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https://www.readbyqxmd.com/read/29752326/genetic-counseling-referral-rates-in-long-term-survivors-of-triple-negative-breast-cancer
#1
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/29742654/effects-of-cancer-genetic-panel-testing-on-at-risk-individuals
#2
Anja S Frost, Miriam Toaff, Tara Biagi, Elizabeth Stark, Allison McHenry, Rebecca Kaltman
OBJECTIVE: To evaluate the role of screening patients at increased risk for hereditary cancer syndromes with an extended panel of cancer predisposition genes to identify actionable genetic mutations. METHODS: A retrospective chart review was conducted of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Individuals presenting to the program were identified as at-risk by a personal or family history of cancer, by their health care provider, or by self-referral...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#3
Ettore Capoluongo, Giovanni Scambia, Jean-Marc Nabholtz
Background: Since the approval of the first poly (adenosine diphosphate [ADP]) ribose polymerase inhibitor (PARPi; olaparib [Lynparza™]) for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 are dynamically changing. Along with germline testing within the context of familial or sporadic ovarian cancer, patients are now being referred for BRCA1/2 genetic assay above all for treatment decisions: in this setting tumour BRCA assay can allow to identify an estimated 3-9% of patients with peculiar somatic BRCA1/2 mutations...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29682331/-brca-mutation-carrier-detection-a-model-based-cost-effectiveness-analysis-comparing-the-traditional-family-history-approach-and-the-testing-of-all-patients-with-breast-cancer
#4
Jan Norum, Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Dag Erik Undlien, Ellen Schlichting, Lovise Mæhle
Background: Identification of BRCA mutation carriers among patients with breast cancer (BC) involves costs and gains. Testing has been performed according to international guidelines, focusing on family history (FH) of breast and/or ovarian cancer. An alternative is testing all patients with BC employing sequencing of the BRCA genes and Multiplex Ligation Probe Amplification (MLPA). Patients and methods: A model-based cost-effectiveness analysis, employing data from Oslo University Hospital, Ullevål (OUH-U) and a decision tree, was done...
2018: ESMO Open
https://www.readbyqxmd.com/read/29558274/evaluation-of-a-streamlined-oncologist-led-brca-mutation-testing-and-counseling-model-for-patients-with-ovarian-cancer
#5
Nicoletta Colombo, Gloria Huang, Giovanni Scambia, Eva Chalas, Sandro Pignata, James Fiorica, Linda Van Le, Sharad Ghamande, Santiago González-Santiago, Isabel Bover, Begoña Graña Suárez, Andrew Green, Philippe Huot-Marchand, Yann Bourhis, Sudeep Karve, Christopher Blakeley
Purpose There is a growing demand for BRCA1/ 2 mutation ( BRCAm) testing in patients with ovarian cancer; however, the limited number of genetic counselors presents a potential barrier. To facilitate more widespread BRCAm testing in ovarian cancer, pretest counseling by the oncology team could shorten testing turnaround times and ease the pressure on genetic counselors. Patients and Methods The prospective, observational Evaluating a Streamlined Onco-genetic BRCA Testing and Counseling Model Among Patients With Ovarian Cancer (ENGAGE) study evaluated a streamlined, oncologist-led BRCAm testing pathway...
May 1, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29520501/feasibility-study-of-contralateral-risk-reducing-mastectomy-with-breast-reconstruction-for-breast-cancer-patients-with-brca-mutations-in-japan
#6
Akiyo Yoshimura, Seiko Okumura, Masataka Sawaki, Masaya Hattori, Junko Ishiguro, Yayoi Adachi, Haruru Kotani, Naomi Gondo, Ayumi Kataoka, Madoka Iwase, Sakura Onishi, Kayoko Sugino, Mitsuo Terada, Nanae Horisawa, Makiko Mori, Nobue Takaiso, Ikuo Hyodo, Hiroji Iwata
BACKGROUND: Contralateral risk-reducing mastectomy (CRRM) for breast cancer patients with BRCA mutations has been reported to not only reduce breast cancer incidence but also to improve survival. The National Comprehensive Cancer Network guidelines recommend providing CRRM to women with BRCA mutations who desire CRRM after risk-reduction counseling. However, in Japan, CRRM cannot be performed generally because it is not covered by health insurance. Thus, we conducted a feasibility study to confirm the safety of CRRM...
March 8, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29484698/intra-operative-evaluation-of-prophylactic-hysterectomy-and-salpingo-oophorectomy-specimens-in-hereditary-gynaecological-cancer-syndromes
#7
Serena Wong, Elena Ratner, Natalia Buza
AIMS: Prophylactic total hysterectomy (TH) and bilateral salpingo-oophorectomy (BSO) have become routine procedures in women at genetic risk for gynaecological malignancies. Intra-operative pathology diagnosis of an occult malignancy provides the opportunity for immediate surgical staging and helps to avoid a second surgery. However, no standard guidelines exist for optimal intra-operative evaluation (IOE) of these specimens. We performed a retrospective analysis of prophylactic TH and BSO cases to assess the presence of gross findings, frozen and permanent section sampling practices, frozen section diagnoses and diagnostic discrepancies...
February 26, 2018: Histopathology
https://www.readbyqxmd.com/read/29466291/recommendations-and-choices-for-brca-mutation-carriers-at-risk-for-ovarian-cancer-a-complicated-decision
#8
REVIEW
Kelsey E Lewis, Karen H Lu, Amber M Klimczak, Samuel C Mok
Current ovarian cancer screening guidelines in high-risk women vary according to different organizations. Risk reducing surgery remains the gold standard for definitive treatment in BRCA mutation carriers, but research advancements have created more short-term options for patients to consider. The decisions involved in how a woman manages her BRCA mutation status can cause a great deal of stress and worry due to the imperfect therapy options. The goal of this review was to critically analyze the screening recommendations and alternative options for high-risk ovarian cancer patients and evaluate how these discrepancies and choices affect a woman's management decisions...
February 21, 2018: Cancers
https://www.readbyqxmd.com/read/29441441/comparison-of-practice-guidelines-brcapro-and-genetic-counselor-estimates-to-identify-germline-brca1-and-brca2-mutations-in-pancreatic-cancer
#9
Robert C Grant, Spring Holter, Ayelet Borgida, Neesha C Dhani, David W Hedley, Jennifer J Knox, Mohammad R Akbari, George Zogopoulos, Steven Gallinger
Germline BRCA1 and BRCA2 (BRCA) mutation carriers with pancreatic ductal adenocarcinoma (PDAC) may benefit from precision therapies and their relatives should undergo tailored cancer prevention. In this study, we compared strategies to identify BRCA carriers with PDAC. Incident cases of PDAC were prospectively recruited for BRCA sequencing. Probands were evaluated using the National Comprehensive Cancer Network (NCCN) and the Ontario Ministry of Health and Long-Term Care (MOHLTC) guidelines. The probability of each proband carrying a mutation was estimated by surveying genetic counselors and using BRCAPRO...
February 13, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29429041/an-iphone-application-intervention-to-promote-surveillance-among-women-with-a-brca-mutation-pre-intervention-data
#10
Stephanie A Cohen, Courtney Lynam Scherr, Dawn M Nixon
Women with BRCA mutations, at significantly increased risk for breast and ovarian cancer, do not consistently adhere to management guidelines due to lack of awareness and challenges tracking appointments. We developed an iPhone application (app) to help BRCA carriers manage their surveillance. We explored baseline awareness and adherence to surveillance guidelines and analytic data from 21 months of app use. Descriptive statistics were calculated on responses (N = 86) to a survey about surveillance awareness and practices...
April 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29423568/a-two-phase-approach-to-developing-snap-an-iphone-application-to-support-appointment-scheduling-and-management-for-women-with-a-brca-mutation
#11
Courtney Lynam Scherr, Jessica L Feuston, Dawn M Nixon, Stephanie A Cohen
Professional organizations provide surveillance guidelines for BRCA1 and BRCA2 (BRCA) carriers with intact breasts and/or ovaries to facilitate early cancer detection. However, literature indicates adherence to surveillance guidelines is inconsistent at best. Using the Messaging Model for Health Communication Campaigns framework, we undertook a two-phase formative research approach to develop an intervention to promote adherence to surveillance guidelines. Discussion groups identified preferred intervention format and function in phase I...
April 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29344385/improving-attendance-to-genetic-counselling-services-for-gynaecological-oncology-patients
#12
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
Background: Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment...
2018: Gynecologic Oncology Research and Practice
https://www.readbyqxmd.com/read/29335492/assessing-the-effectiveness-of-nice-criteria-for-stratifying-breast-cancer-risk-in-a-uk-cohort
#13
Lucy A Littlejohn, Jim Gibbs, Lee B Jordan, Zosia H Miedzybrodzka, Christine Bell, David Goudie, Jacqueline Dunlop, Jonathan N Berg
Breast cancer risk is a common indication for referral to clinical genetics services. UK National Institute of Health and Care Excellence (NICE) guidelines use family history (FH) to stratify by 10-year risk of breast cancer from age 40. Patients are stratified into population risk (PR, 10-year risk <3%), moderate (MR, 3-8%) and high risk (HR, >8%). Women at increased risk are offered screening at or prior to age 40. To assess the clinical effectiveness of current risk stratification, FH data were obtained for all unaffected women with a FH of breast cancer aged <50, referred to cancer genetics from 2000-2010...
April 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29316072/the-impact-of-patient-age-on-breast-cancer-risk-prediction-models
#14
Suzanne B Coopey, Ahmet Acar, Molly Griffin, Jessica Cintolo-Gonzalez, Alan Semine, Kevin S Hughes
BACKGROUND: The impact of age on breast cancer risk model calculations at the population level has not been well documented. METHODS: Retrospective analysis of formal breast cancer risk assessment in 36 542 females ages 40-84 at a single institution from 02/2007 to 12/2009. Five-year and lifetime breast cancer risks were calculated using Gail, Tyrer-Cuzick version 6 (TC6), Tyrer-Cuzick version 7 (TC7), BRCAPRO, and Claus models. Risk of BRCA mutation was calculated using BRCAPRO, TC6, TC7, and Myriad...
January 8, 2018: Breast Journal
https://www.readbyqxmd.com/read/29287289/-current-german-and-american-guidelines-for-autologous-fat-grafting-a-transatlantic-comparison
#15
G Felix Broelsch, Sören Könneker, Ramin Ipaktchi, Peter M Vogt
CLINICAL PROBLEM: The renewed clinical interest in fat grafting for both reconstructive and aesthetic purposes prompted the American Society of Plastic Surgeons to establish a Fat Graft Task Force (AFGT) in 2009. Moreover, in 2015, the German Society of Plastic, Reconstructive and Aesthetic Surgeons (DGPRÄC), in cooperation with three relevant medical societies (DDG, DGMKG, DGGG), formulated statements on the provision of strategies for patient management and to guide physicians in clinical decision making, on the basis of the scientific literature, clinical experience and current laws...
December 2017: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29260391/applying-pre-participation-exercise-screening-to-breast-cancer-survivors-a-cross-sectional-study
#16
Lotachukwu T Igwebuike, Xiaochen Zhang, Justin C Brown, Kathryn H Schmitz
PURPOSE: Clinical guidelines recommend that breast cancer (BrCa) survivors be prescribed exercise. However, clinicians often do not prescribe exercise citing the presence of multiple health issues found among cancer survivors. No study has examined the proportion of BrCa survivors that can be prescribed a community/home-based unsupervised exercise program safely and independently, without further medical investigations or supervision. METHODS: Participants included BrCa survivors who received treatment at a university healthcare system between 2009 and 2014...
December 19, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/29228641/brca-mutations-in-the-manifestation-and-treatment-of-ovarian-cancer
#17
REVIEW
Zimin Pan, Xing Xie
BRCA genes are important for the integrity and stability of genetic material and play key roles in repairing DNA breaks via high fidelity homologous recombination. BRCA mutations are known to predispose carriers to gynecological malignancies, accounting for a majority of hereditary OC cases. Known to be lethal, OC is difficult to detect and control. Testing for BRCA mutations is a key step in the risk assessment, prognosis, treatment and prevention of OC and current clinical guidelines recommend BRCA mutation testing for all OCs of epithelial origin...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28933789/trends-in-utilization-and-costs-of-brca-testing-among-women-aged-18-64-years-in-the-united-states-2003-2014
#18
Zhuo Chen, Katherine Kolor, Scott D Grosse, Juan L Rodriguez, Julie A Lynch, Ridgely Fisk Green, W David Dotson, M Scott Bowen, Muin J Khoury
PurposeWe examined 12-year trends in BRCA testing rates and costs in the context of clinical guidelines, national policies, and other factors.MethodsWe estimated trends in BRCA testing rates and costs from 2003 to 2014 for women aged 18-64 years using private claims data and publicly reported revenues from the primary BRCA testing provider.ResultsThe percentage of women with zero out-of-pocket payments for BRCA testing increased during 2013-2014, after 7 years of general decline, coinciding with a clarification of Affordable Care Act coverage of BRCA genetic testing...
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#19
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
January 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28880857/brca-genetic-testing-and-receipt-of-preventive-interventions-among-women-aged-18-64-years-with-employer-sponsored-health-insurance-in-nonmetropolitan-and-metropolitan-areas-united-states-2009-2014
#20
Katherine Kolor, Zhuo Chen, Scott D Grosse, Juan L Rodriguez, Ridgely Fisk Green, W David Dotson, M Scott Bowen, Julie A Lynch, Muin J Khoury
PROBLEM/CONDITION: Genetic testing for breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations can identify women at increased risk for breast and ovarian cancer. These testing results can be used to select preventive interventions and guide treatment. Differences between nonmetropolitan and metropolitan populations in rates of BRCA testing and receipt of preventive interventions after testing have not previously been examined. PERIOD COVERED: 2009-2014...
September 8, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
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