• 제목/요약/키워드: Brca1

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Silibilin-Induces Apoptosis in Breast Cancer Cells by Modulating p53, p21, Bak and Bcl-xl Pathways

  • Pirouzpanah, Mohammad Bagher;Sabzichi, Mehdi;Pirouzpanah, Saeed;Chavoshi, Hadi;Samadi, Nasser
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권5호
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    • pp.2087-2092
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    • 2015
  • Nowadays herbal-derived medicines are attracting attention as new sources of drugs with few side effects. Silibinin is a flavonoid compound with chemotheraputic effects on different cancers such as examples in the prostate, lung, colon and breast. In the present study, the cytotoxic effects of silibinin on MCF7 breast cancer cells were investigated. Apoptosis was determined by flow cytometry and the impact of silibinin on the expression of pivotal genes including Bak, P53, P21, BRCA1, BCL-X1 and ATM was analyzed. Treatment for 24h had a significant dose-dependent inhibitory effect on cell growth (p<0.05) with dose- and time- dependent induction of apoptosis (p<0.05). In addition, there were significant increases in BRCA1, ATM, Bak and Bcl-XL gene expression at the mRNA level with different concentrations of silibinin for 24 or 48 h (p<0.05). Taken together, the results suggest that silibinin inhibits the proliferation and induces apoptosis of MCF-7 cells by down-regulating Bak, P53, P21, BRCA1, BCL-Xl and thus may be considered as an effective adjuvant drug to produce a better chemopreventive response for the cancer therapy.

BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer

  • Apsalikov, Bakytbek;Manambaeva, Zukhra;Ospanov, Erlan;Massabayeva, Meruyert;Zhabagin, Kuantkan;Zhagiparova, Zhanar;Maximov, Vladymir;Voropaeva, Elena;Apsalikov, Kazbek;Belikhina, Tatiana;Abdrahmanov, Ramil;Cherepkova, Elena;Tanatarov, Sayat;Massadykov, Adilzhan;Urazalina, Naylia
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권8호
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    • pp.4059-4062
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    • 2016
  • Frequencies of polymorphisms of genes BRCA1 and ТР53 in breast cancer (BC) patients with a BC family history and radiation history were assessed and compared in the Semey region of Kazakhstan. The study included 60 women directly irradiated by the activities of the Semipalatinsk test site with a calculated effective equivalent dose of 500 mSv and their first generation descendants (group BC+Her+Exp); 65 women with family BC and absence of radiological history - the effective equivalent dose due to anthropogenic sources not exceeding 50 mSv (group BC+Her-Exp). The comparison group consisted of 65 women patients with breast cancer without family and radiological history (BC-Her-Exp). The control group comprised 60 women without breast cancer and without family and radiological history (nonBC). We carried out the genotyping of the polymorphisms c.2311T>C, c.4308T>C and 5382insC of the BRCA1 gene and rs1042522 of the ТР53 gene. The frequency of the polymorphism c.2311T>C was significantly higher in patients of the group BC+Her+Exp than in healthy women, and of the polymorphism 5382insC in BC+Her+Exp compared to all other groups. The frequency of the rs1042522 polymorphism of ТР53 was significantly higher in all groups of patients with breast cancer compared with the control group. Differences between groups of women with breast cancer were significant only in BC+Her+Exp vs. BC+Her-Exp. Combinations of polymorphisms of the genes BRCA1 and TP53 predominated in women with a family and radiological history.

장액성 난소암 환자의 유전성 난소암에 대한 지식 및 불안정도 (Knowledge and Anxiety Related to Hereditary Ovarian Cancer in Serous Ovarian Cancer Patients)

  • 이상희;이향규;임명철;김수
    • 여성건강간호학회지
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    • 제25권4호
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    • pp.365-378
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    • 2019
  • Purpose: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies in the ovarian cancer population are limited. This paper aimed to investigate the level of knowledge of hereditary ovarian cancer and anxiety in women diagnosed with serous ovarian cancer in Korea and determine differences in the knowledge and anxiety according to whether genetic testing was undertaken and whether BRCA1 or BRCA2 mutations were present. Methods: Using a descriptive research design, a cross-sectional survey was conducted on 100 women diagnosed with serous ovarian cancer at N hospital in Gyeonggi-do, Korea, from July to November 2018. The collected data were analyzed by descriptive statistics, independent t-tests, one-way analysis of variance, and Pearson's correlation coefficient using the SPSS 21.0 program. Results: The hereditary ovarian cancer-related knowledge score was mid-level (mean score 8.90±3.29 out of a total of 17), as was the state anxiety level was mid-level (mean score 47.96±3.26 out of possible score range of 20-80). Genetic knowledge of hereditary ovarian cancer was associated with age, education, occupation, genetic counseling, and BRCA mutations. There were no statistically significant factors related to anxiety and there were no statistically significant correlations between knowledge level and anxiety. Conclusion: More comprehensive education on gene-related cancer is needed for ovarian cancer patients, especially for items with low knowledge scores. A genetic counseling protocol should be developed to allow more patients to alleviate their anxiety through genetic counseling.

Transcriptional Profiling and Dynamical Regulation Analysis Identify Potential Kernel Target Genes of SCYL1-BP1 in HEK293T Cells

  • Wang, Yang;Chen, Xiaomei;Chen, Xiaojing;Chen, Qilong;Huo, Keke
    • Molecules and Cells
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    • 제37권9호
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    • pp.691-698
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    • 2014
  • SCYL1-BP1 is thought to function in the p53 pathway through Mdm2 and hPirh2, and mutations in SCYL1-BP1 are associated with premature aging syndromes such as Geroderma Osteodysplasticum; however, these mechanisms are unclear. Here, we report significant alterations in miRNA expression levels when SCYL1-BP1 expression was inhibited by RNA interference in HEK293T cells. We functionally characterized the effects of potential kernel miRNA-target genes by miRNA-target network and protein-protein interaction network analysis. Importantly, we showed the diminished SCYL1-BP1 dramatically reduced the expression levels of EEA1, BMPR2 and BRCA2 in HEK293T cells. Thus, we infer that SCYL1-BP1 plays a critical function in HEK293T cell development and directly regulates miRNA-target genes, including, but not limited to, EEA1, BMPR2, and BRCA2, suggesting a new strategy for investigating the molecular mechanism of SCYL1-BP1.

BRCA 유전자 변형 환자의 양측 삼중음성 유방암의 선행화학요법에 대한 상이한 반응 (Bilateral Triple Negative Invasive Ductal Breast Carcinoma in a BRCA1 Mutation Carrier with Discrepant Pathologic Response to Neoadjuvant Chemotherapy)

  • 신기원;박영미;김태현;이안복;박하영;윤혜경;허영진;백진욱;이유진
    • 대한영상의학회지
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    • 제81권2호
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    • pp.428-435
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    • 2020
  • 저자들은 BRCA 유전자 변형 환자의 양측 삼중음성 유방암의 선행화학요법에 대한 상이한 반응에 대한 증례를 보고한다. 우측은 T1cN0M0, 좌측은 T4dN3aM0으로 각각 진단되었다. 환자는 Adriamycin, cyclophosphamide 항암요법 4차, docetaxel 4차를 시행 받았다. 양측 유방암은 첫 번째 항암요법 4차 이후에 부분 관해를 보였다. Docetaxel 항암요법 중 양측 유방암은 상이한 반응을 보였다. 우측 유방암은 지속적인 관해를 보였으나, 좌측 유방암은 진행되는 양상을 보였다. 전절제술 결과, 우측 유방암은 0.3 cm, 좌측은 12 cm로 측정되었다. 동일한 삼중음성 유방암에서도 항암요법에 대하여 좌우가 상이한 반응을 보일 수 있으므로, 면밀한 추적 관찰이 고려되어야 할 것이다.

Hereditary Genes and SNPs Associated with Breast Cancer

  • Mahdi, Kooshyar Mohammad;Nassiri, Mohammad Reza;Nasiri, Khadijeh
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권6호
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    • pp.3403-3409
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    • 2013
  • Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.

유방암의 위험요인 (Risk Factors of Breast Cancer)

  • 정복례;변혜선;김경덕;김경혜
    • 종양간호연구
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    • 제8권2호
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    • pp.120-127
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    • 2008
  • Purpose: The purpose of this study was secondary analysis to explore about risk factors with breast cancer on a basis of primary literature. Methods: This study was searched articles by using CINAHL, MEDLINE, Riss4u, Internet website regarding breast cancer. This study searched for the journal published in Korea and foreign countries from 2000 to 2008, about risk factors of breast cancer. This study was reviewed 42 articles (5 experimental study, 35 survey, 1 qualitative study, 1 report) suitable for the research objectives. Results: Magnitude of risk breast cancer (++) was age, geographic region, family history, mutations in BRCA1, BRCA2 genes and in other penetrance genes, radiation, history of benign breast disease, late age of menopause, early age of menarch, nulliparity and older age at first birth, high mammographic breast density, high insulin-like growth factor 1 level. Magnitude of risk factor (+) was hormone replacement therapy, oral contraceptives use, obesity, tall stature, alcohol consumption, high prolactin level, high saturated fat and well-done meat intake, polymorphisms in low penetrance gene, high socioeconomic status. Conclusion: A breast cancer screening protocol according to magnitude of risk factors is needed for disease prevention. The nurses need to educate and counsel women with risk factors of breast cancer.

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Controlled ovarian hyperstimulation for fertility preservation in women with breast cancer: Practical issues

  • Park, So Yun;Jeong, Kyungah;Cho, Eun Hye;Chung, Hye Won
    • Clinical and Experimental Reproductive Medicine
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    • 제48권1호
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    • pp.1-10
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    • 2021
  • In Korean women, a westernized lifestyle is associated with an increased risk of breast cancer. Fertility preservation has become an increasingly important issue for women with breast cancer, in accordance with substantial improvements in survival rate after cancer treatment. The methods of controlled ovarian hyperstimulation (COH) for fertility preservation in breast cancer patients have been modified to include aromatase inhibitors to reduce the potential harm associated with increased estradiol levels. Random-start COH and dual ovarian stimulation are feasible options to reduce the total duration of fertility preservation treatment and to efficiently collect oocytes or embryos. Using a gonadotropin-releasing hormone agonist as a trigger may improve cycle outcomes in breast cancer patients undergoing COH for fertility preservation. In young breast cancer patients with BRCA mutations, especially BRCA1 mutations, the possibility of diminished ovarian reserve may be considered, although further studies are necessary. Herein, we review the current literature on the practical issues surrounding COH for fertility preservation in women with breast cancer.