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Breast and genetics

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https://www.readbyqxmd.com/read/28086829/genomic-pathways-modulated-by-twist-in-breast-cancer
#1
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/28086790/rna-sequencing-for-global-gene-expression-associated-with-muscle-growth-in-a-single-male-modern-broiler-line-compared-to-a-foundational-barred-plymouth-rock-chicken-line
#2
Byung-Whi Kong, Nicholas Hudson, Dongwon Seo, Seok Lee, Bhuwan Khatri, Kentu Lassiter, Devin Cook, Alissa Piekarski, Sami Dridi, Nicholas Anthony, Walter Bottje
BACKGROUND: Modern broiler chickens exhibit very rapid growth and high feed efficiency compared to unselected chicken breeds. The improved production efficiency in modern broiler chickens was achieved by the intensive genetic selection for meat production. This study was designed to investigate the genetic alterations accumulated in modern broiler breeder lines during selective breeding conducted over several decades. METHODS: To identify genes important in determining muscle growth and feed efficiency in broilers, RNA sequencing (RNAseq) was conducted with breast muscle in modern pedigree male (PeM) broilers (n = 6 per group), and with an unselected foundation broiler line (Barred Plymouth Rock; BPR)...
January 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28079792/amplification-of-her2-and-top2a-and-deletion-of-top2a-genes-in-a-series-of-taiwanese-breast-cancer
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28072477/recurrent-nab2-stat6-gene-fusions-and-estrogen-receptor-alpha-expression-in-pulmonary-adenofibromas
#11
Nicola Fusco, Elena Guerini-Rocco, Claudia Augello, Andrea Terrasi, Giulia Ercoli, Caterina Fumagalli, Davide Vacirca, Paola Braidotti, Antonina Parafioriti, Marta Jaconi, Letterio Runza, Vijayalakshmi Ananthanarayanan, Fabio Pagni, Silvano Bosari, Massimo Barberis, Stefano Ferrero
AIMS: Pulmonary adenofibromas are rare benign fibroepithelial tumours of the lung with unknown histogenesis and an indolent clinical behaviour. Their stroma resembles that of solitary fibrous tumours, while the glands are composed of respiratory epithelium organized in a phyllodes-like architecture. Differentiation of pulmonary adenofibromas from other more aggressive intrathoracic tumours is clinically relevant. However, their biology is unknown. Here, we sought to characterize pulmonary adenofibromas at a clinicopathologic level and to define whether they could be underpinned by a highly recurrent somatic genetic alteration akin to tumours with similar morphology...
January 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28071724/osteoclastic-mir-214-targets-traf3-to-contribute-to-osteolytic-bone-metastasis-of-breast-cancer
#12
Jin Liu, Defang Li, Lei Dang, Chao Liang, Baosheng Guo, Cheng Lu, Xiaojuan He, Hilda Y S Cheung, Bing He, Biao Liu, Fangfei Li, Jun Lu, Luyao Wang, Atik Badshah Shaikh, Feng Jiang, Changwei Lu, Songlin Peng, Zongkang Zhang, Bao-Ting Zhang, Xiaohua Pan, Lianbo Xiao, Aiping Lu, Ge Zhang
The role of osteoclastic miRNAs in regulating osteolytic bone metastasis (OBM) of breast cancer is still underexplored. Here, we examined the expression profiles of osteoclastogenic miRNAs in human bone specimens and identified that miR-214-3p was significantly upregulated in breast cancer patients with OBM. Consistently, we found increased miR-214-3p within osteoclasts, which was associated with the elevated bone resorption, during the development of OBM in human breast cancer xenografted nude mice (BCX). Furthermore, genetic ablation of osteoclastic miR-214-3p in nude mice prevent the development of OBM...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069798/integrative-comparison-of-mrna-expression-patterns-in-breast-cancers-from-caucasian-and-asian-americans-with-implications-for-precision-medicine
#13
Yanxia Shi, Albert Steppi, Ye Cao, Jianan Wang, Max M He, Liren Li, Jinfeng Zhang
Asian Americans (AS) have significantly lower incidence and mortality rates of breast cancer than Caucasian Americans (CA). Although this racial disparity has been documented, the underlying pathogenetic factors explaining it are obscure. We addressed this issue by an integrative genomics approach to compare mRNA expression between AS and CA cases of breast cancer. RNA-seq data from the Cancer Genome Atlas showed that mRNA expression revealed significant differences at gene and pathway levels. Increased susceptibility and severity in CA patients were likely the result of synergistic environmental and genetic risk factors, with arachidonic acid metabolism and PPAR signaling pathways implicated in linking environmental and genetic factors...
November 15, 2016: Cancer Research
https://www.readbyqxmd.com/read/28068660/direct-to-consumer-genetic-testing-user-motivations-decision-making-and-perceived-utility-of-results
#14
J Scott Roberts, Michele C Gornick, Deanna Alexis Carere, Wendy R Uhlmann, Mack T Ruffin, Robert C Green
BACKGROUND/AIMS: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. METHODS: Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results. RESULTS: Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%)...
January 10, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28068209/the-role-of-early-life-nutrition-in-the-establishment-of-gastrointestinal-microbial-composition-and-function
#15
Erin C Davis, Mei Wang, Sharon M Donovan
The development of the human infant intestinal microbiota is a sequential process that begins in utero and continues during the first 2 to 3 years of life. Microbial composition and diversity are shaped by host genetics and multiple environmental factors, of which diet is a principal contributor. An understanding of this process is of clinical importance as the microbiota acquired in early life influence gastrointestinal, immune and neural development, and reduced microbial diversity or dysbiosis during infancy is associated with disorders in infancy and later childhood...
January 9, 2017: Gut Microbes
https://www.readbyqxmd.com/read/28066687/how-little-is-too-much-how-transient-tumor-stromal-crosstalk-can-control-tumor-progression
#16
Christina H Stuelten
Tumorigenesis is driven by genetic and physiological alterations of tumor cells as well as by the host microenvironment. In a co-culture of breast cancer cells and fibroblasts, short term interactions between tumor cells and stromal fibroblasts increase levels of active, fibroblast derived TGF-β in the extracellular medium, which in turn induces an expanded metastatic pattern of MCF10CA1a cells. These findings suggest that the effects of stromal TGF-β on tumor cell phenotype can be modeled as a dynamical system rather than a continuous linear system...
October 2016: Journal of Clinical & Cellular Immunology
https://www.readbyqxmd.com/read/28063537/facteurs-g%C3%A3-n%C3%A3-tiques-%C3%A3-prendre-en-consid%C3%A3-ration-dans-le-cadre-de-l-examen-gyn%C3%A3-cologique-annuel
#17
R Douglas Wilson, Sylvie Langlois
OBJECTIF: Offrir aux médecins un survol des troubles génétiques courants qui devraient être pris en considération dans le cadre de l'examen gynécologique annuel d'une patiente, et ce, afin de déterminer le risque que court celle-ci ou d'en venir à procéder à des examens particuliers ou à orienter la patiente vers un autre service de sous-spécialité, en fonction de ses antécédents personnels ou familiaux. OPTIONS: Ces renseignements d'ordre génétique peuvent être utilisés aux fins de la sensibilisation des patientes et du dépistage ou du diagnostic de possibles maladies et/ou mutations...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28062464/extraintestinal-pathogenic-and-antimicrobial-resistant-escherichia-coli-including-sequence-type-131-st131-from-retail-chicken-breasts-united-states-2013
#18
James R Johnson, Stephen B Porter, Brian Johnston, Paul Thuras, Sarah Clock, Michael Crupain, Urvashi Rangan
: Chicken meat products are hypothesized to be vehicles for transmitting antimicrobial-resistant and extraintestinal pathogenic Escherichia coli (ExPEC) to consumers. To reassess this hypothesis in the current era of heightened concerns about food animal antimicrobial use, we analyzed 175 chicken-source E. coli isolates from a 2013 Consumer Reports national survey. Isolates were PCR-screened for ExPEC-defining virulence genes. The 25 ExPEC isolates (12% of 175) and a 2:1 randomly selected set of 50 non-ExPEC isolates were assessed for phylogenetic/clonal background and virulence genotypes, for comparison with resistance profiles and label claims ("organic", "no antibiotics", and "natural")...
January 6, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28058502/a-novel-loss-of-function-heterozygous-brca2-c-8946_8947delag-mutation-found-in-a-chinese-woman-with-family-history-of-breast-cancer
#19
Jing Ma, Jichun Yang, Wenjing Jian, Xianming Wang, Deyong Xiao, Wenjun Xia, Likuan Xiong, Duan Ma
INTRODUCTION: Breast cancer is the most frequent female malignancy worldwide. Among them, some cases have hereditary susceptibility in two leading genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovarian and other cancer, following autosomal dominant inheritance mode. METHODS AND RESULTS: For purpose of early finding, early diagnosis and early treatment, mutation detecting of BRCA1/2 genes was performed in unselected 300 breast or ovarian patients and unaffected women using next-generation sequencing and then confirmed by Sanger sequencing...
January 5, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28054957/molecular-biomarkers-for-prediction-of-targeted-therapy-response-in-metastatic-breast-cancer-trick-or-treat
#20
REVIEW
Angela Toss, Marta Venturelli, Chiara Peterle, Federico Piacentini, Stefano Cascinu, Laura Cortesi
In recent years, the study of genomic alterations and protein expression involved in the pathways of breast cancer carcinogenesis has provided an increasing number of targets for drugs development in the setting of metastatic breast cancer (i.e., trastuzumab, everolimus, palbociclib, etc.) significantly improving the prognosis of this disease. These drugs target specific molecular abnormalities that confer a survival advantage to cancer cells. On these bases, emerging evidence from clinical trials provided increasing proof that the genetic landscape of any tumor may dictate its sensitivity or resistance profile to specific agents and some studies have already showed that tumors treated with therapies matched with their molecular alterations obtain higher objective response rates and longer survival...
January 4, 2017: International Journal of Molecular Sciences
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