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https://www.readbyqxmd.com/read/28822785/next-generation-sequencing-based-detection-of-germline-copy-number-variations-in-brca1-brca2-validation-of-a-one-step-diagnostic-work-flow
#1
Ane Y Schmidt, Thomas V O Hansen, Lise B Ahlborn, Lars Jønson, Christina W Yde, Finn C Nielsen
Genetic testing of BRCA1/2 includes screening for single nucleotide variants and small indels as well as larger copy number variations (CNVs), primarily by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). With the advent of next-generation sequencing (NGS), it has become feasible to provide CNV information as well as sequence data using a single platform. We report the use of NGS gene panel sequencing on the Illumina MiSeq platform and JSI SeqPilot SeqNext software to call germline CNVs in BRCA1 and BRCA2...
August 16, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28822395/patient-and-tumor-disparities-in-breast-cancer-based-on-insurance-status
#2
Celia Quang, Seth Hill, Scott Blair, Donna Lynn Dyess, Joe Spencer Liles
This study seeks to determine whether uninsured breast cancer patients are more likely to present with advanced disease relative to insured patients. We retrospectively reviewed newly diagnosed breast cancer patients over a 27-month period. Patients were sorted based on insurance status at diagnosis. Demographic and tumor-specific data were collected and analyzed using nonparametric testing. We identified 276 breast tumors in 260 patients. Out of the 260 patients, 71 patients (27.3%) were uninsured and were more likely to be black (P < 0...
August 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28822389/mammographic-screening-at-age-40-or-45-what-difference-does-it-make-the-potential-impact-of-american-cancer-society-mammography-screening-guidelines
#3
Crystal E Fancher, Anthony Scott, Ahkeel Allen, Paul Dale
this is a 10-year retrospective chart review evaluating the potential impact of the most recent American Cancer Society mammography screening guidelines which excludes female patients aged 40 to 44 years from routine annual screening mammography. Instead they recommend screening mammography starting at age 45 with the option to begin screening earlier if the patient desires. The institutional cancer registry was systematically searched to identify all women aged 40 to 44 years treated for breast cancer over a 10-year period...
August 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28822325/are-there-regional-tendencies-toward-controversial-screening-practices-a-study-of-prostate-and-breast-cancer-screening-in-a-medicare-population
#4
Eric Raffin, Tracy Onega, Julie Bynum, Andrea Austin, Donald Carmichael, Kristen Bronner, Philip Goodney, Elias S Hyams
INTRODUCTION: Prostate and breast cancer screening in older patients continue to be controversial. Balancing the desire for early detection with avoidance of over-diagnosis has led to competing and contradictory guidelines for both practices. Despite similarities, it is not known how these screening practices are related at the regional level. In this study, we examined how screening PSA and mammography are related within healthcare regions, and, to better understand what may be driving these practices, whether they are associated with local intensity of care...
August 16, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28822001/trends-in-stage-specific-breast-cancer-incidence-in-new-south-wales-australia-insights-into-the-effects-of-25%C3%A2-years-of-screening-mammography
#5
Gemma Jacklyn, Kevin McGeechan, Les Irwig, Nehmat Houssami, Stephen Morrell, Katy Bell, Alexandra Barratt
PURPOSE: Screening mammography aims to improve breast cancer (BC) prognosis by increasing the incidence of early-stage tumours in order to decrease the incidence of late-stage cancer, but no reports have investigated these potential effects in an Australian population. Therefore we aimed to identify temporal trends in stage-specific BC in New South Wales (NSW), Australia, between 1972 and 2012. METHODS: An observational study of women who received a diagnosis of BC from 1972-2012 as recorded in the NSW Cancer Registry, a population-based registry with almost complete coverage and high rates of histological verification...
August 19, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28821281/white-blood-cell-dna-methylation-and-risk-of-breast-cancer-in-the-prostate-lung-colorectal-and-ovarian-cancer-screening-trial-plco
#6
Susan R Sturgeon, J Richard Pilsner, Kathleen F Arcaro, Kaoru Ikuma, Haotian Wu, Soon-Mi Kim, Nayha Chopra-Tandon, Adam R Karpf, Regina G Ziegler, Catherine Schairer, Raji Balasubramanian, David A Reckhow
BACKGROUND: Several studies have suggested that global DNA methylation in circulating white blood cells (WBC) is associated with breast cancer risk. METHODS: To address conflicting results and concerns that the findings for WBC DNA methylation in some prior studies may reflect disease effects, we evaluated the relationship between global levels of WBC DNA methylation in white blood cells and breast cancer risk in a case-control study nested within the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial (PLCO) cohort...
August 18, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28820618/college-women-s-responses-to-a-celebrity-health-disclosure
#7
Julia H Drizin, Vanessa L Malcarne, Melody K Schiaffino, Kristen J Wells
Celebrities can have a powerful influence on people's health-related attitudes and behaviors, often by publicly disclosing their own personal health decisions. In May 2013, Angelina Jolie, an internationally recognized actress, director, and author, wrote an op-ed for the New York Times disclosing her decision to undergo a prophylactic double mastectomy to reduce her risk of breast cancer after learning that she carried the BRCA1 gene mutation. This cross-sectional study examined whether exposure to Angelina Jolie and her mastectomy disclosure and parasocial involvement (PSI) with Angelina Jolie were related to female college students' perceived risk of breast cancer and breast cancer screening intentions...
August 18, 2017: Health Communication
https://www.readbyqxmd.com/read/28820521/feasibility-of-a-multicomponent-breast-health-education-intervention-for-vietnamese-american-immigrant-women
#8
Connie K Y Nguyen-Truong, Nisreen Pedhiwala, Vananh Nguyen, Cang Le, Tuong Vy Le, Christine Lau, Junghee Lee, Frances Lee-Lin
PURPOSE/OBJECTIVES: To determine the feasibility and acceptability of an intervention with targeted cultural and health belief messages to increase rates of mammography among Vietnamese American (VA) immigrant women. 
. DESIGN: One-group, pre-/post-test, pilot, quasiexperimental design.
. SETTING: Portland, Oregon, metropolitan area. 
. SAMPLE: 40 VA immigrant women aged 50 years or older.
. METHODS: Participants who had not had a mammogram within the past 12 months were recruited...
September 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28819862/radiation-dose-with-digital-breast-tomosynthesis-compared-to-digital-mammography-per-view-analysis
#9
Gisella Gennaro, D Bernardi, N Houssami
OBJECTIVES: To compare radiation dose delivered by digital mammography (FFDM) and breast tomosynthesis (DBT) for a single view. METHODS: 4,780 FFDM and 4,798 DBT images from 1,208 women enrolled in a screening trial were used to ground dose comparison. Raw images were processed by an automatic software to determine volumetric breast density (VBD) and were used together with exposure data to compute the mean glandular dose (MGD) according to Dance's model. DBT and FFDM were compared in terms of operation of the automatic exposure control (AEC) and MGD level...
August 17, 2017: European Radiology
https://www.readbyqxmd.com/read/28819443/predictive-value-of-primary-tumor-site-for-loco-regional-recurrence-in-early-breast-cancer-patients-with-one-to-three-positive-axillary-lymphadenophy
#10
Shaoqing Niu, Ge Wen, Yufeng Ren, Yiyang Li, Lingling Feng, Chengtao Wang, Xiaobo Huang, Bixiu Wen, Yujing Zhang
Introduction: It remains controversial on high risks for early breast cancer patients with one to three axillary nodes after mastectomy who is predisposition to locoregional recurrence. The present study is to investigate the relationship between primary tumor site and loco-regional recurrence (LRR) and explore the predictive value of clinicopathological characteristics in LRR for early breast cancer patients with one to three positive axillary lymph nodes after mastectomy. Methods: We reviewed the clinical data of 656 consecutively diagnosed patients with pT1-2N1M0 breast cancer who were treated in Sun Yat-sen University Cancer Center with radical operation without postoperative radiotherapy between March 1998 and December 2010...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28819437/impact-of-detection-method-and-accompanying-ductal-carcinoma-in-situ-on-prognosis-of-t1a-bn0-breast-cancer
#11
Shih-Che Shen, Shir-Hwa Ueng, Chan-Keng Yang, Chi-Chang Yu, Yung-Feng Lo, Hsien-Kun Chang, Yung-Chang Lin, Shin-Cheh Chen
Background: T1a,bN0 breast cancer is not easily detected. Before mammography became widespread, most cases were discovered only after the development of symptoms. The presence of ductal carcinoma in situ (DCIS) affects the detectability of associated invasive cancer; however, the prognostic value of concomitant DCIS is controversial. This study compared the characteristics of screening-detected and symptom-detected T1a,bN0 breast cancer, and investigated the impact of accompanying DCIS on detection and prognosis...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#12
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/28818247/alcohol-screening-and-brief-intervention-a-potential-role-in-cancer-prevention-for-young-adults
#13
Lela R McKnight-Eily, S Jane Henley, Patricia P Green, Erika C Odom, Daniel W Hungerford
Excessive or risky alcohol use is a preventable cause of significant morbidity and mortality in the U.S. and worldwide. Alcohol use is a common preventable cancer risk factor among young adults; it is associated with increased risk of developing at least six types of cancer. Alcohol consumed during early adulthood may pose a higher risk of female breast cancer than alcohol consumed later in life. Reducing alcohol use may help prevent cancer. Alcohol misuse screening and brief counseling or intervention (also called alcohol screening and brief intervention among other designations) is known to reduce excessive alcohol use, and the U...
September 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28815107/introducing-a-comprehensive-informatics-framework-to-promote-breast-cancer-risk-assessment-and-chemoprevention-in-the-primary-care-setting
#14
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/28814544/direct-detection-of-early-stage-cancers-using-circulating-tumor-dna
#15
Jillian Phallen, Mark Sausen, Vilmos Adleff, Alessandro Leal, Carolyn Hruban, James White, Valsamo Anagnostou, Jacob Fiksel, Stephen Cristiano, Eniko Papp, Savannah Speir, Thomas Reinert, Mai-Britt Worm Orntoft, Brian D Woodward, Derek Murphy, Sonya Parpart-Li, David Riley, Monica Nesselbush, Naomi Sengamalay, Andrew Georgiadis, Qing Kay Li, Mogens Rørbæk Madsen, Frank Viborg Mortensen, Joost Huiskens, Cornelis Punt, Nicole van Grieken, Remond Fijneman, Gerrit Meijer, Hatim Husain, Robert B Scharpf, Luis A Diaz, Siân Jones, Sam Angiuoli, Torben Ørntoft, Hans Jørgen Nielsen, Claus Lindbjerg Andersen, Victor E Velculescu
Early detection and intervention are likely to be the most effective means for reducing morbidity and mortality of human cancer. However, development of methods for noninvasive detection of early-stage tumors has remained a challenge. We have developed an approach called targeted error correction sequencing (TEC-Seq) that allows ultrasensitive direct evaluation of sequence changes in circulating cell-free DNA using massively parallel sequencing. We have used this approach to examine 58 cancer-related genes encompassing 81 kb...
August 16, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28814432/minimal-to-no-transfer-of-certolizumab-pegol-into-breast-milk-results-from-cradle-a-prospective-postmarketing-multicentre-pharmacokinetic-study
#16
Megan Eb Clowse, Frauke Förger, Caroline Hwang, John Thorp, Radboud Jem Dolhain, Astrid van Tubergen, Laura Shaughnessy, Jeff Simpson, Marie Teil, Nathalie Toublanc, Maggie Wang, Thomas W Hale
BACKGROUND: Women with chronic inflammatory diseases face uncertainty regarding the safety of biologics during breast feeding. CRADLE was the first industry-sponsored study to evaluate certolizumab pegol (CZP) concentrations in human breast milk and estimate average daily infant dose (ADID) of maternal CZP. METHODS: CRADLE (NCT02154425) was a pharmacokinetic study of lactating mothers receiving CZP. After ≥3 CZP doses, breast milk samples were collected across one dosing period (14 days for 200 mg every 2 weeks [Q2W]; 28 days for 400 mg every 4 weeks [Q4W])...
August 16, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28814288/monoallelic-characteristic-bearing-heterozygous-l1053x-in-brca2-gene-among-sudanese-women-with-breast-cancer
#17
Alsmawal A Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N Altayb, Mohamed Adel Taha, Mohammed N Nimir, Mohamed D Dafaalla, Musaab M Alfaki, Mohamed A Abdelrahim, Abdelmohaymin A Abdalla, Musab I Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC...
August 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28814091/the-effect-of-vitamin-d-on-mcf-7-breast-cancer-cell-metabolism
#18
B Saracligil, B Ozturk, A Unlu, S Abusoglu, G Tekin
The role of vitamin D in calcium absorption and bone health is known. The studies revealed that vitamin D modulates breast cancer cell growth and it is also associated with a reduced breast cancer risk. The primary objective of this study was to highlight the metabolic effect of Vitamin D on MCF-7 breast cancer cell line. For that purpose, we checked the apoptosis, energy, amino-acid and acylcarnitine levels in cancer cells, that the study propose, that 1α, 25(OH)2D3 could inhibit cell growth in a dose and time dependent manner...
2017: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/28813112/what-do-cochrane-systematic-reviews-say-about-the-clinical-effectiveness-of-screening-and-diagnostic-tests-for-cancer
#19
André Tito Pereira Bueno, Vladimir Lisboa Capelasso, Rafael Leite Pacheco, Carolina de Oliveira Cruz Latorraca, Tiago Biachi de Castria, Daniela Vianna Pachito, Rachel Riera
CONTEXT AND OBJECTIVE: The purpose of screening tests for cancer is to detect it at an early stage in order to increase the chances of treatment. However, their unrestrained use may lead to unnecessary examinations, overdiagnosis and higher costs. It is thus necessary to evaluate their clinical effects in terms of benefits and harm. DESIGN AND SETTING: Review of Cochrane systematic reviews, carried out in the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo...
July 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28812929/message-received-african-american-women-and-breast-cancer-screening
#20
Susan Racine Passmore, Kester F Williams-Parry, Erica Casper, Stephen B Thomas
African American women are more likely than other women to be diagnosed with breast cancer at a young age, to be diagnosed at a late stage, and to die from the disease. Yet we see evidence of irregular screening and follow-up. Previous research on psychosocial factors influencing decisions to screen reveals barriers: fear, fatalistic perceptions of cancer, inaccurate perceptions of risk, and associations with stigma. The current qualitative research with, largely, insured African American women ( n = 26), health navigators ( n = 6), and community stakeholders ( n = 24) indicates both positive and negative factors influencing decision making...
September 2017: Health Promotion Practice
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