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https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#1
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28338482/axillary-ultrasound-fine-needle-aspiration-biopsy-is-there-a-role-in-the-post-z-0011-era
#2
Sarah E Pesek, Heather M King, Susan Koelliker, Christina Raker, David Edmonson, Don S Dizon, Jennifer Gass
OBJECTIVES: Axillary ultrasound with fine needle aspiration (AXUSFNA) in early-stage breast cancer has required reappraisal. ACOSOG Z-0011 and after mapping of the axilla: radiotherapy or surgery have shown that women with limited nodal disease at sentinel lymph node biopsy got no survival advantage with completion axillary node dissection. We hypothesize that AXUSFNA may be sufficiently accurate for staging for some patients and sentinel lymph node biopsy need not be performed. We define the false negative rate (FNR) of AXUSFNA in different subsets of patients...
March 23, 2017: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28338430/trends-of-second-primary-malignancy-in-patients-with-thyroid-cancer-a-population-based-cohort-study-in-israel
#3
Elena Izkhakov, Micha Barchana, Irena Liphshiz, Barbara Silverman, Naftali Stern, Lital Keinan-Boker
BACKGROUND: Thyroid cancer (TC) is the most common endocrine malignancy. TC patients have a good prognosis and a low disease-related mortality rate. Since the patients are often young, they may be at a higher risk for a second primary malignancy (SPM). We sought to determine the incidence, risk and types of SPM between 1980-2011, and to assess SPM trends over time among Israeli TC patients. METHODS: Data were derived from the Israel National Cancer Registry. Primary TC patients diagnosed during 1980-2009 were followed-up for SPM incidence until December 31, 2011...
March 24, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28337998/circulating-tumor-cell-status-monitors-the-treatment-responses-in-breast-cancer-patients-a-meta-analysis
#4
Wen-Ting Yan, Xiang Cui, Qing Chen, Ya-Fei Li, You-Hong Cui, Yan Wang, Jun Jiang
Whether circulating tumor cells (CTCs) can be used as an indicator of treatment response in breast cancer (BC) needs to be clarified. We addressed this issue by a meta-analysis. PubMed, EMBase and Cochrane library databases were searched in June 2016. Effect measures were estimated as pooled risk ratio (RR), odds ratio (OR) or mean difference by fixed- or random-effect models, according to heterogeneity of included studies. In total, 50 studies with 6712 patients were recruited. Overall analysis showed that there was a significant reduction of CTC-positive rate (RR = 0...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28337954/clinical-value-of-capecitabine-based-combination-adjuvant-chemotherapy-in-early-breast-cancer-a-meta-analysis-of-randomized-controlled-trials
#5
Guanling Chen, Zhaoze Guo, Minfeng Liu, Guangyu Yao, Jianyu Dong, Jingyun Guo, Changsheng Ye
Capecitabine has consistently demonstrated high efficacy and acceptable tolerability in salvage chemotherapy for advanced breast cancer. However, there remains no consensus on its role in adjuvant chemotherapy for early breast cancer (EBC). To estimate the value of capecitabine-based combination adjuvant treatment in EBC, eight randomized controlled trials with 14,072 participants were analyzed. The efficacy and safety outcomes included disease-free survival (DFS), overall survival (OS), relapse, breast cancer-specific survival (BCSS), and grade 3-5 adverse events...
March 23, 2017: Oncology Research
https://www.readbyqxmd.com/read/28337673/progression-free-survival-as-a-surrogate-for-overall-survival-in-clinical-trials-of-targeted-therapy-in-advanced-solid-tumors
#6
Stefan Michiels, Everardo D Saad, Marc Buyse
Over the past 15 years, targeted therapy has revolutionized the systemic treatment of cancer. In parallel, there has been a growing debate on the choice of end points in clinical trials in oncology. This debate basically hinges on the choice between overall survival (OS) and progression-free survival (PFS). PFS is advantageous because it is measured earlier than OS, requires a smaller sample size than OS to achieve the desired power, and is not influenced by cross-over. On the other hand, PFS is prone to measurement error and bias, and may not capture the entire treatment effect on the outcomes of most interest to patients with an incurable disease: a prolonged survival and improved quality of life...
March 23, 2017: Drugs
https://www.readbyqxmd.com/read/28335515/dehydroepiandrosterone-dhea-feeding-protects-liver-steatosis-in-obese-breast-cancer-rat-model
#7
Reza Hakkak, Andrea Bell, Soheila Korourian
Obesity is a major health problem in the US and globally. Obesity is associated with the risk of cardiovascular disease, type 2 diabetes, cancers, hyperlipidemia, and liver steatosis development. Dehydroepiandrosterone (DHEA) is a dietary supplement used as an anti-obesity supplement. Previously, we reported that DHEA feeding protects 7,12-dimethylbenz(a)anthracene (DMBA)-induced mammary tumors. The objectives of this study were to investigate the effects of obesity and DHEA feeding on liver steatosis, body weight gain, and serum DHEA, DHEA sulfate (DHEA-S), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor binding protein-3 (IGFBP-3) levels...
March 20, 2017: Scientia Pharmaceutica
https://www.readbyqxmd.com/read/28335244/human-serum-albumin-nanoparticles-for-use-in-cancer-drug-delivery-process-optimization-and-in-vitro-characterization
#8
Nikita Lomis, Susan Westfall, Leila Farahdel, Meenakshi Malhotra, Dominique Shum-Tim, Satya Prakash
Human serum albumin nanoparticles (HSA-NPs) are widely-used drug delivery systems with applications in various diseases, like cancer. For intravenous administration of HSA-NPs, the particle size, surface charge, drug loading and in vitro release kinetics are important parameters for consideration. This study focuses on the development of stable HSA-NPs containing the anti-cancer drug paclitaxel (PTX) via the emulsion-solvent evaporation method using a high-pressure homogenizer. The key parameters for the preparation of PTX-HSA-NPs are: the starting concentrations of HSA, PTX and the organic solvent, including the homogenization pressure and its number cycles, were optimized...
June 15, 2016: Nanomaterials
https://www.readbyqxmd.com/read/28334950/downstream-targets-of-gwas-detected-genes-for-breast-lung-and-prostate-and-colon-cancer-converge-to-g1-s-transition-pathway
#9
Olga Y Gorlova, Eugene I Demidenko, Christopher I Amos, Ivan P Gorlov
Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usually show no or weak enrichment by known cancer genes.We hypothesized that GWAS-detected cancer risk-associated genes function as upstream regulators of the genes directly involved in carcinogenesis...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334947/protocadherin-19-pcdh19-interacts-with-paraspeckle-protein-nono-to-co-regulate-gene-expression-with-estrogen-receptor-alpha-er%C3%AE
#10
Duyen H Pham, Chuan Tan, Claire C Homan, Kristy Kolc, Mark Corbett, Dale McAninch, Archa Fox, Paul Thomas, Raman Kumar, Jozef Gecz
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in nuclear hormone receptor gene regulation, as a PCDH19 protein interacting partner...
March 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334423/are-there-patients-with-t1-to-t2-lymph-node-negative-breast-cancer-who-are-high-risk-for-locoregional-disease-recurrence
#11
Anita Mamtani, Sujata Patil, Michelle M Stempel, Monica Morrow
BACKGROUND: Indications for postmastectomy radiotherapy (PMRT) in patients with T1 to T2, lymph node-negative (N0) breast cancer with "high-risk" features are controversial. The European Organization for Research and Treatment of Cancer (EORTC) 22922 and National Cancer Institute of Canada Clinical Trials Group MA20 trials reporting improved 10-year disease-free survival with lymph node irradiation included patients with high-risk N0 disease, but, to the authors' knowledge, benefits in patients receiving modern systemic therapy are uncertain...
March 23, 2017: Cancer
https://www.readbyqxmd.com/read/28333356/the-safety-and-efficacy-of-controlled-ovarian-hyperstimulation-for-fertility-preservation-in-women-with-early-breast-cancer-a-systematic-review
#12
Rachael J Rodgers, Geoffrey D Reid, Juliette Koch, Rebecca Deans, William L Ledger, Michael Friedlander, Robert B Gilchrist, Kirsty A Walters, Jason A Abbott
STUDY QUESTION: Can controlled ovarian hyperstimulation (COH) for fertility preservation be effectively conducted in women with breast cancer without worsening their prognosis? SUMMARY ANSWER: COH with co-administration of letrozole suppresses oestradiol levels without significantly impacting oocyte yield or decreasing disease-free survival rates. WHAT IS KNOWN ALREADY: Oestradiol has the capacity to stimulate the proliferation of breast cancer cells...
February 27, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28333070/evaluation-of-mct1-mct4-and-cd147-genes-in-peripheral-blood-cells-of-breast-cancer-patients-and-their-potential-use-as-diagnostic-and-prognostic-markers
#13
Maria Cláudia de B Luz, Matheus M Perez, Ligia A Azzalis, Luiz Vinícius de A Sousa, Fernando Adami, Fernando L A Fonseca, Beatriz da C A Alves
BACKGROUND: Patients with breast cancer-the deadliest cancer among women-are at constant risk of developing metastasis. Oxidative stress and hypoxia are common feature of tumor cells that can proliferate even in a resultant metabolic acidosis. Despite the low extracellular pH, intracellular pH of tumor cells remains relatively normal, or even more alkaline due to the action of a membrane protein family known as monocarboxylate transporters (MCTs). The objective of this study was to verify the diagnostic and prognostic value of MCT1, MCT4 and CD147 in tumor and peripheral blood samples of patients with breast cancer undergoing chemotherapic treatment...
March 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28331996/use-of-complementary-and-integrative-medicine-among-german-breast-cancer-patients-predictors-and-implications-for-patient-care-within-the-praegnant-study-network
#14
Carlo Fremd, Carolin C Hack, Andreas Schneeweiss, Geraldine Rauch, Diethelm Wallwiener, Sara Yvonne Brucker, Florin-Andrei Taran, Andreas Hartkopf, Friedrich Overkamp, Hans Tesch, Tanja Fehm, Peyman Hadji, Wolfgang Janni, Diana Lüftner, Michael P Lux, Volkmar Müller, Johannes Ettl, Erik Belleville, Christof Sohn, Florian Schuetz, Matthias M Beckmann, Peter A Fasching, Markus Wallwiener
PURPOSE: The present study aims to analyze a cohort of advanced breast cancer patients in Germany to assess their interest in complementary and alternative medicine (CAM) and patient's use of most frequent CAM methods. PATIENTS AND METHODS: Based on the PREGNANT real-time breast cancer registry which is a multicenter study in Germany, questionnaires of 580 patients with advanced breast cancer were evaluated. The implemented questionnaire for CAM asked for general interest in CAM and for patient's use of different CAM methods at present and in the past...
March 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28331756/the-management-and-outcomes-of-male-breast-cancer
#15
Ömer Uslukaya, Metehan Gümüş, Hatice Gümüş, Zübeyir Bozdağ, Ahmet Türkoğlu
OBJECTIVE: Due to a lack of sufficient data, the treatment protocols for male breast cancer are usually the same as those used for female breast cancer. The aim of the current study was to present our clinical experience with male breast cancer. MATERIALS AND METHODS: The records of 37 patients who were treated for male breast cancer in our hospital between 2004 and 2014 were reviewed retrospectively. The data of patients were recorded and analyzed. RESULTS: The mean age of the patients was 63...
October 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331745/correlations-between-oncotype-dx-recurrence-score-and-classic-risk-factors-in-early-breast-cancer-results-of-a-prospective-multicenter-study-in-turkey
#16
Vahit Özmen, Ajlan Atasoy, Erhan Gökmen, Mustafa Özdoğan, Nilufer Güler, Cihan Uras, Engin Ok, Orhan Demircan, Abdurrahman Işıkkdoğan, Neslihan Cabioğlu, Fatma Şen, Pınar Saip
OBJECTIVE: Breast cancer is the most common malignancy among Turkish women and the rate of early stage disease is increasing. The Oncotype DX 21-gene assay is predictive of distant recurrence in ER-positive, HER2-negative early breast cancer. We aimed to evaluate the correlations between Recurrence Score (RS) and routine risk factors. MATERIALS AND METHODS: Ten academic centers across Turkey participated in this prospective trial. Consecutive patients with breast cancer who had pT1-3, pN0-N1mic, ER-positive, and HER2-negative tumors were identified at tumor conferences...
July 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331743/psychiatric-symptoms-and-psychosocial-problems-in-patients-with-breast-cancer
#17
REVIEW
Filiz İzci, Ahmet Serkan İlgün, Ebru Fındıklı, Vahit Özmen
Cancer is a physical disease and also one of the leading clinical manifestations where psychosocial problems are prevalent. Psychosocial problems that these patients may have in the long run include anxiety, uneasiness, mourning, helplessness, fatigue, impairment of concentration, sleep disorders, mental and cognitive reservation, sexual dysfunction, infertility, psychological distress, and psychiatric disorders. Psychosocial problems have a nature of underpinning the emergence of psychological troubles. The prevalence of psychological disorders in patients with cancer range from 29% to 47%...
July 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331738/sentinel-node-biopsy-in-special-histologic-types-of-invasive-breast-cancer
#18
Montserrat Solà, Mireia Recaj, Eva Castellà, Pere Puig, Josep Maria Gubern, Juan Francisco Julian, Manel Fraile
OBJECTIVE: To assess the feasibility of sentinel node biopsy (SNB) in ductal and lobular invasive breast cancer, a group of tumors known as special histologic type (SHT) of breast cancer. MATERIALS AND METHODS: Between January 1997 and July 2008, 2253 patients from 6 affiliated hospitals underwent SNB who had early breast cancer and clinically negative axilla. The patients' data were collected in a multicenter database. For lymphatic mapping, all patients received an intralesional dose of radiocolloid Tc-99m (4mCi in 0...
April 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331734/the-treatment-approach-and-social-support-needs-for-patients-with-breast-cancer
#19
Pınar Soylar, Metin F Genç
OBJECTIVE: Breast cancer is the most common type of cancer in women both in developed and developing countries. It has a higher mortality rate in low and middle income countries due to the late-stage diagnosis. The principal aim of this study was to investigate what patients with breast cancer did before presenting to Turgut Özal Medical Center and its relationship with late stage diagnosis. The study also aimed to identify the level of patients' perceived social support. MATERIALS AND METHODS: The study included 200 patients with breast cancer who were treated at the chemotherapy unit during 2013 and 2014...
April 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331364/silicone-induced-granuloma-of-breast-implant-capsule-sigbic-similarities-and-differences-with-anaplastic-large-cell-lymphoma-alcl-and-their-differential-diagnosis
#20
REVIEW
Eduardo de Faria Castro Fleury, Milena Morais Rêgo, Luciana Costa Ramalho, Veronica Jorge Ayres, Rodrigo Oliveira Seleti, Carlos Alberto Pecci Ferreira, Decio Roveda
Primary breast lymphoma is a rare disease and accounts for 0.5% of cases of breast cancer. Most primary breast lymphomas develop from B cells, and the involvement of T cells is rare. Anaplastic large cell lymphoma (ALCL) is a recently discovered T-cell lymphoma associated with breast implants. Only a few cases have been reported to date. It is believed that the incidence of ALCL is increasing because of the increasing number of breast implants. The clinical presentation is variable and can manifest as a palpable mass in the breast or armpit, breast pain, or capsular contracture...
2017: Breast Cancer: Targets and Therapy
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