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https://www.readbyqxmd.com/read/29774471/age-at-first-full-term-birth-and-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers
#1
Joanne Kotsopoulos, Jacek Gronwald, Henry T Lynch, Andrea Eisen, Susan L Neuhausen, Nadine Tung, Peter Ainsworth, Jeffrey N Weitzel, Tuya Pal, William D Foulkes, Charis Eng, Christian F Singer, Leigha Senter, Ping Sun, Jan Lubinski, Steven A Narod
PURPOSE: In the general population, an early age at first full-term birth confers protection against the risk of developing breast cancer. The relationship between age at first birth and breast cancer risk is not clear for women with a mutation in the BRCA1 or BRCA2 gene. Thus, we undertook a case-control study of women with a BRCA1 or BRCA2 mutation to study the effects of age at first full-term birth matched for other reproductive factors. METHODS: Information about reproductive factors, including age at first birth as well as medical history, was collected from a routinely administered research questionnaire...
May 17, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29774317/frequency-of-rearrangements-versus-small-indels-mutations-in-brca1-and-brca2-genes-in-turkish-patients-with-high-risk-breast-and-ovarian-cancer
#2
Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip
Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Materials and Methods: The study included 1809 patients at high risk of breast cancer or ovarian cancer...
April 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29765774/how-shall-we-treat-early-triple-negative-breast-cancer-tnbc-from-the-current-standard-to-upcoming-immuno-molecular-strategies
#3
REVIEW
Ji Hyun Park, Jin-Hee Ahn, Sung-Bae Kim
Triple-negative breast cancer (TNBC) is a long-lasting orphan disease in terms of little therapeutic progress during the past several decades and still the standard of care remains chemotherapy. Experimental discovery of molecular signatures including the 'BRCAness' highlighted the innate heterogeneity of TNBC, generating the diversity of TNBC phenotypes. As it contributes to enhancing genomic instability, it has widened the therapeutic spectrum of TNBC. In particular, unusual sensitivity to DNA damaging agents was denoted in patients with BRCA deficiency, suggesting therapeutic benefit from platinum and poly(ADP-ribose) polymerase inhibitors...
2018: ESMO Open
https://www.readbyqxmd.com/read/29765551/functional-significance-of-co-occurring-mutations-in-pik3ca-and-map3k1-in-breast-cancer
#4
Alvaro Avivar-Valderas, Robert McEwen, Amir Taheri-Ghahfarokhi, Larissa S Carnevalli, Elizabeth L Hardaker, Marcello Maresca, Kevin Hudson, Elizabeth A Harrington, Francisco Cruzalegui
The PI3Kα signaling pathway is frequently hyper-activated in breast cancer (BrCa), as a result of mutations/amplifications in oncogenes (e.g. HER2 ), decreased function in tumor suppressors (e.g. PTEN ) or activating mutations in key components of the pathway. In particular, activating mutations of PIK3CA (~45%) are frequently found in luminal A BrCa samples. Genomic studies have uncovered inactivating mutations in MAP3K1 (13-20%) and MAP2K4 (~8%), two upstream kinases of the JNK apoptotic pathway in luminal A BrCa samples...
April 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29753961/the-role-of-parp-inhibition-in-triple-negative-breast-cancer-unraveling-the-wide-spectrum-of-synthetic-lethality
#5
REVIEW
Marios Papadimitriou, Giannis Mountzios, Christos A Papadimitriou
Triple-negative breast cancer (TNBC) accounts for approximately 15-20% of all breast cancers and is characterized by a lack of immunohistochemical expression of estrogen receptors (ER), progesterone receptors (PR) and HER2. TNBC is associated with poor long-term outcomes compared with other breast cancer subtypes. Many of these tumors are also basal-like cancers which are characterized by an aggressive biological behavior with a distant recurrence peak observed early at 3 years following diagnosis. Furthermore, metastatic TNBC bears a dismal prognosis with an average survival of 12 months...
May 2, 2018: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29752326/genetic-counseling-referral-rates-in-long-term-survivors-of-triple-negative-breast-cancer
#6
Carlos H Barcenas, Maryam N Shafaee, Arup K Sinha, Akshara Raghavendra, Babita Saigal, Rashmi K Murthy, Ashley H Woodson, Banu Arun
Background: Inherited BRCA gene mutations (pathogenic variants) cause 10% of breast cancers. BRCA pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry BRCA pathogenic variants. The 2018 NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend genetic counseling referrals for patients with TNBC diagnosed at age ≤60 years. This study sought to describe genetic counseling referral patterns among long-term TNBC survivors at The University of Texas MD Anderson Cancer Center...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29747489/different-patterns-of-risk-reducing-decisions-in-affected-or-unaffected-brca-pathogenic-variant-carriers
#7
Eun-Gyeong Lee, Hyok Jo Kang, Myong Cheol Lim, Boyoung Park, Soo Jin Park, So-Youn Jung, Seeyoun Lee, Han-Sung Kang, Sang-Yoon Park, Boram Park, Jungnam Joo, Jai Hong Han, Sun-Young Kong, Eun Sook Lee
Purpose: The purpose of this study was to investigate decision patterns to reduce the risks of BRCA-related breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and risk-reducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers. Materials and Methods: The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016...
May 4, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29743035/mammographic-density-changes-in-surgical-weight-loss-an-indication-for-personalized-screening
#8
Natalia Partain, Ali Mokdad, Nancy Puzziferri, Jessica Porembka, Stephen Seiler, Alana Christie, Deborah Farr, Aeisha Rivers, A Marilyn Leitch, Rachel Wooldridge, James Huth, Roshni Rao
BACKGROUND: Obesity and high radiologic breast density independently increase breast cancer risk. We evaluated the effect of surgical weight loss on mammographic density (MD). METHODS: Patients undergoing bariatric surgery and screening mammography (MG) were identified, data regarding demographics, comorbidities, calculated and genetic breast cancer risk was collected. Patients had a MG before and after surgery. Fellowship-trained breast radiologists assigned Breast Imaging Reporting and Data System density categories...
May 9, 2018: BMC Medical Imaging
https://www.readbyqxmd.com/read/29737473/uptake-of-brca-1-2-and-oncotype-dx-testing-by-medical-and-surgical-oncologists
#9
Yonina R Murciano-Goroff, Anne Marie McCarthy, Mirar N Bristol, Peter Groeneveld, Susan M Domchek, U Nkiru Motanya, Katrina Armstrong
PURPOSE: The diffusion of genomic testing is critical to the success of precision medicine, but there is limited information on oncologists' uptake of genetic technology. We aimed to assess the frequency with which medical oncologists and surgeons order BRCA 1/2 and Oncotype DX testing for breast cancer patients. METHODS: We surveyed 732 oncologists and surgeons treating breast cancer patients. Physicians were from Florida, New York, New Jersey, and Pennsylvania, and were listed in the 2010 AMA Masterfile or identified by patients...
May 8, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29733524/safety-and-pharmacokinetics-of-veliparib-extended-release-in-patients-with-advanced-solid-tumors-a-phase-i-study
#10
Theresa L Werner, Jasgit Sachdev, Elizabeth M Swisher, Martin Gutierrez, Muaiad Kittaneh, Mark N Stein, Hao Xiong, Martin Dunbar, Danielle Sullivan, Philip Komarnitsky, Mark McKee, Antoinette R Tan
The poly(ADP-ribose) polymerase-1/2 inhibitor veliparib is active against tumors deficient in homologous DNA damage repair. The pharmacokinetics and safety of veliparib extended-release (ER) were evaluated in patients with advanced solid tumors. This phase I study assessed veliparib-ER up to 800 mg once daily or 600 mg twice daily. Dose-limiting toxicities (DLTs), recommended phase II dose (RP2D), and maximum tolerated dose (MTD) were assessed in cycle 1 and safety/tolerability during continuous administration (28-day cycles)...
May 7, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29733510/contralateral-prophylactic-mastectomy-rate-and-predictive-factors-among-patients-with-breast-cancer-who-underwent-multigene-panel-testing-for-hereditary-cancer
#11
Nisreen Elsayegh, Rachel D Webster, Angelica M Gutierrez Barrera, Heather Lin, Henry M Kuerer, Jennifer K Litton, Isabelle Bedrosian, Banu K Arun
Although multigene panel testing is increasingly common in patients with cancer, the relationship between its use among breast cancer patients with non-BRCA mutations or variants of uncertain significance (VUS) and disease management decisions has not been well described. This study evaluated the rate and predictive factors of CPM patients who underwent multigene panel testing. Three hundred and fourteen patients with breast cancer who underwent multigene panel testing between 2014 and 2017 were included in the analysis...
May 7, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29731982/gene-specific-methylation-profiles-in-brca-mutation-positive-and-brca-mutation-negative-male-breast-cancers
#12
Piera Rizzolo, Valentina Silvestri, Virginia Valentini, Veronica Zelli, Ines Zanna, Giovanna Masala, Simonetta Bianchi, Domenico Palli, Laura Ottini
Male breast cancer (MBC) is a rare disease. Due to its rarity, MBC research and clinical approach are mostly based upon data derived from female breast cancer (FBC). Increasing evidence indicate that on molecular level MBC may be an heterogeneous disease different from FBC. In order to investigate whether epigenetic signatures could define molecular subgroups of MBCs, we performed promoter methylation analysis of genes involved in signal transduction and hormone signalling in BRCA1/2 mutation-positive and -negative MBCs...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29728083/metabolomic-profiles-in-breast-cancer-a-pilot-case-control-study-in-the-breast-cancer-family-registry
#13
Marcelle M Dougan, Yuqing Li, Lisa W Chu, Robert W Haile, Alice S Whittemore, Summer S Han, Steven C Moore, Joshua N Sampson, Irene L Andrulis, Esther M John, Ann W Hsing
BACKGROUND: Metabolomics is emerging as an important tool for detecting differences between diseased and non-diseased individuals. However, prospective studies are limited. METHODS: We examined the detectability, reliability, and distribution of metabolites measured in pre-diagnostic plasma samples in a pilot study of women enrolled in the Northern California site of the Breast Cancer Family Registry. The study included 45 cases diagnosed with breast cancer at least one year after the blood draw, and 45 controls...
May 5, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29725888/brca-mutations-and-their-influence-on-pathological-complete-response-and-prognosis-in-a-clinical-cohort-of-neoadjuvantly-treated-breast-cancer-patients
#14
Marius Wunderle, Paul Gass, Lothar Häberle, Vivien M Flesch, Claudia Rauh, Mayada R Bani, Carolin C Hack, Michael G Schrauder, Sebastian M Jud, Julius Emons, Ramona Erber, Arif B Ekici, Juliane Hoyer, Georgia Vasileiou, Cornelia Kraus, Andre Reis, Arndt Hartmann, Michael P Lux, Matthias W Beckmann, Peter A Fasching, Alexander Hein
PURPOSE: BRCA1/2 mutations influence the molecular characteristics and the effects of systemic treatment of breast cancer. This study investigates the impact of germline BRCA1/2 mutations on pathological complete response and prognosis in patients receiving neoadjuvant systemic chemotherapy. METHODS: Breast cancer patients were tested for a BRCA1/2 mutation in clinical routine work and were treated with anthracycline-based or platinum-based neoadjuvant chemotherapy between 1997 and 2015...
May 3, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29725191/sistas-inspiring-sistas-through-activity-and-support-sistas-study-design-and-demographics-of-participants
#15
Malcolm Bevel, Oluwole A Babatunde, Sue P Heiney, Heather M Brandt, Michael D Wirth, Thomas G Hurley, Samira Khan, Hiluv Johnson, Cassandra M Wineglass, Tatiana Y Warren, E Angela Murphy, Erica Sercy, Amanda S Thomas, James R Hébert, Swann Arp Adams
Introduction: Recruiting racial, ethnic, and other underserved minorities into conventional clinic-based and other trials is known to be challenging. The Sistas Inspiring Sistas Through Activity and Support (SISTAS) Program was a one-year randomized controlled trial (RCT) to promote physical activity and healthy eating among AA women in SC to reduce inflammatory biomarkers, which are linked to increased breast cancer (BrCa) risk and mortality. This study describes the development, recruitment, and implementation of the SISTAS clinical trial and provides baseline characteristics of the study participants...
2018: Ethnicity & Disease
https://www.readbyqxmd.com/read/29721474/practical-consensus-recommendation-on-when-to-do-brca-testing
#16
Purvish M Parikh, J Wadhwa, S Minhas, A Gupta, S Mittal, S Ranjan, P Mehta, R Singh, S P Kataria, S Salim, M Ahmed, S Aggarwal
BRCA -mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists...
April 2018: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/29719582/platinum-based-neoadjuvant-chemotherapy-in-brca1-positive-breast-cancer-a-retrospective-cohort-analysis-and-literature-review
#17
Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne, Janis Gardovskis
Background: There is increasing evidence of high platinum sensitivity in BRCA -associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based chemotherapy for BRCA1-positive breast cancer in a neoadjuvant setting. Methods: A retrospective study was performed by obtaining information from patient files. The results were compared with the available data from a literature review. Results: Twelve female patients with BRCA1 gene mutations who had stage I to III breast cancers were eligible for evaluation...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29713993/influences-on-satisfaction-with-reconstructed-breasts-and-intimacy-in-younger-women-following-bilateral-prophylactic-mastectomy-a-qualitative-analysis
#18
Rachael Glassey, Moira O'Connor, Angela Ives, Christobel Saunders, Sarah J Hardcastle
PURPOSE: The aim of this study was to explore the influences on satisfaction with reconstructed breasts and intimacy following bilateral prophylactic mastectomy (BPM) in younger women (< 35) with a strong family history of breast cancer. METHODS: Twenty-six women who had undergone BPM between 1 and6 years ago were recruited from New Zealand and Australia through a genetics clinic, registry, research cohort, and online (Mage  = 31). Twenty-three were BRCA mutation carriers...
April 30, 2018: International Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/29698926/outcomes-of-systemic-therapy-for-advanced-triple-negative-breast-cancer-a-single-centre-experience
#19
Nicolò Matteo Luca Battisti, David Okonji, Thubeena Manickavasagar, Kabir Mohammed, Mark Allen, Alistair Ring
BACKGROUND: Prognosis is worse for advanced triple-negative breast cancer (aTNBC) compared to other disease subtypes. Trials describe treatment outcomes in single specified lines of therapy; but few data describe treatment outcomes across the whole treatment pathway, which is critical in determining when patients should be referred for trials and to inform discussion. We evaluated treatment outcomes for aTNBC (overall response rate [ORR], median progression-free survival [mPFS] and median overall survival [mOS]) in patients treated largely outside of clinical trials...
April 23, 2018: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29698810/molecularly-imprinted-polymers-based-electrochemical-dna-biosensor-for-the-determination-of-brca-1-amplified-by-sio-2-ag
#20
Min You, Shuai Yang, Wanxin Tang, Fan Zhang, Pingang He
A novel electrochemical DNA (E-DNA) biosensing strategy was designed and used for the detection of breast cancer susceptibility gene (BRCA-1). The biosensor was based on gold nanoparticles-reduced graphene oxide (AuNPs-GO) modified glass carbon electrode (GCE) covered with the layer of molecularly imprinted polymers (MIPs) synthesized with rhodamine B (RhB) as template, methacrylic acid (MAA) as the monomer, and Nafion as additive. The signal amplification tracing tag SiO2 @Ag NPs were prepared by covering AgNPs on the surface of SiO2 nanoparticles in situ, and then DNA probes were modified on AgNPs by Ag-S bond, forming the composites SiO2 @Ag/DNA...
April 18, 2018: Biosensors & Bioelectronics
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