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Breast and genetics

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https://www.readbyqxmd.com/read/28820644/national-estimates-of-genetic-testing-in-women-with-a-history-of-breast-or-ovarian-cancer
#1
Christopher P Childers, Kimberly K Childers, Melinda Maggard-Gibbons, James Macinko
Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey...
August 18, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#2
REVIEW
Christine Rousset-Jablonski, Anne Gompel
A breast or an ovarian cancer occurring at a young age and/or in a family where other cases preexist suggests that those patients should be candidates for screening for mutations. Despite decades of medical research, less than 30% of cases with a suggestive personal and/or family history of hereditary breast cancer have an identified causative gene mutation. The vast majority of these cases are due to a mutation in one of the highly penetrant breast cancer genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11) and various guidelines direct the management of these patients...
August 7, 2017: Maturitas
https://www.readbyqxmd.com/read/28815107/introducing-a-comprehensive-informatics-framework-to-promote-breast-cancer-risk-assessment-and-chemoprevention-in-the-primary-care-setting
#3
Joseph Finkelstein, Jeffrey Wood, Katherine D Crew, Rita Kukafka
Breast cancer is the most commonly diagnosed cancer among women in the United States, and current routine screening prevention methods are costly and expose patients to unnecessary risks of overtreatment. The utilization of a risk-based stratification model, genetic testing, and chemoprevention could decrease the incidence of invasive breast cancer but uptake has been low among high-risk women. The goal of this project was to implement a comprehensive informatics framework to promote breast cancer risk assessment and chemoprevention in the primary care setting that was informed by potential user feedback...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28814081/monitoring-genetic-population-biomarkers-with-wastewater-based-epidemiology
#4
Zhugen Yang, Gaolian Xu, Julien Reboud, Barbara Kasprzyk-Hordern, Jonathan Mark Cooper
We report a rapid "sample-to-answer" platform for the quantitative monitoring of genetic biomarkers within communities by analysis of wastewater. The assay is based on the loop-mediated isothermal amplification (LAMP) and shows for the first time the ability to rapidly quantify human-specific mitochondrial DNA (mtDNA) from raw untreated wastewater samples. mtDNA provides a model population biomarker associated with carcinogenesis including breast, renal and gastric cancers. We integrated a filter to remove solid impurities and perform DNA extraction and enrichment in a low cost lateral flow-based test...
August 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28813674/an-integrated-systems-biology-approach-identifies-trim25-as-a-key-determinant-of-breast-cancer-metastasis
#5
Logan A Walsh, Mariano J Alvarez, Erich Y Sabio, Marsha Reyngold, Vladimir Makarov, Suranjit Mukherjee, Ken-Wing Lee, Alexis Desrichard, Şevin Turcan, Martin G Dalin, Vinagolu K Rajasekhar, Shuibing Chen, Linda T Vahdat, Andrea Califano, Timothy A Chan
At the root of most fatal malignancies are aberrantly activated transcriptional networks that drive metastatic dissemination. Although individual metastasis-associated genes have been described, the complex regulatory networks presiding over the initiation and maintenance of metastatic tumors are still poorly understood. There is untapped value in identifying therapeutic targets that broadly govern coordinated transcriptional modules dictating metastatic progression. Here, we reverse engineered and interrogated a breast cancer-specific transcriptional interaction network (interactome) to define transcriptional control structures causally responsible for regulating genetic programs underlying breast cancer metastasis in individual patients...
August 15, 2017: Cell Reports
https://www.readbyqxmd.com/read/28811683/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-risk-for-male-infertility-in-asian-population
#6
Vandana Rai, Pradeep Kumar
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811643/overexpressed-somatic-alleles-are-enriched-in-functional-elements-in-breast-cancer
#7
Paula Restrepo, Mercedeh Movassagh, Nawaf Alomran, Christian Miller, Muzi Li, Chris Trenkov, Yulian Manchev, Sonali Bahl, Stephanie Warnken, Liam Spurr, Tatiyana Apanasovich, Keith Crandall, Nathan Edwards, Anelia Horvath
Asymmetric allele content in the transcriptome can be indicative of functional and selective features of the underlying genetic variants. Yet, imbalanced alleles, especially from diploid genome regions, are poorly explored in cancer. Here we systematically quantify and integrate the variant allele fraction from corresponding RNA and DNA sequence data from patients with breast cancer acquired through The Cancer Genome Atlas (TCGA). We test for correlation between allele prevalence and functionality in known cancer-implicated genes from the Cancer Gene Census (CGC)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811618/assessment-of-the-role-of-ageing-and-non-ageing-factors-in-death-from-non-communicable-diseases-based-on-a-cumulative-frequency-model
#8
Liu Hui
To quantify the effects of ageing and non-ageing factors, a characterization of the effects of ageing, genetic, and exogenous variables on 12 major non-communicable diseases was evaluated using a model assessing cumulative frequency of death and survival by age group from dead and surviving populations based on mortality statistics. Indices (0-1) of the roles of ageing (ARD), genetics (GRD) and exogenous (ERD) variables in deaths due to disease were established, and the sum of ARD, GRD and ERD was 1 (value of each indices was <1)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810140/new-views-into-the-genetic-landscape-of-metastatic-breast-cancer
#9
Xiaoyu Zhao, Scott Powers
Whether metastasis-specific genetic alterations exist remains controversial. The study by Yates et al. in this issue of Cancer Cell provides evidence that metastases emerge late during primary breast cancer progression and that additional driver mutations are often acquired, posing both challenges and opportunities for precision treatment of metastatic breast cancer.
August 14, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28808404/in-vitro-antioxidant-and-antiproliferative-activities-of-various-solvent-fractions-from-clerodendrum-viscosum-leaves
#10
Anil Khushalrao Shendge, Tapasree Basu, Dipankar Chaudhuri, Sourav Panja, Nripendranath Mandal
BACKGROUND: Free radicals such as reactive oxygen and nitrogen species, generated in the body, play an important role in the fulfillment of various physiological functions but their imbalance in the body lead to cellular injury and various clinical disorders such as cancer, neurodegenaration, and inflammation. OBJECTIVE: The objective of this study is to fight this problem, natural antioxidant from plants can be considered as possible protective agents against various diseases such as cancer which might also modify the redox microenvironment to reduce the genetic instability...
July 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28808214/association-of-three-single-nucleotide-polymorphisms-of-esr1with-breast-cancer-susceptibility-a-meta-analysis
#11
Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Li Guo, Yang Zhao
Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants ofESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms ofESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28807866/brca1-2-missense-mutations-and-the-value-of-in-silico-analyses
#12
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, Katja Keller, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Pauline Wimberger, Karin Kast
INTRODUCTION: The clinical implications of genetic variants in BRCA1/2 in healthy and affected individuals are considerable. Variant interpretation, however, is especially challenging for missense variants. The majority of them are classified as variants of unknown clinical significance (VUS). Computational (in-silico) predictive programs are easy to access, but represent only one tool out of a wide range of complemental approaches to classify VUS. With this single-center study, we aimed to evaluate the impact of in-silico analyses in a spectrum of different BRCA1/2 missense variants...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807009/adverse-mental-health-outcomes-in-breast-cancer-survivors-compared-to-women-who-did-not-have-cancer-systematic-review-protocol
#13
Helena Carreira, Rachael Williams, Martin Müller, Rhea Harewood, Krishnan Bhaskaran
BACKGROUND: Recent increasing trends in breast cancer incidence and survival have resulted in unprecedented numbers of cancer survivors in the general population. A cancer diagnosis may have a profound psychological impact, and breast cancer treatments often cause long-term physical sequelae, potentially affecting women's mental health. The aim of this systematic review is to identify and summarise all studies that have compared mental health outcomes in breast cancer survivors, versus women who did not have cancer...
August 14, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28804937/breast-tumor-classification-based-on-a-computerized-breast-imaging-reporting-and-data-system-feature-system
#14
Mengyun Qiao, Yuzhou Hu, Yi Guo, Yuanyuan Wang, Jinhua Yu
OBJECTIVES: This work focused on extracting novel and validated digital high-throughput features to present a detailed and comprehensive description of the American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) with the goal of improving the accuracy of ultrasound breast cancer diagnosis. METHODS: First, the phase congruency approach was used to segment the tumors automatically. Second, high-throughput features were designed and extracted on the basis of each BI-RADS category...
August 14, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28803384/does-obesity-modify-the-relationship-between-physical-activity-and-breast-cancer-risk
#15
REVIEW
S E Neil-Sztramko, T Boyle, E Milosevic, S F Nugent, C C Gotay, K L Campbell
PURPOSE: With only 5-10% of breast cancer cases attributed to genetic inheritance, prevention efforts have focused on modifiable risk factors. Physical activity plays a role in reducing breast cancer risk; however, the interaction between physical activity and other modifiable risk factors, such as obesity, has received little attention. METHODS: A systematic review and meta-analysis was conducted of studies examining the relationship between physical activity and breast cancer and how it may be modified by body mass index (BMI)...
August 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28801942/cancer-risk-in-different-generations-of-middle-eastern-immigrants-to-california-1988-2013
#16
Clara Ziadeh, Argyrios Ziogas, Hoda Anton-Culver
The objective of this study is to compare cancer risk among different generations of Middle Eastern (ME) immigrants and Non-Hispanic Whites (NHW) in California between 1988 and 2013. We used data from the California Cancer Registry to identify invasive primary incident cancer cases in three population groups: a) first generation ME immigrants, b) second or subsequent generations ME immigrants, and c) NHW. Proportional Incidence Ratio (PIR) was used to compare cancer risk of the 15 selected most common cancers in the 3 population groups taking into consideration time since immigration for first generation ME immigrants...
August 12, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28801919/familial-associations-of-female-breast-cancer-with-other-cancers
#17
Guoqiao Zheng, Hongyao Yu, Akseli Hemminki, Asta Försti, Kristina Sundquist, Kari Hemminki
Familial risks of breast cancer (BC) are well established but whether BC clusters with other, i.e. discordant, cancers is less certain but of interest for the identification of common genetic and possible environmental factors contributing to a general cancer susceptibility. We apply a novel approach to search for familial associations of BC with other (discordant) cancers based on the Swedish Family-Cancer Database. Relative risks (RRs) were calculated for BC in families with increasing numbers of patients with discordant cancer X, and conversely, familial RRs for cancer X in families with increasing numbers of BC patients...
August 12, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28800016/fish-analysis-of-top2a-and-her-2-aberrations-in-female-breast-carcinoma-on-archived-material-egyptian-nci-experience
#18
Omnia M Badawy, Iman Loay
BACKGROUND: HER-2 and TOP2A genes are considered of great importance in breast cancer. Their copy number variability has been proposed to be a marker for the degree of chromosomal instability. Owing to the close proximity of TOP2A gene to HER-2 gene chromosome 17, TOP2A status is believed to affect therapeutic plan. The percentage of TOP2A aberrations is greatly variable among different studies. AIM OF WORK: Is to investigate the relation between TOP2A and HER-2 gene amplification using fluorescence in situ hybridization technique...
August 9, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28798322/luciferase-expression-allows-bioluminescence-imaging-but-imposes-limitations-on-the-orthotopic-mouse-4t1-model-of-breast-cancer
#19
V P Baklaushev, A Kilpeläinen, S Petkov, M A Abakumov, N F Grinenko, G M Yusubalieva, A A Latanova, I L Gubskiy, F G Zabozlaev, E S Starodubova, T O Abakumova, M G Isaguliants, V P Chekhonin
Implantation of reporter-labeled tumor cells in an immunocompetent host involves a risk of their immune elimination. We have studied this effect in a mouse model of breast cancer after the orthotopic implantation of mammary gland adenocarcinoma 4T1 cells genetically labelled with luciferase (Luc). Mice were implanted with 4T1 cells and two derivative Luc-expressing clones 4T1luc2 and 4T1luc2D6 exhibiting equal in vitro growth rates. In vivo, the daughter 4T1luc2 clone exhibited nearly the same, and 4T1luc2D6, a lower growth rate than the parental cells...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797847/cytokine-gene-polymorphisms-associated-with-symptom-clusters-in-oncology-patients-undergoing-radiation-therapy
#20
Christine Miaskowski, Yvette P Conley, Judy Mastick, Steven M Paul, Bruce A Cooper, Jon D Levine, Mitchell Knisely, Kord M Kober
CONTEXT: Most of the reviews on the biological basis for symptom clusters suggest that inflammatory processes are involved in the development and maintenance of the symptom clusters. However, no studies have evaluated for associations between genetic polymorphisms and common symptom clusters (e.g., mood disturbance, sickness behavior). OBJECTIVES: Examine the associations between cytokine gene polymorphisms and the severity of three distinct symptom clusters (i...
August 7, 2017: Journal of Pain and Symptom Management
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