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Breast cancer genetics

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https://www.readbyqxmd.com/read/29330437/a-computational-assay-of-estrogen-receptor-%C3%AE-antagonists-reveals-the-key-common-structural-traits-of-drugs-effectively-fighting-refractory-breast-cancers
#1
Matic Pavlin, Angelo Spinello, Marzia Pennati, Nadia Zaffaroni, Silvia Gobbi, Alessandra Bisi, Giorgio Colombo, Alessandra Magistrato
Somatic mutations of the Estrogen Receptor α (ERα) occur with an up to 40% incidence in ER sensitive breast cancer (BC) patients undergoing prolonged endocrine treatments. These polymorphisms are implicated in acquired resistance, disease relapse, and increased mortality rates, hence representing a current major clinical challenge. Here, multi-microseconds (12.5 µs) molecular dynamics simulations revealed that recurrent ERα polymorphisms (i. e. L536Q, Y537S, Y537N, D538G) (mERα) are constitutively active in their apo form and that they prompt the selection of an agonist (active)-like conformation even upon antagonists binding...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330379/identification-of-shared-genetic-variants-between-schizophrenia-and-lung-cancer
#2
Verena Zuber, Erik G Jönsson, Oleksandr Frei, Aree Witoelar, Wesley K Thompson, Andrew J Schork, Francesco Bettella, Yunpeng Wang, Srdjan Djurovic, Olav B Smeland, Ingrid Dieset, Ayman H Fanous, Rahul S Desikan, Sébastien Küry, Stéphane Bézieau, Anders M Dale, Ian G Mills, Ole A Andreassen
Epidemiology studies suggest associations between schizophrenia and cancer. However, the underlying genetic mechanisms are not well understood, and difficult to identify from epidemiological data. We investigated if there is a shared genetic architecture between schizophrenia and cancer, with the aim to identify specific overlapping genetic loci. First, we performed genome-wide enrichment analysis and second, we analyzed specific loci jointly associated with schizophrenia and cancer by the conjunction false discovery rate...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29328875/environmental-determinants-of-breast-cancer
#3
Robert A Hiatt, Julia Green Brody
In the United States, breast cancer is the most common invasive malignancy and the second most common cause of death from cancer in women. Reproductive factors, estrogen, and progesterone have major causal roles, but concerns about other potential causes in the external environment continue to drive research inquiries and stimulate calls for action at the policy level. The environment is defined as anything that is not genetic and includes social, built, and chemical toxicant aspects. This review covers the scope of known and suspected environmental factors that have been associated with breast cancer and illustrates how epidemiology, toxicology, and mechanistic studies work together to create the full picture of environmental effects on this malignancy...
January 12, 2018: Annual Review of Public Health
https://www.readbyqxmd.com/read/29327596/fertility-preservation-in-brca-mutated-women-when-and-how
#4
Michaël Grynberg, Jade Raad, Marjorie Comtet, Claire Vinolas, Isabelle Cédrin-Durnerin, Charlotte Sonigo
BRCA 1 and 2 genes play a critical role in the safeguarding of DNA integrity. It is now well established that BRCA1 and BRCA2-mutated women are at increased risk of breast and ovarian cancers. However, several lines of evidence indicate that this genetic status may also be associated with ovarian dysfunction, in particular a reduced ovarian reserve. Considering the gonadal toxicity of cancer treatments and the recommendation of prophylactic bilateral salpingo-oophorectomy around 40 years, young BRCA mutation carriers are confronted with difficult family planning decisions...
January 12, 2018: Future Oncology
https://www.readbyqxmd.com/read/29326437/insertional-mutagenesis-in-a-her2-positive-breast-cancer-model-reveals-eras-as-a-driver-of-cancer-and-therapy-resistance
#5
Gerjon J Ikink, Mandy Boer, Elvira R M Bakker, Annabel Vendel-Zwaagstra, Chris Klijn, Jelle Ten Hoeve, Jos Jonkers, Lodewyk F Wessels, John Hilkens
Personalized medicine for cancer patients requires a deep understanding of the underlying genetics that drive cancer and the subsequent identification of predictive biomarkers. To discover new genes and pathways contributing to oncogenesis and therapy resistance in HER2+ breast cancer, we performed Mouse Mammary Tumor Virus (MMTV)-induced insertional mutagenesis screens in ErbB2/cNeu-transgenic mouse models. The screens revealed 34 common integration sites (CIS) in mammary tumors of MMTV-infected mice, highlighting loci with multiple independent MMTV integrations in which potential oncogenes are activated, most of which had never been reported as MMTV CIS...
January 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29324832/differential-microrna-expression-in-breast-cancer-with-different-onset-age
#6
Hsiu-Pei Tsai, Shiang-Fu Huang, Chien-Fan Li, Huei-Tzu Chien, Shin-Cheh Chen
PURPOSE: The lower breast cancer incidence in Asian populations compared with Western populations has been speculated to be caused by environmental and genetic variation. Early-onset breast cancer occupies a considerable proportion of breast cancers in Asian populations, but the reason for this is unclear. We aimed to examine miRNA expression profiles in different age-onset groups and pathological subtypes in Asian breast cancer. METHODS: At the first stage, 10 samples (tumor: n = 6, normal tissue: n = 4) were analyzed with an Agilent microRNA 470 probe microarray...
2018: PloS One
https://www.readbyqxmd.com/read/29323669/cost-effectiveness-and-comparative-effectiveness-of-cancer-risk-management-strategies-in-brca1-2-mutation-carriers-a-systematic-review
#7
Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James
PurposeTo review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers.MethodsComparative effectiveness and cost-effectiveness analyses were identified by searching scientific and health economic databases. Eligible studies modeled the impact of a cancer risk management intervention in BRCA carriers on life expectancy (LE), cancer incidence, or quality-adjusted life years (QALYs), with or without costs.ResultsTwenty-six economic evaluations and eight comparative effectiveness analyses were included...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29323058/assessment-of-topoisomerase-ii-alpha-gene-status-by-dual-color-chromogenic-in-situ-hybridization-in-a-set-of-iraqi-patients-with-invasive-breast-carcinoma
#8
Rasha Abd Alraouf Neama, Manal A Habib, Sahira A Ali, Ali H Al-Khafaji, Mohammed F Alqanbar
BACKGROUND: The human epidermal growth factor receptor 2(HER2) proto-oncogene is overexpressed or amplified in approximately 15%-25% of invasive breast cancers. Approximately 35% of HER2-amplified breast cancers have coamplification of the topoisomerase II-alpha (TOP2A) gene encoding an enzyme that is a major target of anthracyclines. Hence, the determination of genetic alteration (amplification or deletion) of both genes is considered as an important predictive factor that determines the response of breast cancer patients to treatment...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29322918/a-linear-programming-computational-framework-integrates-phosphor-proteomics-and-prior-knowledge-to-predict-drug-efficacy
#9
Zhiwei Ji, Bing Wang, Ke Yan, Ligang Dong, Guanmin Meng, Lei Shi
BACKGROUND: In recent years, the integration of 'omics' technologies, high performance computation, and mathematical modeling of biological processes marks that the systems biology has started to fundamentally impact the way of approaching drug discovery. The LINCS public data warehouse provides detailed information about cell responses with various genetic and environmental stressors. It can be greatly helpful in developing new drugs and therapeutics, as well as improving the situations of lacking effective drugs, drug resistance and relapse in cancer therapies, etc...
December 21, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29322114/characteristics-of-special-type-breast-tumors-in-our-center
#10
Tonguç Utku Yılmaz, Levent Trabzonlu, Sertaç Ata Güler, Mehmet Ali Baran, Gökhan Pösteki, Cengiz Erçin, Zafer Utkan
Objective: Breast cancer is a heterogeneous disease with different histological types. Ductal breast cancer constitutes the vast majority of the breast cancers. However limited data are present in the rest of breast cancers called special or rare type breast cancers. Here in this study, we tried to describe the clinical features of special type breast cancers in our center. Materials and Methods: Retrospective descriptive study was performed in Kocaeli University School of Medicine, Department of General Surgery between January 2000 and January 2016...
January 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29321644/cox-2-induces-oncogenic-micro-rna-mir655-in-human-breast-cancer
#11
Mousumi Majumder, Leanna Dunn, Ling Liu, Asma Hasan, Krista Vincent, Muriel Brackstone, David Hess, Peeyush K Lala
We show that Cyclooxygenase-2 over-expression induces an oncogenic microRNA miR655 in human breast cancer cells by activation of EP4. MiR655 expression positively correlated with COX-2 in genetically disparate breast cancer cell lines and increased in all cell lines when grown as spheroids, implicating its link with stem-like cells (SLCs). Ectopic miR655 over-expression in MCF7 and SKBR3 cells resulted in increased proliferation, migration, invasion, spheroid formation and Epithelial to Masenchymal transition (EMT)...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321615/functional-isolation-of-tumor-initiating-cells-using-microfluidic-based-migration-identifies-phosphatidylserine-decarboxylase-as-a-key-regulator
#12
Yu-Chih Chen, Brock Humphries, Riley Brien, Anne E Gibbons, Yu-Ting Chen, Tonela Qyli, Henry R Haley, Matthew E Pirone, Benjamin Chiang, Annie Xiao, Yu-Heng Cheng, Yi Luan, Zhixiong Zhang, Jason Cong, Kathryn E Luker, Gary D Luker, Euisik Yoon
Isolation of tumor-initiating cells currently relies on markers that do not reflect essential biologic functions of these cells. We proposed to overcome this limitation by isolating tumor-initiating cells based on enhanced migration, a function tightly linked to tumor-initiating potential through epithelial-to-mesenchymal transition (EMT). We developed a high-throughput microfluidic migration platform with automated cell tracking software and facile recovery of cells for downstream functional and genetic analyses...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29316072/the-impact-of-patient-age-on-breast-cancer-risk-prediction-models
#13
Suzanne B Coopey, Ahmet Acar, Molly Griffin, Jessica Cintolo-Gonzalez, Alan Semine, Kevin S Hughes
BACKGROUND: The impact of age on breast cancer risk model calculations at the population level has not been well documented. METHODS: Retrospective analysis of formal breast cancer risk assessment in 36 542 females ages 40-84 at a single institution from 02/2007 to 12/2009. Five-year and lifetime breast cancer risks were calculated using Gail, Tyrer-Cuzick version 6 (TC6), Tyrer-Cuzick version 7 (TC7), BRCAPRO, and Claus models. Risk of BRCA mutation was calculated using BRCAPRO, TC6, TC7, and Myriad...
January 8, 2018: Breast Journal
https://www.readbyqxmd.com/read/29315819/genetic-and-small-molecule-inhibition-of-arylamine-n-acetyltransferase-1-reduces-anchorage-independent-growth-in-human-breast-cancer-cell-line-mda-mb-231
#14
Marcus W Stepp, Mark A Doll, Samantha M Carlisle, J Christopher States, David W Hein
Arylamine N-acetyltransferase 1 (NAT1) expression is reported to affect proliferation, invasiveness, and growth of cancer cells. MDA-MB-231 breast cancer cells were engineered such that NAT1 expression was elevated or suppressed, or treated with a small molecule inhibitor of NAT1. The MDA-MB-231 human breast cancer cell lines were engineered with a scrambled shRNA, a NAT1 specific shRNA or a NAT1 overexpression cassette stably integrated into a single flippase recognition target (FRT) site facilitating incorporation of these different genetic elements into the same genomic location...
January 9, 2018: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29315233/dissecting-time-from-tumor-related-gene-expression-variability-in-bilateral-breast-cancer
#15
Maurizio Callari, Matteo Dugo, Patrizia Miodini, Silvia Veneroni, Giampaolo Bianchini, Maria Grazia Daidone, Vera Cappelletti
Metachronous (MBC) and synchronous bilateral breast tumors (SBC) are mostly distinct primaries, whereas paired primaries and their local recurrences (LRC) share a common origin. Intra-pair gene expression variability in MBC, SBC, and LRC derives from time/tumor microenvironment-related and tumor genetic background-related factors and pairs represents an ideal model for trying to dissect tumor-related from microenvironment-related variability. Pairs of tumors derived from women with SBC (n = 18), MBC (n = 11), and LRC (n = 10) undergoing local-regional treatment were profiled for gene expression; similarity between pairs was measured using an intraclass correlation coefficient (ICC) computed for each gene and compared using analysis of variance (ANOVA)...
January 9, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29315215/association-between-vitamin-d-genetic-risk-score-and-cancer-risk-in-a-large-cohort-of-u-s-women
#16
Paulette D Chandler, Deirdre K Tobias, Lu Wang, Stephanie A Smith-Warner, Daniel I Chasman, Lynda Rose, Edward L Giovannucci, Julie E Buring, Paul M Ridker, Nancy R Cook, JoAnn E Manson, Howard D Sesso
Some observational studies suggest an inverse association between circulating 25-hydroxyvitamin D (25OHD) and cancer incidence and mortality. We conducted a Mendelian randomization analysis of the relationship between a vitamin D genetic risk score (GRS, range 0-10), comprised of five single nucleotide polymorphisms (SNPs) of vitamin D status in the DHCR7, CYP2R1 and GC genes and cancer risk among women. Analysis was performed in the Women's Genome Health Study (WGHS), including 23,294 women of European ancestry who were cancer-free at baseline and followed for 20 years for incident cancer...
January 9, 2018: Nutrients
https://www.readbyqxmd.com/read/29314485/factors-influencing-the-decision-to-share-cancer-genetic-results-among-family-members-an-in-depth-interview-study-of-women-in-an-asian-setting
#17
Shao-Tzu Li, Shirley Sun, Désirée Lie, Marie Met-Domestici, Eliza Courtney, Sapna Menon, Geok Hoon Lim, Joanne Ngeow
OBJECTIVE: Reluctance to share hereditary cancer syndrome genetic test results with family is reported among Asian patients. This study aims to explore patient factors influencing result-sharing with family, to improve overall testing uptake. METHODS: Participants were women with a personal/family history of breast and/or ovarian cancer who received a positive, negative, or variant of uncertain significance (VUS) test result. In-depth interviews were conducted to theme saturation to explore facilitators and barriers for sharing results with family...
January 3, 2018: Psycho-oncology
https://www.readbyqxmd.com/read/29310834/genetic-analysis-and-clinical-description-of-greek-patients-with-peutz-jeghers-syndrome-creation-of-a-national-registry
#18
Florentia Fostira, Vasiliki Mollaki, George Lypas, George Alexandrakis, Efstratios Christianakis, Maria Tzouvala, Eirini Zacharopoulou, Despoina Kalfakakou, Irene Konstantopoulou, Drakoulis Yannoukakos
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece. STK11 loss-of-function (LoF) mutations were detected in 87.5% of index patients...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310340/the-first-case-report-of-a-large-deletion-of-the-brca1-gene-in-croatia-a-case-report
#19
Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat
RATIONALE: Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS: In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS: Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29302853/progesterone-receptor-pgr-gene-variants-associated-with-breast-cancer-and-associated-features-a-case-control-study
#20
Rabeb M Ghali, Maryam A Al-Mutawa, Bashayer H Ebrahim, Hanen H Jrah, Sonia Zaied, Hanen Bhiri, Fahmi Hmila, Touhami Mahjoub, Wassim Y Almawi
Insofar as altered estrogen receptor-progesterone receptor (PR) expression contribute to breast cancer pathogenesis, previous studies examined the association of genetic variation in PR gene (PGR) with breast cancer, but with mixed outcome. We evaluated the association between PGR variants, and breast cancer and associated features. A retrospective case-control study involving 183 female breast cancer patients, and 222 control women. PGR genotyping was done by real-time PCR. Minor allele frequencies of rs1042838, rs590688, and rs10895068 PGR gene polymorphisms were significantly higher in breast cancer patients compared to controls...
January 4, 2018: Pathology Oncology Research: POR
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