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https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#1
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27878467/outcomes-of-retesting-brca-negative-patients-using-multigene-panels
#2
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Paine, Dana Zakalik
The utility of multigene panels in retesting patients who previously tested negative for a pathogenic mutation by BRCA1/2 testing is not well established. Patients who previously tested negative for a pathogenic BRCA1/2 mutation by standard sequencing, and who were seen in cancer genetics center between November 1, 2012 and June 30, 2015 for additional testing utilizing multigene panels, were identified using our genetic testing registry. Data on demographics, personal and family history of cancer, results of panel testing and the impact on patient management was collected retrospectively...
November 22, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27821315/current-perspectives-on-recommendations-for-brca-genetic-testing-in-ovarian-cancer-patients
#3
Ignace Vergote, Susana Banerjee, Anne-Marie Gerdes, Christi van Asperen, Christian Marth, Fatima Vaz, Isabelle Ray-Coquard, Dominique Stoppa-Lyonnet, Antonio Gonzalez-Martin, Jalid Sehouli, Nicoletta Colombo
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients...
December 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27769273/communicating-brca-research-results-to-patients-enrolled-in-international-clinical-trials-lessons-learnt-from-the-ago-ovar-16-study
#4
David J Pulford, Philipp Harter, Anne Floquet, Catherine Barrett, Dong Hoon Suh, Michael Friedlander, José Angel Arranz, Kosei Hasegawa, Hiroomi Tada, Peter Vuylsteke, Mansoor R Mirza, Nicoletta Donadello, Giovanni Scambia, Toby Johnson, Charles Cox, John K Chan, Martin Imhof, Thomas J Herzog, Paula Calvert, Pauline Wimberger, Dominique Berton-Rigaud, Myong Cheol Lim, Gabriele Elser, Chun-Fang Xu, Andreas du Bois
BACKGROUND: The focus on translational research in clinical trials has the potential to generate clinically relevant genetic data that could have importance to patients. This raises challenging questions about communicating relevant genetic research results to individual patients. METHODS: An exploratory pharmacogenetic analysis was conducted in the international ovarian cancer phase III trial, AGO-OVAR 16, which found that patients with clinically important germ-line BRCA1/2 mutations had improved progression-free survival prognosis...
October 21, 2016: BMC Medical Ethics
https://www.readbyqxmd.com/read/27749364/breast-cancer-genetics-and-risk-assessment
#5
Trevor Tejada-Bergés
As health care providers, we play a crucial role in the assessment of a patient's risk for hereditary breast cancer syndromes. The panorama of genetic assessment and testing has evolved dramatically since the identification of the BRCA genes. Next-generation sequencing technology has facilitated the development of multigene panels, but 1 consequence has been an increased identification of pathogenic variants at odds with a family history as well as variants of uncertain significance for which treatment guidelines are not defined...
December 2016: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27737975/identification-and-management-of-women-with-a-family-history-of-breast-cancer-practical-guide-for-clinicians
#6
REVIEW
Ruth Heisey, June C Carroll
OBJECTIVE: To summarize the best evidence on strategies to identify and manage women with a family history of breast cancer. SOURCES OF INFORMATION: A PubMed search was conducted using the search terms breast cancer, guidelines, risk, family history, management, and magnetic resonance imaging screening from 2000 to 2016. Most evidence is level II. MAIN MESSAGE: Taking a good family history is essential when assessing breast cancer risk in order to identify women suitable for referral to a genetic counselor for possible genetic testing...
October 2016: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/27709396/our-genes-our-selves-hereditary-breast-cancer-and-biological-citizenship-in-norway
#7
Kari Nyheim Solbrække, Håvard Søiland, Kirsten Lode, Birgitta Haga Gripsrud
In this paper we explore the rise of 'the breast cancer gene' as a field of medical, cultural and personal knowledge. We address its significance in the Norwegian public health care system in relation to so-called biological citizenship in this particular national context. One of our main findings is that, despite its claims as a measure for health and disease prevention, gaining access to medical knowledge of BRCA 1/2 breast cancer gene mutations can also produce severe instability in the individuals and families affected...
October 5, 2016: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/27664246/prevention-and-screening-in-brca-mutation-carriers-and-other-breast-ovarian-hereditary-cancer-syndromes-esmo-clinical-practice-guidelines-for-cancer-prevention-and-screening
#8
S Paluch-Shimon, F Cardoso, C Sessa, J Balmana, M J Cardoso, F Gilbert, E Senkus
No abstract text is available yet for this article.
September 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27589855/brca-testing-within-the-department-of-veterans-affairs-concordance-with-clinical-practice-guidelines
#9
Danielle S Chun, Brygida Berse, Vickie L Venne, Scott L DuVall, Kelly K Filipski, Michael J Kelley, Laurence J Meyer, Michael S Icardi, Julie A Lynch
Guideline-concordant cancer care is a priority within the Department of Veterans Affairs (VA). In 2009, the VA expanded its capacity to treat breast cancer patients within VA medical centers (VAMCs). We sought to determine whether male and female Veterans diagnosed with breast cancer received BRCA testing as recommended by the National Comprehensive Cancer Network (NCCN) guidelines on Genetic/Familial High-Risk Assessment in Breast and Ovarian Cancer (v. 1.2010-1.2012). Using the 2011-2012 VA Central Cancer Registry and BRCA test orders from Myriad Genetics, we conducted a retrospective study...
September 2, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27377827/long-term-survival-and-brca-status-in-male-breast-cancer-a-retrospective-single-center-analysis
#10
Piera Gargiulo, Matilde Pensabene, Monica Milano, Grazia Arpino, Mario Giuliano, Valeria Forestieri, Caterina Condello, Rossella Lauria, Sabino De Placido
BACKGROUND: Male breast cancer (MBC) is rare. Given the paucity of randomized trials, treatment is generally extrapolated from female breast cancer guidelines. METHODS: This is a retrospective analysis of all male patients presenting with MBC at the Department of Oncology at University Federico II of Naples between January 1989 and January 2014. We recorded the following data: baseline characteristics (age, height, weight, body mass index, risk factors, family history), tumor characteristics (side affected, stage, histotype, hormonal and HER2 status, and Ki-67 expression), treatment (type of surgery, chemotherapy, endocrine therapy, and/or radiotherapy), BRCA1/2 mutation status (if available), other tumors, and long-term survival...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27265406/adherence-to-recommended-risk-management-among-unaffected-women-with-a-brca-mutation
#11
Adam H Buchanan, Corrine I Voils, Joellen M Schildkraut, Catherine Fine, Nora K Horick, P Kelly Marcom, Kristi Wiggins, Celette Sugg Skinner
Identifying unaffected women with a BRCA mutation can have a significant individual and population health impact on morbidity and mortality if these women adhere to guidelines for managing cancer risk. But, little is known about whether such women are adherent to current guidelines. We conducted telephone surveys of 97 unaffected BRCA mutation carriers who had genetic counseling at least one year prior to the survey to assess adherence to current guidelines, factors associated with adherence, and common reasons for performing and not performing recommended risk management...
June 6, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27226207/evaluation-of-the-methods-to-identify-patients-who-may-benefit-from-parp-inhibitor-use
#12
REVIEW
Diana Lim, Joanne Ngeow
The effectiveness of poly (ADP-ribose) polymerase inhibitors (PARPi) in treating cancers associated with BRCA1/2 mutations hinges upon the concept of synthetic lethality and exemplifies the principles of precision medicine. Currently, most clinical trials are recruiting patients based on pathological subtypes or have included BRCA mutation analysis (germ line and/or somatic) as part of the selection criteria. Mounting evidence, however, suggests that these drugs may also be efficacious in tumors with defects in other genes involved in the homologous recombination repair pathway...
June 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27212693/is-a-one-year-follow-up-an-efficient-method-for-better-management-of-mri-bi-rads-%C3%A2-3-lesions
#13
Martine Boisserie-Lacroix, Caroline Ziadé, Gabrielle Hurtevent-Labrot, Stéphane Ferron, Véronique Brouste, Nicolas Lippa
OBJECTIVES: To evaluate the necessity of a prolonged follow-up after one year for lesions incidentally diagnosed as Breast Imaging Reporting and Data System (BI-RADS)(®) 3 on magnetic resonance imaging (MRI). METHODS: Institutional review board approved this study (CRC_june 2014_ project 11). We retrospectively analysed 218 consecutive MRI BI-RADS(®) 3 lesions in 110 women followed-up at 6, 12, 18 and/or 24 months from 2011 through to 2015. We excluded MRI scans of BRCA mutation carriers, in staging before treatment and in patients undergoing therapy for breast cancer...
June 2016: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/27206300/use-of-a-point-of-care-tool-to-improve-nurse-practitioner-brca-knowledge
#14
Mary Smania
BACKGROUND: Women who have been identified with a BRCA mutation benefit from a multidisciplinary, individualized medical evaluation to reduce their risk of developing cancers. Identifying women who would gain from testing for BRCA mutations is essential. Nurse practitioners (NPs) as primary care providers are important members of the healthcare team and are instrumental in identifying and referring women for testing. However, studies have shown that NPs lack knowledge about and confidence in identifying women at risk...
June 1, 2016: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/27117159/an-international-survey-of-surveillance-schemes-for-unaffected-brca1-and-brca2-mutation-carriers
#15
Dana Madorsky-Feldman, Miri Sklair-Levy, Tamar Perri, Yael Laitman, Shani Paluch-Shimon, Rita Schmutzler, Kerstin Rhiem, Jenny Lester, Beth Y Karlan, Christian F Singer, Tom Van Maerken, Kathleen Claes, Joan Brunet, Angel Izquierdo, Alex Teulé, Jong Won Lee, Sung-Won Kim, Banu Arun, Anna Jakubowska, Jan Lubinski, Katherine Tucker, Nicola K Poplawski, Liliana Varesco, Luigina Ada Bonelli, Saundra S Buys, Gillian Mitchell, Marc Tischkowitz, Anne-Marie Gerdes, Caroline Seynaeve, Mark Robson, Ava Kwong, Nadine Tung, Nalven Tessa, Susan M Domchek, Andrew K Godwin, Johanna Rantala, Brita Arver, Eitan Friedman
Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)-mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics...
June 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27041411/genetic-testing-in-pancreatic-ductal-adenocarcinoma-implications-for-prevention-and-treatment
#16
REVIEW
Mary Linton B Peters, Jennifer F Tseng, Rebecca A Miksad
PURPOSE: This article reviews the progress to date and future directions for investigation of germline and somatic genetic testing to inform pancreatic adenocarcinoma (PDAC) treatment, screening, and prevention strategies. METHODS: We searched PubMed to identify recent articles regarding genetic testing in pancreatic cancer, including both germline and somatic testing, and recent genome-wide association studies. References were specifically hand searched as relevant...
July 2016: Clinical Therapeutics
https://www.readbyqxmd.com/read/26941049/eligibility-criteria-and-genetic-testing-results-from-a-high-risk-cohort-for-hereditary-breast-and-ovarian-cancer-syndrome-in-southeastern-ontario
#17
Ricardo Dos Santos Vidal, Andrea Hawrysh, Jagdeep S Walia, Scott Davey, Harriet Feilotter
Germline mutations in breast and ovarian cancer are rare, with approximately 5% to 10% and 13% being hereditary in origin, respectively. In 2001, the Ontario Ministry of Health and Long Term Care, in an effort to contain costs, defined criteria to determine an individual's eligibility for BRCA genetic screening. We studied a cohort of individuals that have undergone genetic testing at Kingston General Hospital between 2001 and late 2013. We focused on determining whether the 13 risk criteria, defined by an expert working group for the Ontario Ministry of Health and Long Term Care, have performed according to expectations in this cohort...
May 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/26867710/brca1-and-brca2-mutation-testing-in-young-women-with-breast-cancer
#18
Shoshana M Rosenberg, Kathryn J Ruddy, Rulla M Tamimi, Shari Gelber, Lidia Schapira, Steven Come, Virginia F Borges, Bryce Larsen, Judy E Garber, Ann H Partridge
IMPORTANCE: BRCA testing is recommended for young women diagnosed as having breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients. OBJECTIVES: To describe the use of BRCA testing and to evaluate how concerns about genetic risk and use of genetic information affect subsequent treatment decisions in young women with breast cancer. DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional analysis of data collected following the opening of the study to accrual from October 10, 2006, through December 31, 2014, as part of the Helping Ourselves, Helping Others: Young Women's Breast Cancer Study, an ongoing prospective cohort study...
June 1, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/26809252/selecting-patients-with-ovarian-cancer-for-germline-brca-mutation-testing-findings-from-guidelines-and-a-systematic-literature-review
#19
REVIEW
Diana M Eccles, Judith Balmaña, Joe Clune, Birgit Ehlken, Annegret Gohlke, Ceri Hirst, Danielle Potter, Claudia Schroeder, Jerzy E Tyczynski, Encarnacion B Gomez Garcia
INTRODUCTION: One of the most significant risk factors for the development of ovarian cancer (OC) is a genetic mutation in BRCA1 (breast cancer gene 1) or BRCA2. Here we describe the impact of previous and current guidance on BRCA testing practices and provide evidence about which characteristics best identify patients with OC and an underlying germline BRCA mutation. METHODS: A search was conducted for guidelines recommending genetic testing to identify constitutional pathogenic mutations in the BRCA genes...
February 2016: Advances in Therapy
https://www.readbyqxmd.com/read/26748927/the-impact-of-an-interventional-counselling-procedure-in-families-with-a-brca1-2-gene-mutation-efficacy-and-safety
#20
Erica Sermijn, Liesbeth Delesie, Ellen Deschepper, Ingrid Pauwels, Maryse Bonduelle, Erik Teugels, Jacques De Grève
BACKGROUND: Predictive genetic testing has high impact on cancer prevention for BRCA carriers and passing this information in BRCA families is important. Mostly, this is proband-mediated but this path is defective and denies relatives lifesaving information. OBJECTIVE: To assess the efficacy/safety of an intervention, in which relatives are actively informed. DESIGN: Sequential prospective study in new BRCA families. The proband informed relatives about predictive testing (phase I)...
April 2016: Familial Cancer
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