and the Coopersmith Self-Esteem Inventory. Descriptive statistics, the t-test, Mann-Whitney U and correlation analysis were used to analyze the data with the SPSS 13.0 statistical package. Results: 53.8% of the participants were single, 58.6% did not have children, 80.7% had regular menstrual cycles, 28.3% was taking birth control pills, 17.9% were undergoing hormone therapy, 11% suffered breast problems, 8.3% had relatives with breast cancer, 78,6% knew about breast self-examination (BSE), 68.3% was performing BSE, 16.2% were performing BSE monthly, 17.9% had had mammograms, and 30.3% had undergone breast examinations conductedby physicians. The women who had breast physical examinations done by physicians had higher susceptibility, self-efficacy and health motivation, and fewer barriers to mammography than those who did not have breast physical examinations. Conclusions: There was a relationship between the female academician self-esteem and their perceived seriousness of breast cancer, perceived barriers to BSE and health motivation. Our Turksih female academicians had medium levels of self-esteem.

Lack of Association between CYP1A1 M2 and M4 Polymorphisms and Breast Carcinoma in Jordanian Women: a Case-Control Study

  • Amrani, Iman;Bulatova, Nailya;Awidi, Abdalla;Yousef, Al-Motassem;Melhem, Jamal Masad;Al-Masri, Mahmoud;Tahoun, Laila Abu
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.1
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    • pp.387-393
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    • 2016
  • Background: CYP1A1 is a candidate gene for low-penetrance breast cancer susceptibility, as it plays an important role in the metabolism of carcinogens and estrogens. Purpose: The objective of this study was to assess the association between M2 (A2455G, Ile462Val) and M4 (C2453A, Thr461Asn) polymorphisms in CYP1A1 and breast cancer risk among Jordanian women and in subgroups stratified by menopausal status and smoking history. Materials and Methods: Blood samples were collected from 112 breast cancer female patients and 115 age-matched controls who underwent breast cancer screening with imaging and showed negative results (BI-RADS I or BI-RADS II). Genotyping was performed using the PCR-RFLP technique. Results: No statistically significant overall association was found between breast cancer risk and CYP1A1 M2 genotypes (p= 0.55; OR = 0.77; 95% CI= 0.32 - 1.83) nor with the M4 polymorphism (p= 0.95; OR= 0.95; 95% CI= 0.51 - 1.88). Analysis of subgroups defined by menopausal status or smoking history also revealed no association with these polymorphisms. Furthermore, the four identified haplotypes (AC; AA; GC and GA) were equally distributed among cases and controls, and haplotype analysis showed a strong linkage disequilibrium of both studied loci in either cases or controls (D'=1). Conclusions: Based on the study results, CYP1A1 M2 and M4 polymorphisms do not seem to play a major role in breast cancer risk among Jordanian females.

Genetic Polymorphism of Glutathione S-transferase P1 and Breast Cancer Risk

  • Kim, Sook-Un;Lee, Kyoung-Mu;Park, Sue-Kyung;Yoo, Keun-Young;Noh, Dong-Young;Choe, Kook-Jin;Ahn, Sei-Hyun;Hirvonen, Ari;Kang, Dae-Hee
    • BMB Reports
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    • v.37 no.5
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    • pp.582-585
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    • 2004
  • To evaluate the potential association between the GSTP1 genotype and the development of breast cancer, a hospital based case-control study was conducted on Korean women. The study population consisted of 171 histologically confirmed incident breast cancer cases and 171 age-matched controls with no present or previous history of cancer. PCR-RFLP was used for the GSTP1 genotyping and statistical evaluations were performed using an unconditional logistic regression model. Postmenopausal women with the GSTP1 Val allele were found to have a reduced risk of breast cancer (OR = 0.3, 95% CI = 0.10 - 0.74). A significant interaction was observed between the GSTP1 genotype and alcohol consumption (p for interaction = 0.01); compared with never-drinking women with Ile/Ile genotype, ever-drinking women with the GSTP1 Val allele had almost a three-fold risk of breast cancer (OR = 2.9, 95% CI = 1.05-7.85), whereas never-drinking women with Val allele had half this risk (OR = 0.5, 95% CI = 0.27-0.93). Our findings suggest that the GSTP1 polymorphism influences individual susceptibility to breast cancer in the Korean women and this effect may be modified by alcohol consumption.

The Behavioral and Educational Factors Affecting the Breast Self-examination and Breast Cancer Screening (일부 보건소 내소 여성의 유방자가검진과 유방암 검진의 관련요인)

  • 최종숙;박재용;한창현
    • Korean Journal of Health Education and Promotion
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    • v.18 no.1
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    • pp.61-78
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    • 2001
  • The purpose of this research was to find out plans to promote the fulfillment of the breast self-examination and breast cancer screening, which is preventive health behavior about women's having breast cancer exam in some part of our country with searching for the primary causes which have an effect on their fulfillment. The subjects of the study were 540 literate volunteers who were of age from 20 to 69 and who visited 8 health centers in Taegu. The survey research was made through questionares in the 8 health centers in Taegu from the 15th to the 30th of September, 1998. Based on Becker's health belief model asking medical staff's opinions with bibliographies, the major findings from the survey was as follow. The fulfillment rate of the breast self-examination and the breast cancer screening was 37.8%(204 subjects), 27.6% (149 subjects) each. Getting breast self-exam varied significantly depending on subject's age, income of family, religion, occupation and the number of children. As far as the breast cancer screening was concerned, there was remarkably significant difference in accordance with their age, marital status, religion, occupation, income of family, the number of children, ways of nursing and parturition age of the first baby. The subjects in their forties accounted for the highest rate. Based on the fulfillment of the breast self-examination and the breast cancer screening, the average points of all the variables presented from the health belief as well as the points of the susceptibility, seriousness, benefits, knowledge and level of health concern of interest in health were significantly higher than the points of non-fulfillment of them in the statistical analysis whereas the barriers was lower than them. In consequence of the multiple-logistic regression analysis putting the breast self-examination and the breast cancer screening in dependent variables, occupation, knowledge, seriousness, benefits, barriers and cues to action had significant effects on breast self-examination against breast cancer. Looking more attainments, thinking diseases more seriously, feeling more usefulness and there being any patient around with breast cancer led to the higher rate of the breast self-examination against it. On the other hand, feeling more impedition as well as housewives caused the lower rate of it. The breast cancer screening was significantly affected by age, sensitivity, usefulness, impedition and behavior momentum as well. The cases who are older, feeling more sensitivity against breast cancer, more usefulness of the examination and where any patient around, the fulfillment rate was higher. Contrarily the more impedition they felt, the lower the fulfillment rate was. Accordingly, the study of the causes, which have significant effects on the fulfillment of the self-examination and the breast cancer screening in order to find it in an early stage, and the development of health education programs as well as proper education for public health through carrying on campaigns and stepping up public relations must be indispensable.

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Determination of the Breast Cancer Risk Levels and Health Beliefs of Women With and Without Previous Mammography in the Eastern Part of Turkey

  • Baysal, Hasret Yalcinoz;Polat, Hatice
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5213-5217
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    • 2012
  • Objective: This research was conducted to determine the breast cancer risk levels of women with and without previous mammography and their beliefs on breast cancer and mammography. Methods: The sample for this descriptive research consisted of women aged 50 years or older who were registered at the Family Health Center in the city center of Erzurum. The research was conducted with a total of 420 women with at least one mammography (210) and without mammography (210) who presented to the center on Wednesdays and Thursdays for any reason between 1 January 2010 and 1 January 2011. Research data were collected using the personal information "Breast Cancer Risk Assessment Form" accepted and recommended by the Turkish Ministry of Health, and the Champion's Health Belief Model Scale for Breast Cancer and Screening (CHBMS). Data were evaluated using percentages and means with the t-test. Results: According to the research data, 89.8% of the women were found to be in the low risk group, 87.6% with and 91.9% without mammography. When the health beliefs of women with and without mammography were compared, it was found that susceptibility, seriouness, motivation, mammography benefit scores were higher among those with mammography (p<0.01). The mammography barrier score average was higher in the group without mammography (p<0.01). Conclusion: Knowing women's health beliefs, which have positive and negative effects on participating in mammography screening, may increase the rate of mammography uptake among women. Moreover, women with high breast cancer risk may be determined by increasing society's level of knowledge on breast cancer and risk factors.

Brca2 Deficiency Leads to T Cell Loss and Immune Dysfunction

  • Jeong, Jun-Hyeon;Jo, Areum;Park, Pilgu;Lee, Hyunsook;Lee, Hae-Ock
    • Molecules and Cells
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    • v.38 no.3
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    • pp.251-258
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    • 2015
  • Germline mutations in the breast cancer type 2 susceptibility gene (BRCA2) are linked to familial breast cancer and the progressive bone marrow failure syndrome Fanconi anaemia. Established Brca2 mouse knockout models show embryonic lethality, but those with a truncating mutation at the C-terminus survive to birth and develop thymic lymphoma at an early age. To overcome early lethality and investigate the function of BRCA2, we used T cell-specific conditional Brca2 knockout mice, which were previously shown to develop thymic lymphoma at a low penetrance. In the current study we showed that the number of peripheral T cells, particularly na$\ddot{i}$ve pools, drastically declined with age. This decline was primarily ascribed to improper peripheral maintenance. Furthermore, heterozygous mice with one wild-type Brca2 allele manifested reduced T cell numbers, suggesting that Brca2 haploinsufficiency might also result in T cell loss. Our study reveals molecular events occurring in Brca2-deficient T cells and suggests that both heterozygous and homozygous Brca2 mutation may lead to dysfunction in T cell populations.