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BRCA guidelines

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
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 gynecologic malignancies. Intraoperative pathology diagnosis of an occult malignancy provides the opportunity for immediate surgical staging and helps avoiding a second surgery. However, no standard guidelines exist for optimal intraoperative 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
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
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
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...
February 10, 2018: Journal of Genetic Counseling
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...
February 8, 2018: Journal of Genetic Counseling
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
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...
January 15, 2018: European Journal of Human Genetics: EJHG
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
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
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
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
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
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...
September 19, 2017: International Journal of Gynecological Cancer
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
Erin O'Leary, Daniela Iacoboni, Jennifer Holle, Scott T Michalski, Edward D Esplin, Shan Yang, Karen Ouyang
BACKGROUND: Clinicians ordering multi-gene next-generation sequencing panels for hereditary breast cancer risk have a variety of test panel options. Many panels include lesser known breast cancer genes or genes associated with other cancers. The authors hypothesized that using broader gene panels increases the identification of clinically significant findings, some relevant and others incidental to the testing indication. They examined clinician ordering patterns and compared the yield of pathogenic or likely pathogenic (P/LP) variants in non-BRCA genes of female breast cancer patients...
October 2017: Annals of Surgical Oncology
Emily A Rauscher, Marleah Dean
OBJECTIVE: To examine men's approaches to managing BRCA-related cancer risks. METHODS: 25 Qualitative interviews were conducted with men who are at risk for BRCA-related cancers. Thematic analysis was conducted using the constant comparison. RESULTS: Qualitative analysis revealed two different approaches for how men managed their BRCA-related cancer risks. Men were engaged when: (1) initially seeking information, (2) uptake of genetic testing, and (3) population screening procedures...
July 23, 2017: Patient Education and Counseling
Mirjam Cvelbar, Marko Hocevar, Srdjan Novakovic, Vida Stegel, Andraz Perhavec, Mateja Krajc
BACKGROUND: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics...
June 2017: Radiology and Oncology
(no author information available yet)
Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4)...
July 2017: Obstetrics and Gynecology
(no author information available yet)
Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4)...
July 2017: Obstetrics and Gynecology
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