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Breast cancer genetics

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https://www.readbyqxmd.com/read/28944729/using-performance-based-risk-sharing-arrangements-to-address-uncertainty-in-indication-based-pricing
#1
Kai Yeung, Meng Li, Josh J Carlson
BACKGROUND: The rise in pharmaceutical expenditures in recent years has increased health care payer interest in ensuring good value for the money. Indication-based pricing (IBP) sets separate, indication-specific prices paid to the manufacturer according to the expected efficacy of a drug in each of its indications. IBP allows payers to consistently pay for value across indications. While promising, a limitation of IBP as originally conceived is that efficacy estimates are typically based on clinical trial data, which may differ from real-world effectiveness...
October 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28944232/mutational-analysis-of-brca1-and-brca2-genes-in-peruvian-families-with-hereditary-breast-and-ovarian-cancer
#2
Jose Buleje, Maria Guevara-Fujita, Oscar Acosta, Francia D P Huaman, Pierina Danos, Alexis Murillo, Joseph A Pinto, Jhajaira M Araujo, Alfredo Aguilar, Jaime Ponce, Carlos Vigil, Carlos Castaneda, Gabriela Calderon, Henry L Gomez, Ricardo Fujita
BACKGROUND: Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations. METHODS: We performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28943953/six-low-penetrance-snps-for-the-estimation-of-breast-cancer-heritability-a-family-based-study-in-caucasian-italian-patients
#3
Simona De Summa, Francesca Graziano, Brunella Pilato, Rosamaria Pinto, Katia Danza, Rosanna Lacalamita, Simona Serratì, Domenico Sambiasi, Mario Grassi, Stefania Tommasi
Breast cancer is a malignancy with a strong heritable component. Genetic counseling has been principally focused on families carrying high-penetrance breast cancer 1/2, early onset genes. Current modeling suggests that the majority of the unexplained fraction of familial risk is likely to be explained by a polygenic model. The aim of the present study was to estimate the heritability (h(2)) of breast cancer susceptibility through the analysis of 6 single nucleotide polymorphisms (SNPs), nuclear mitotic apparatus protein 1, cyclin D1, cytochrome C oxidase copper chaperone, fibroblast growth factor receptor 2, TOX high mobility group box family member 3 and solute carrier family 4 member 7...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28940489/polymorphisms-in-homologous-recombination-repair-genes-and-the-risk-and-survival-of-breast-cancer
#4
Yu-Huang Liao, Jun-Ting Ren, Wei Zhang, Zheng-Zheng Zhang, Ying Lin, Feng-Xi Su, Wei-Hua Jia, Lu-Ying Tang, Ze-Fang Ren
BACKGROUND: IgA antibody of Epstein-Barr virus (EBV) was found to associate with breast cancer, while the IgA positivity was related to a series of genetic markers in the genes of homologous recombination repair system (HRRs). We then assessed the associations of the polymorphisms in HRR genes with the risk and survival of breast cancer. MATERIALS AND METHODS: A case-control study was conducted with 1551 BC cases and 1605 age-matched healthy controls between October 2008 and March 2012 in the Guangzhou Breast Cancer Study (GZBCS), China, and the case population were followed up until January 31 2016...
September 23, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28939999/our-genes-our-selves-hereditary-breast-cancer-and-biological-citizenship-in-norway
#5
Pål Møller, Eivind Hovig
The concept 'hereditary breast cancer' is commonly used to delineate a group of people genetically at risk for breast cancer-all of whom also having risk for other cancers. People carrying pathogenic variants of the BRCA1 and BRCA2 genes are often referred to as those having predisposition for 'hereditary breast cancer'. The two genes, however, are when altered, associated with different risks for and dying from breast cancer. The main risk for dying for carriers of both genes is from ovarian cancer. These biological facts are of philosophical interest, because they are the facts underlying the public debate on BRCA1/2 genetic testing as a model for the discussion of how to implement genetic knowledge and technologies in personalized medicine...
September 22, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28938853/women-s-perceptions-of-journeying-toward-an-unknown-future-with-breast-cancer-the-lives-at-risk-study
#6
Frances Rapport, Ashrafunnesa Khanom, Marcus A Doel, Hayley A Hutchings, Mia Bierbaum, Anne Hogden, Patti Shih, Jeffrey Braithwaite, Clare Clement
Breast cancer risk classifications are useful for prognosis, yet little is known of their effect on patients. This study clarified women's understandings of risk as they "journeyed" through the health care system. Breast cancer patients and women undergoing genetic investigation were recruited ( N = 25) from a large UK Health Board, 2014-2015, completing a "Book of Experience," and Bio-photographic elicitation interviews. Stakeholder and Participant Feedback Forums were undertaken with key stakeholders, including patients, oncologists, funders, and policy developers, to inform team understanding...
September 1, 2017: Qualitative Health Research
https://www.readbyqxmd.com/read/28938640/association-of-two-obesity-related-gene-polymorphisms-lepg2548a-rs7799039-and-leprq223r-rs1137101-with-the-risk-of-breast-cancer
#7
Hui Luan, Hong Zhang, Ying Li, Ping Wang, Lifei Cao, Honglan Ma, Qing Cui, Gang Tian
Many studies have been performed to investigate the correlation of leptin (LEP) and leptin receptor (LEPR) polymorphisms with breast cancer (BC) risk, however the results are inconclusive. To obtain a more precise estimation, we conducted this meta-analysis. We searched PubMed, EMBASE, and Web of Science databases to identify qualified studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the association. Eight eligible studies (2,124 cases and 5,476 controls) for LEP G2548A (rs7799039) polymorphism, and thirteen studies (5,282 cases and 6,140 controls) for LEPR Q223R (rs1137101) polymorphism were included in our study...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938607/hgfl-mediated-ron-signaling-supports-breast-cancer-stem-cell-phenotypes-via-activation-of-non-canonical-%C3%AE-catenin-signaling
#8
Sasha J Ruiz-Torres, Nancy M Benight, Rebekah A Karns, Elyse E Lower, Jun-Lin Guan, Susan E Waltz
Breast cancer stem cells (BCSCs), which drive tumor progression, recurrence, and metastasis, are considered a major challenge for breast cancer treatments, thus the discovery of novel pathways regulating BCSC maintenance remains essential to develop new strategies to effectively target this population and combat disease mortality. The HGFL-RON signaling is overexpressed in human breast cancers and is associated with increased breast cancer progression, metastasis, and poor prognosis. Here, we report that overexpression of RON/MST1R and HGFL/MST1 in cell lines and primary tumors increases BCSC self-renewal, numbers, and tumorigenic potential after syngeneic transplantation...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938604/inflammation-and-stem-markers-association-to-pim1-pim2-kinase-induced-tumors-in-breast-and-uterus
#9
Manuel-Pedro Jiménez-García, Antonio Lucena-Cacace, María-José Robles-Frías, Irene Ferrer, Maja Narlik-Grassow, Carmen Blanco-Aparicio, Amancio Carnero
The PIM family of Ser/Thr kinase proteins has been implicated in tumorigenesis at different levels. PIM proteins are overexpressed in several tumor types and have been associated with chemoresistance. However, their role in hormone-dependent female tissues has not been explored, especially in the uterus, breast and ovary. We generated conditional transgenic mice with confined expression of human PIM1 or PIM2 genes in these tissues. We characterized the tumoral response to these genetic alterations corroborating their role as oncogenes since they induce hyperproliferation in all tissues and tumors in mammary gland and uterus...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938159/lunatic-fringe-and-p53-cooperatively-suppress-mesenchymal-stem-like-breast-cancer
#10
Wen-Cheng Chung, Shubing Zhang, Lavanya Challagundla, Yunyun Zhou, Keli Xu
Claudin-low breast cancer (CLBC) is a poor prognosis molecular subtype showing stemness and mesenchymal features. We previously discovered that deletion of a Notch signaling modulator, Lunatic Fringe (Lfng), in the mouse mammary gland induced a subset of tumors resembling CLBC. Here we report that deletion of one copy of p53 on this background not only accelerated mammary tumor development but also led to a complete penetrance of the mesenchymal stem-like phenotype. All mammary tumors examined in the Lfng/p53 compound mutant mice displayed a mesenchymal/spindloid pathology...
September 19, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28936272/hereditary-gynaecologic-cancers-in-nepal-a-proposed-model-of-care-to-serve-high-risk-populations-in-developing-countries
#11
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
BACKGROUND: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. There is no specific model for identification and management of such women in the developing world. METHODS: We have integrated data from our published audit of a major gynaecological oncology centre at Royal Hospital for Women in Australia, with data from our survey and a focus group discussion of Nepalese gynaecological health care professionals regarding genetic testing, and findings from the literature...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#12
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#13
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28930233/dietary-isoflavones-and-breast-cancer-risk
#14
REVIEW
Samira Ziaei, Reginald Halaby
Breast cancer is the deadliest neoplasm in women globally, resulting in a significant health burden. In many cases, breast cancer becomes resistant to chemotherapy, radiation, and hormonal therapies. It is believed that genetics is not the major cause of breast cancer. Other contributing risk factors include age at first childbirth, age at menarche, age at menopause, use of oral contraceptives, race and ethnicity, and diet. Diet has been shown to influence breast cancer incidence, recurrence, and prognosis...
April 7, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28930109/abcg2-regulatory-single-nucleotide-polymorphisms-alter-in-vivo-enhancer-activity-and-expression
#15
Rachel J Eclov, Mee J Kim, Aparna Chhibber, Robin P Smith, Nadav Ahituv, Deanna L Kroetz
OBJECTIVES: The expression and activity of the breast cancer resistance protein (ABCG2) contributes toward the pharmacokinetics of endogenous and xenobiotic substrates. The effect of genetic variation on the activity of cis-regulatory elements and nuclear response elements in the ABCG2 locus and their contribution toward ABCG2 expression have not been investigated systematically. In this study, the effect of genetic variation on the in-vitro and in-vivo enhancer activity of six previously identified liver enhancers in the ABCG2 locus was examined...
September 18, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28927133/benefit-of-rebiopsy-for-deciding-treatment-strategy-in-rectal-cancer-a-case-report
#16
Kenta Kawasaki, Yasuo Hamamoto, Takeshi Suzuki, Kenro Hirata, Yasutaka Sukawa, Akiyoshi Kasuga, Yuichiro Hayashi, Hiromasa Takaishi, Kaori Kameyama, Takanori Kanai
Rebiopsy is considered an option for specific types of cancer, such as breast, non-small cell lung, and prostate cancer, in clinical trials and in practice. The benefit of rebiopsy comes from the selection of a new treatment strategy based on the genetic profile of the cells, which may reflect the development of drug resistance or hormonal changes. For colorectal cancer, the presence of different genomic mutations between the primary tumor and its metastases is rare, and rebiopsy is therefore not generally performed...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926338/melk-is-not-necessary-for-the-proliferation-of-basal-like-breast-cancer-cells
#17
Hai-Tsang Huang, Hyuk-Soo Seo, Tinghu Zhang, Yubao Wang, Baishan Jiang, Qing Li, Dennis L Buckley, Behnam Nabet, Justin M Roberts, Joshiawa Paulk, Shiva Dastjerdi, Georg E Winter, Hilary McLauchlan, Jennifer Moran, James E Bradner, Michael J Eck, Sirano Dhe-Paganon, Jean J Zhao, Nathanael S Gray
Thorough preclinical target validation is essential for the success of drug discovery efforts. In this study, we combined chemical and genetic perturbants, including the development of a novel selective maternal embryonic leucine zipper kinase (MELK) inhibitor HTH-01-091, CRISPR/Cas9-mediated MELK knockout, a novel chemical-induced protein degradation strategy, RNA interference and CRISPR interference to validate MELK as a therapeutic target in basal-like breast cancers (BBC). In common culture conditions, we found that small molecule inhibition, genetic deletion, or acute depletion of MELK did not significantly affect cellular growth...
September 19, 2017: ELife
https://www.readbyqxmd.com/read/28925066/beyond-the-androgen-receptor-ii-new-approaches-to-understanding-and-treating-metastatic-prostate-cancer-report-from-the-2017-coffey-holden-prostate-cancer-academy-meeting
#18
REVIEW
Andrea K Miyahira, Heather H Cheng, Wassim Abida, Leigh Ellis, Lauren C Harshman, Daniel E Spratt, Jonathan W Simons, Kenneth J Pienta, Howard R Soule
INTRODUCTION: The 2017 Coffey-Holden Prostate Cancer Academy (CHPCA) Meeting, "Beyond the Androgen Receptor II: New Approaches to Understanding and Treating Metastatic Prostate Cancer," was held in Carlsbad, California from June 14-17, 2017. METHODS: The CHPCA is an annual scientific conference hosted by the Prostate Cancer Foundation (PCF) that is uniquely designed to produce extensive and constructive discussions on the most urgent and impactful topics concerning research into the biology and treatment of metastatic prostate cancer...
September 18, 2017: Prostate
https://www.readbyqxmd.com/read/28924377/current-progresses-of-single-cell-dna-sequencing-in-breast-cancer-research
#19
REVIEW
Jianlin Liu, Ragini Adhav, Xiaoling Xu
Breast cancers display striking genetic and phenotypic diversities. To date, several hypotheses are raised to explain and understand the heterogeneity, including theories for cancer stem cell (CSC) and clonal evolution. According to the CSC theory, the most tumorigenic cells, while maintaining themselves through symmetric division, divide asymmetrically to generate non-CSCs with less tumorigenic and metastatic potential, although they can also dedifferentiate back to CSCs. Clonal evolution theory recapitulates that a tumor initially arises from a single cell, which then undergoes clonal expansion to a population of cancer cells...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28924212/chst9-rs1436904-genetic-variant-contributes-to-prognosis-of-triple-negative-breast-cancer
#20
Jupeng Yuan, Nasha Zhang, Hui Zhu, Jibing Liu, Huaixin Xing, Fei Ma, Ming Yang
Triple-negative breast cancer (TNBC) refers to one aggressive histological subtype of breast cancer with high heterogeneity and poor prognosis after standard therapy. Lack of clearly established molecular mechanism driving TNBC progression makes personalized therapy more difficult. Thus, identification of genetic variants associated with TNBC prognosis will show clinic significance for individualized treatments. Our study is aimed to evaluate the prognostic value of the genome wide association study (GWAS)-identified CHST9 rs1436904 and AQP4 rs527616 genetic variants in our established early-stage TNBC sample database...
September 18, 2017: Scientific Reports
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