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https://www.readbyqxmd.com/read/28527613/no-344-opportunistic-salpingectomy-and-other-methods-of-risk-reduction-for-ovarian-fallopian-tube-peritoneal-cancer-in-the-general-population
#1
Shannon Salvador, Stephanie Scott, Julie Ann Francis, Anita Agrawal, Christopher Giede
OBJECTIVE: This guideline reviews the potential benefits of opportunistic salpingectomy to prevent the development of high grade serous cancers (HGSC) of the ovary/fallopian tube/peritoneum based on current evidence supporting the fallopian tube origin of disease. INTENDED USERS: Gynaecologists, obstetricians, family doctors, registered nurses, nurse practitioners, residents, and health care providers. TARGET POPULATION: Adult women (18 and older): OPTIONS: Women considering hysterectomy who wish to retain their ovaries in situ have traditionally also retained their fallopian tubes...
June 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28495237/multigene-panels-in-ashkenazi-jewish-patients-yield-high-rates-of-actionable-mutations-in-multiple-non-brca-cancer-associated-genes
#2
Melissa K Frey, Gabriella Sandler, Rachel Sobolev, Sarah H Kim, Rachelle Chambers, Rebecca Y Bassett, Jessica Martineau, Katherine J Sapra, Leslie Boyd, John P Curtin, Bhavana Pothuri, Stephanie V Blank
OBJECTIVE: To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. METHODS: We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines...
May 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28471604/a-dedicated-follow-up-clinic-for-brca-mutation-carriers
#3
Rinat Yerushalmi, Shulamith Rizel, Dalia Zoref, Eran Sharon, Ram Eitan, Gad Sabah, Ahuva Grubstein, Yael Rafson, Maya Cohen, Ada Magen, Iehudit Birenboim, David Margel, Rachel Ozlavo, Aaron Sulkes, Baruch Brenner, Shlomit Perry
Women who carry the BRCA gene mutation have an up to 80% chance of developing cancer, primarily of breast and ovarian origin. Confirmation of carrier status is described by many women as an overwhelming, life-changing event. Healthy individuals harboring a BRCA mutation constitute a high risk population with unique needs, often overlooked by health authorities. As such, we felt the need to create a specialized service dedicated specifically to this high risk population. The clinic staff comprises an experienced multidisciplinary team of health professionals who can support the medical and emotional needs of this population...
September 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28398847/traceback-a-proposed-framework-to-increase-identification-and-genetic-counseling-of-brca1-and-brca2-mutation-carriers-through-family-based-outreach
#4
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, Charlisse F Caga-Anan, Ian G Campbell, Georgia Chenevix-Trench, Fergus J Couch, Michael Dean, Joanne A de Hullu, Susan M Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M Gaudet, Marline G Harmsen, Karen Hurley, Paul A James, Janice S Kwon, Felicitas Lacbawan, Stephanie Lheureux, Phuong L Mai, Leah E Mechanic, Lori M Minasian, Evan R Myers, Mark E Robson, Susan J Ramus, Lisa F Rezende, Patricia A Shaw, Thomas P Slavin, Elizabeth M Swisher, Masataka Takenaka, David D Bowtell, Mark E Sherman
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines...
April 11, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28364669/suggestion-of-brca1-c-5339t-c-p-l1780p-variant-confer-from-unknown-significance-to-likely-pathogenic-based-on-clinical-evidence-in-korea
#5
Jai Min Ryu, Goeun Kang, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Soo Youn Bae, Sungmin Park, Hyun-June Paik, Jong-Won Kim, Sung-Shin Park, Jeong Eon Lee, Sung-Won Kim
PURPOSE: We describe a rationale for the re-classification of the BRCA1 c.5539T>C (L1780P) variant using a clinical evidence. METHODS: A retrospective review was conducted to identify all patients with breast or ovarian cancer and the L1780P variant between 2002 and 2015 at a single institution. RESULTS: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer. Of the 160 BRCA 1/2 variant unknown significance, 16 (10...
March 29, 2017: Breast: Official Journal of the European Society of Mastology
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
#6
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 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28101677/emesis-and-nausea-related-to-single-agent-trabectedin-in-ovarian-cancer-patients-a-sub-study-of-the-mito15-project
#7
Marilena Di Napoli, Chiara Della Pepa, Laura Arenare, Giovanni Scambia, Domenica Lorusso, Francesco Raspagliesi, Gabriella Ferrandina, Vanda Salutari, Roberto Sorio, Anna Maria Mosconi, Giorgia Mangili, Lucia Borgato, Stefano Lepori, Angela Salvino, Sandro Pignata, Sabrina Chiara Cecere
The MITO 15 was a prospective, single-arm trial, evaluating trabectedin monotherapy in patients with recurrent ovarian cancer (OC) who were BRCA mutation-carriers or had a BRCAness phenotype. It is largely reported that trabectedin may induce nausea and vomiting but the real emetogenic potential of the drug, in the different schedules, has never been fully described; furthermore, OC patients are known to have an enhanced risk of developing nausea and vomiting due to female gender, abdominal spreading of the disease, and major surgery experienced by most of them...
June 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#8
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
#9
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
#10
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...
November 4, 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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
January 2017: Familial Cancer
https://www.readbyqxmd.com/read/27377827/long-term-survival-and-brca-status-in-male-breast-cancer-a-retrospective-single-center-analysis
#17
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
#18
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...
February 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27226207/evaluation-of-the-methods-to-identify-patients-who-may-benefit-from-parp-inhibitor-use
#19
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
#20
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
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