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Breast cancer genetics

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https://www.readbyqxmd.com/read/28103111/oxidative-stress-and-carcinogenesis-potential-of-phytochemicals-in-breast-cancer-therapy
#1
Gilead Ebiegberi Forcados, Dorcas Bolanle James, Abdullahi Balarabe Sallau, Aliyu Muhammad, Peace Mabeta
Breast cancer remains a burden in both developed and developing countries, with higher mortality in developing countries. Attempts to eradicate cancer have not been successful despite the progress made in the development of more novel chemotherapeutic drugs. Reactive-oxygen-species-mediated oxidative stress is known to play a role in breast cancer pathogenesis via genetic and epigenetic modifications, resulting in uncontrolled cell proliferation. Phytochemicals could provide leads for the development of alternative therapeutic agents due to their antioxidant activity, as well as their ability to induce apoptosis in cancer cells...
January 19, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28101941/key-messages-for-communicating-information-about-brca1-and-brca2-to-women-with-breast-or-ovarian-cancer-consensus-across-health-professionals-and-service-users
#2
Chris Jacobs, Gabriella Pichert, Jackie Harris, Kathy Tucker, Susan Michie
OBJECTIVES: Genetic testing of cancer predisposing genes will increasingly be needed in oncology clinics in order to target cancer treatment. This Delphi study aimed to identify areas of agreement and disagreement between genetics and oncology health professionals and service users about the key messages required by women with breast/ovarian cancer who undergo BRCA1/BRCA2 genetic testing and the optimal timing of communicating key messages. METHODS: Participants were 16 expert health professionals specialising in oncology/genetics and 16 service users with breast/ovarian cancer and a pathogenic BRCA1/BRCA2 variant...
January 18, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28101578/a-22q11-2-amplification-in-the-region-encoding-microrna-650-correlates-with-the-epithelial-to-mesenchymal-transition-in-breast-cancer-primary-cultures-of-mexican-patients
#3
M Lango-Chavarría, G K Chimal-Ramírez, M E Ruiz-Tachiquín, N A Espinoza-Sánchez, M C Suárez-Arriaga, E M Fuentes-Pananá
Breast cancer ranks first in incidence and mortality in working age women. Cancer initiation and progression relies on accumulation of genetic and epigenetic aberrations that alter cellular processes, among them, epithelial to mesenchymal transition (EMT) denotes particularly aggressive neoplasias given its capacity to invade and metastasize. Several microRNAs (miRNA) have been found able to regulate gene expression at the core of EMT. In this study, the Affymetrix CytoScan HD array was used to analyze three different primary tumor cell isolates from Mexican breast cancer patients...
February 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28097239/metastasis-regulation-by-ppard-expression-in-cancer-cells
#4
Xiangsheng Zuo, Weiguo Xu, Min Xu, Rui Tian, Micheline J Moussalli, Fei Mao, Xiaofeng Zheng, Jing Wang, Jeffrey S Morris, Mihai Gagea, Cathy Eng, Scott Kopetz, Dipen M Maru, Asif Rashid, Russell Broaddus, Daoyan Wei, Mien-Chie Hung, Anil K Sood, Imad Shureiqi
Peroxisome proliferator-activated receptor-δ (PPARD) is upregulated in many major human cancers, but the role that its expression in cancer cells has in metastasis remains poorly understood. Here, we show that specific PPARD downregulation or genetic deletion of PPARD in cancer cells significantly repressed metastasis in various cancer models in vivo. Mechanistically, PPARD promoted angiogenesis via interleukin 8 in vivo and in vitro. Analysis of transcriptome profiling of HCT116 colon cancer cells with or without genetic deletion of PPARD and gene expression patterns in The Cancer Genome Atlas colorectal adenocarcinoma database identified novel pro-metastatic genes (GJA1, VIM, SPARC, STC1, SNCG) as PPARD targets...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28097051/ctla-4-polymorphisms-associate-with-breast-cancer-susceptibility-in-asians-a-meta-analysis
#5
Zhiming Dai, Tian Tian, Meng Wang, Xinghan Liu, Shuai Lin, Pengtao Yang, Kang Liu, Yi Zheng, Peng Xu, Meng Liu, Xuewen Yang, Zhijun Dai
Previous studies have investigated the association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and breast cancer susceptibility, but the results remained inconsistent. Therefore, we evaluated the relationship between four common CTLA-4 polymorphisms and breast cancer risk by a meta-analysis, aiming to derive a comprehensive and precise conclusion. We searched EMBASE, Pubmed, Web of Science, CNKI, and Wanfang databases until July 18th, 2016. Finally, ten eligible studies involving 4,544 breast cancer patients and 4,515 cancer-free controls were included; all these studies were from Asia...
2017: PeerJ
https://www.readbyqxmd.com/read/28096903/anxiety-and-depression-symptoms-among-women-attending-group-based-patient-education-courses-for-hereditary-breast-and-ovarian-cancer
#6
Wenche Listøl, Hildegunn Høberg-Vetti, Geir Egil Eide, Cathrine Bjorvatn
BACKGROUND: Women carrying BRCA-mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisions. In order to enhance the genetic counselling session we organized a group-based patient education (GPE) course for women with BRCA-mutations. The study aims were to characterize women attending a group-based patient education (GPE) course for hereditary breast and ovarian cancer, consider the usefulness of the course, evaluate symptoms of anxiety and depression among the participants, and finally investigate whether their levels of anxiety and depression changed from before to after the course session...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28096648/identification-of-genetic-and-epigenetic-variants-associated-with-breast-cancer-prognosis-by-integrative-bioinformatics-analysis
#7
Arunima Shilpi, Yingtao Bi, Segun Jung, Samir K Patra, Ramana V Davuluri
INTRODUCTION: Breast cancer being a multifaceted disease constitutes a wide spectrum of histological and molecular variability in tumors. However, the task for the identification of these variances is complicated by the interplay between inherited genetic and epigenetic aberrations. Therefore, this study provides an extrapolate outlook to the sinister partnership between DNA methylation and single-nucleotide polymorphisms (SNPs) in relevance to the identification of prognostic markers in breast cancer...
2017: Cancer Informatics
https://www.readbyqxmd.com/read/28095868/pik3ca-mutations-are-common-in-lobular-carcinoma-in-situ-but-are-not-a-biomarker-of-progression
#8
Vandna Shah, Salpie Nowinski, Dina Levi, Irek Shinomiya, Narda Kebaier Ep Chaabouni, Cheryl Gillett, Anita Grigoriadis, Trevor A Graham, Rebecca Roylance, Michael A Simpson, Sarah E Pinder, Elinor J Sawyer
BACKGROUND: Lobular carcinoma in situ (LCIS) is a non-invasive breast lesion that is typically found incidentally on biopsy and is often associated with invasive lobular carcinoma (ILC). LCIS is considered by some to be a risk factor for future breast cancer rather than a true precursor lesion. The aim of this study was to identify genetic changes that could be used as biomarkers of progression of LCIS to invasive disease using cases of pure LCIS and comparing their genetic profiles to LCIS which presented contemporaneously with associated ILC, on the hypothesis that the latter represents LCIS that has already progressed...
January 17, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28093897/presence-of-early-stage-cancer-does-not-impair-the-early-protein-metabolic-response-to-major-surgery
#9
Mariëlle P K J Engelen, V Suzanne Klimberg, Arianna Allasia, Nicolaas Ep Deutz
BACKGROUND: Combined bilateral mastectomy and reconstruction is a common major surgical procedure in women with breast cancer and in those with a family history of breast cancer. As this large surgical procedure induces muscle protein loss, a preserved anabolic response to nutrition is warranted for optimal recovery. It is unclear whether the presence of early stage cancer negatively affects the protein metabolic response to major surgery as this would mandate perioperative nutritional support...
January 16, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#10
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28093659/clinical-and-molecular-relevance-of-mutant-allele-tumor-heterogeneity-in-breast-cancer
#11
Ding Ma, Yi-Zhou Jiang, Xi-Yu Liu, Yi-Rong Liu, Zhi-Ming Shao
PURPOSE: Intra-tumor heterogeneity (ITH) plays a pivotal role in driving breast cancer progression and therapeutic resistance. We used a mutant-allele tumor heterogeneity (MATH) algorithm to measure ITH and explored its correlation with clinical parameters and multi-omics data. METHODS: We assessed 916 female breast cancer patients from The Cancer Genome Atlas. We calculated the MATH values from whole-exome sequencing data and further investigated their correlation with clinical characteristics, somatic mutations, somatic copy number alterations (SCNAs), and gene enrichment...
January 16, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28086829/genomic-pathways-modulated-by-twist-in-breast-cancer
#12
Farhad Vesuna, Yehudit Bergman, Venu Raman
BACKGROUND: The basic helix-loop-helix transcription factor TWIST1 (Twist) is involved in embryonic cell lineage determination and mesodermal differentiation. There is evidence to indicate that Twist expression plays a role in breast tumor formation and metastasis, but the role of Twist in dysregulating pathways that drive the metastatic cascade is unclear. Moreover, many of the genes and pathways dysregulated by Twist in cell lines and mouse models have not been validated against data obtained from larger, independant datasets of breast cancer patients...
January 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28079792/amplification-of-her2-and-top2a-and-deletion-of-top2a-genes-in-a-series-of-taiwanese-breast-cancer
#13
Jim-Ray Chen, Hui-Ping Chien, Kuo-Su Chen, Cheng-Cheng Hwang, Huang-Yang Chen, Kun-Yan Yeh, Tsan-Yu Hsieh, Liang-Che Chang, Yuan-Chun Hsu, Ren-Jie Lu, Chung-Ching Hua
BACKGROUND: The prognostic relevance of topoisomerase II alpha (TOP2A) copy number change remains not well established. This study is aimed to investigate the frequency and pattern of TOP2A aberrations; to correlate TOP2A alterations with human epidermal growth factor receptor 2 (HER2) status and clinicopathological parameters, and further to explore prognostic value of TOP2A and HER2 status in breast cancer in Taiwan. METHODS: We analyzed tissue samples from 311 invasive carcinomas in tissue microarrays for TOP2A and HER2 status by fluorescent in situ hybridization...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28078851/mechanism-of-serum-mir-21-in-the-pathogenesis-of-familial-and-triple-negative-breast-cancer
#14
L Yang, Y Feng, P Qi, S Xu, Y Zhou
The aim of this study was to clarify the mechanism of miR-21 in familial and triple-negative breast cancer (TNBC) by exploring the expression of serum miR-21. The sera were collected from healthy women at high risk of breast cancer. miR-39 was employed as the external reference, and real-time fluorescence quantitative PCR was used to detect the expression of serum miR-21 in 77 subjects. The miR-21 expression of the familial breast cancer group, TNBC group, and breast cancer high risk group were significantly higher than those in the normal control group and other breast cancer groups (P less than 0...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28076423/unique-features-of-germline-variation-in-five-egyptian-familial-breast-cancer-families-revealed-by-exome-sequencing
#15
Yeong C Kim, Amr S Soliman, Jian Cui, Mohamed Ramadan, Ahmed Hablas, Mohamed Abouelhoda, Nehal Hussien, Ola Ahmed, Abdel-Rahman Nabawy Zekri, Ibrahim A Seifeldin, San Ming Wang
Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations...
2017: PloS One
https://www.readbyqxmd.com/read/28074086/role-of-cyp2e1-polymorphisms-in-breast-cancer-a-systematic-review-and-meta-analysis
#16
Yu Lu, Xuan Zhu, Cuiping Zhang, Kongmei Jiang, Chunni Huang, Xue Qin
BACKGROUND: CYP2E1 polymorphisms have been reported to influence individual's breast cancer susceptibility as a phase I enzyme, but the results of these previous studies remain controversial. We performed a comprehensive meta-analysis to assess their association. METHODS: A comprehensive search of literature included in various databases (PubMed, Web of Science and Google scholar), published before August 2016, was performed. Odds ratios (ORs) with 95% confidence intervals (CIs) calculated in fixed or random-effects models were used to estimate the strength of the associations between three polymorphisms of CYP2E1 and breast cancer susceptibility...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#17
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28073726/breast-cancer-in-women-younger-than-35%C3%A2-years%C3%A2-features-and-outcomes-in-the-breast-unit-at-aristide-le-dantec-teaching-hospital-dakar
#18
M Gueye, S M Kane Gueye, M D Ndiaye Gueye, F Niasse Dia, O Gassama, M Diallo, J C Moreau
The aim of this study was to determine the clinical features and outcomes of women younger than 35 years with breast cancer. This study was performed at Gynecologic and Obstetric Clinic of Dakar Teaching Hospital and retrospectively reviewed the records of all women younger than 35 years seen in our department for histologically proven breast cancer. Data were analyzed with SPSS software (Statistical Package for Social Science) Version 23. Between 2007 and 2015, 62 women with breast cancer met the inclusion criteria and were included...
November 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/28072767/cyp3a7-1c-allele-is-associated-with-reduced-levels-of-2-hydroxylation-pathway-oestrogen-metabolites
#19
Deepti Sood, Nichola Johnson, Pooja Jain, Alexandros P Siskos, Mark Bennett, Clare Gilham, Marta Cecilia Busana, Julian Peto, Isabel Dos-Santos-Silva, Hector C Keun, Olivia Fletcher
BACKGROUND: Endogenous sex hormones are well-established risk factors for breast cancer; the contribution of specific oestrogen metabolites (EMs) and/or ratios of specific EMs is less clear. We have previously identified a CYP3A7*1C allele that is associated with lower urinary oestrone (E1) levels in premenopausal women. The purpose of this analysis was to determine whether this allele was associated with specific pathway EMs. METHODS: We measured successfully 12 EMs in mid-follicular phase urine samples from 30 CYP3A7*1C carriers and 30 non-carriers using HPLC-MS/MS...
January 10, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28072594/genetics-consultation-rates-following-a-diagnosis-of-high-grade-serous-ovarian-carcinoma-in-the-canadian-province-of-ontario
#20
Jacob McGee, Karen Panabaker, Sean Leonard, Peter Ainsworth, Laurie Elit, Salimah Z Shariff
OBJECTIVE: In 2001, the province of Ontario expanded cancer genetic testing eligibility to include all women with high-grade serous ovarian carcinoma (HGSC) of the ovary, fallopian tube, and peritoneum. The aim of this study was to determine the proportion of women who attended genetics counseling for consideration of BRCA1/2 gene analysis. We also sought to examine if regional differences in consultation rate exist across administrative health regions in the province of Ontario. METHODS: We identified all women with a pathological diagnosis of HGSC in the province of Ontario between 1997 until 2011...
January 9, 2017: International Journal of Gynecological Cancer
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