keyword
MENU ▼
Read by QxMD icon Read
search

BRCA guidelines

keyword
https://www.readbyqxmd.com/read/28766213/expanded-gene-panel-use-for-women-with-breast-cancer-identification-and-intervention-beyond-breast-cancer-risk
#1
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...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28757302/-i-ve-just-never-gotten-around-to-doing-it-men-s-approaches-to-managing-brca-related-cancer-risks
#2
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
https://www.readbyqxmd.com/read/28740454/genetic-counselling-brca1-2-status-and-clinico-pathologic-characteristics-of-patients-with-ovarian-cancer-before-50-years-of-age
#3
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
https://www.readbyqxmd.com/read/28644335/practice-bulletin-number-179-breast-cancer-risk-assessment-and-screening-in-average-risk-women
#4
(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
https://www.readbyqxmd.com/read/28644328/practice-bulletin-no-179-summary-breast-cancer-risk-assessment-and-screening-in-average-risk-women
#5
(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
https://www.readbyqxmd.com/read/28637432/current-guidelines-for-brca-testing-of-breast-cancer-patients-are-insufficient-to-detect-all-mutation-carriers
#6
Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum, Ellen Schlichting
BACKGROUND: Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim of this report was to address these issues by evaluating the results of BRCA testing of BC patients in South-Eastern Norway...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28614062/brca-mutations-in-the-manifestation-and-treatment-of-ovarian-cancer
#7
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...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28574821/the-effect-of-thermal-dose-on-hyperthermia-mediated-inhibition-of-dna-repair-through-homologous-recombination
#8
Nathalie van den Tempel, Charlie Laffeber, Hanny Odijk, Wiggert A van Cappellen, Gerard C van Rhoon, Martine Franckena, Roland Kanaar
Hyperthermia has a number of biological effects that sensitize tumors to radiotherapy in the range between 40-44 °C. One of these effects is heat-induced degradation of BRCA2 that in turn causes reduced RAD51 focus formation, which results in an attenuation of DNA repair through homologous recombination. Prompted by this molecular insight into how hyperthermia attenuates homologous recombination, we now quantitatively explore time and temperature dynamics of hyperthermia on BRCA2 levels and RAD51 focus formation in cell culture models, and link this to their clonogenic survival capacity after irradiation (0-6 Gy)...
July 4, 2017: Oncotarget
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
#9
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
#10
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...
July 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28471604/a-dedicated-follow-up-clinic-for-brca-mutation-carriers
#11
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
#12
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...
July 10, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
REVIEW
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
#19
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
#20
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
keyword
keyword
115086
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"