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https://www.readbyqxmd.com/read/28423802/a-lens-for-evaluating-genetic-information-governance-models-balancing-equity-efficiency-and-sustainability
#1
Espen Skorve, Polyxeni Vassilakopoulou, Margunn Aanestad, Thomas Grünfeld
This paper draws from the literature on collective action and the governance of the commons to address the governance of genetic data on variants of specific genes. Specifically, the data arrangements under study relate to the BRCA genes (BRCA1 and BRCA2) which are linked to breast and ovarian cancer. These data are stored in global genetic data repositories and accessed by researchers and clinicians, from both public and private institutions. The current BRCA data arrangements are fragmented and politicized as there are multiple tensions around data ownership and sharing...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28423363/multiple-gene-panel-analysis-in-a-case-series-of-255-women-with-hereditary-breast-and-ovarian-cancer
#2
Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Ilaria Cangini, Francesca Pirini, Elisabetta Petracci, Andrea Rocca, Fabio Falcini, Dino Amadori, Daniele Calistri
As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management.BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS...
April 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28407998/a-cost-effectiveness-evaluation-of-germline-brca1-and-brca2-testing-in-uk-women-with-ovarian-cancer
#3
Anthony Eccleston, Anthony Bentley, Matthew Dyer, Ann Strydom, Wim Vereecken, Angela George, Nazneen Rahman
OBJECTIVES: To evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed "BRCA") testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first- and second-degree relatives of BRCA mutation-positive individuals, compared with no testing. Female BRCA mutation-positive relatives of patients with ovarian cancer could undergo risk-reducing mastectomy and/or bilateral salpingo-oophorectomy. METHODS: A cost-effectiveness model was developed that included the risks of breast and ovarian cancer; the costs, utilities, and effects of risk-reducing surgery on cancer rates; and the costs, utilities, and mortality rates associated with cancer...
April 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28404569/analysis-suggests-wider-use-for-parp-inhibitors
#4
(no author information available yet)
Researchers have developed a new tool, HRDetect, to pinpoint tumors that display BRCA deficiency but don't harbor BRCA1/2 mutations. Evaluating their method in breast, ovarian, and pancreatic cancers, they identified patients whose tumors were potentially vulnerable to PARP inhibition but who didn't carry these mutations.
April 12, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28403964/-can-new-molecular-profiles-in-epithelial-ovarian-cancer-modify-therapeutics
#5
REVIEW
V Lavoué, A Rousselin, S Delplanque, M Pinsard, S Henno, F Foucher, J Levêque, T de la Motte Rouge
Epithelial ovarian cancer (EOC) affects 4500 women a year in France, with a survival of 30% at 5 years. Treatment is based on extensive surgery and chemotherapy. Around 15% of EOCs are due to genetic mutation predisposition essentially with mutated BRCA1 and BRCA2 genes. Four histological subtypes are described (serous, endometrioid, and mucinous cells to clear), corresponding to different carcinogenesis and distinct molecular mutations. High-grade serous EOCs have a mutation of the BRCA genes in 20-30% of cases...
February 2017: J Gynecol Obstet Hum Reprod
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
#6
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/28398407/-reflections-on-treatments-for-infertility-and-the-possible-occurrence-of-ovarian-carcinomas
#7
Giovanna Ferranti, Romana Prosperi Porta, Valentina Lucia La Rosa, Salvatore Giovanni Vitale, Antonio Simone Laganà
In the last decade the use of assisted reproduction techniques (ART) significantly increased and, due to the improved quality of the procedures and management of patients, it has led to progressively better outcomes. In parallel, the latest literature data show an increased incidence of ovarian cancer, that to date does not have a protocol with high sensitivity and specificity for early diagnosis. Considering the accumulating evidence about the etiology of ovarian cancer, it has been postulated a correlation between the increasing use of necessary and propaedeutic pharmacological treatments for ART and the increased incidence of this tumor...
March 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28385363/-when-information-is-not-enough-a-model-for-understanding-brca-positive-previvors-information-needs-regarding-hereditary-breast-and-ovarian-cancer-risk
#8
Marleah Dean, Courtney L Scherr, Meredith Clements, Rachel Koruo, Jennifer Martinez, Amy Ross
OBJECTIVE: To investigate BRCA-positive, unaffected patients' - referred to as previvors - information needs after testing positive for a deleterious BRCA genetic mutation. METHODS: 25 qualitative interviews were conducted with previvors. Data were analyzed using the constant comparison method of grounded theory. RESULTS: Analysis revealed a theoretical model of previvors' information needs related to the stage of their health journey. Specifically, a four-stage model was developed based on the data: (1) pre-testing information needs, (2) post-testing information needs, (3) pre-management information needs, and (4) post-management information needs...
March 10, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28382503/cost-effectiveness-of-different-strategies-to-prevent-breast-and-ovarian-cancer-in-german-women-with-a-brca-1-or-2-mutation
#9
Dirk Müller, Marion Danner, Kerstin Rhiem, Björn Stollenwerk, Christoph Engel, Linda Rasche, Lisa Borsi, Rita Schmutzler, Stephanie Stock
BACKGROUND: Women with a BRCA1 or BRCA2 mutation are at increased risk of developing breast and/or ovarian cancer. This economic modeling study evaluated different preventive interventions for 30-year-old women with a confirmed BRCA (1 or 2) mutation. METHODS: A Markov model was developed to estimate the costs and benefits [i.e., quality-adjusted life years (QALYs), and life years gained (LYG)] associated with prophylactic bilateral mastectomy (BM), prophylactic bilateral salpingo-oophorectomy (BSO), BM plus BSO, BM plus BSO at age 40, and intensified surveillance...
April 5, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/28374142/insights-into-brca1-2-genetic-counseling-from-ethnically-diverse-latina-breast-cancer-survivors
#10
Neha Rajpal, Juliana Muñoz, Beth N Peshkin, Kristi D Graves
Despite the disproportionate underuse of genetic counseling and testing for BRCA1/2 (BRCA)-associated hereditary breast and ovarian cancer (HBOC) risk among Latinas, little is known about the associated barriers and facilitators. We conducted in-depth qualitative interviews with 20 at-risk Latina women from diverse backgrounds. Eligible women were diagnosed with breast cancer <50 years, with or without a family history of breast and/or ovarian cancer (>1 first-degree relative diagnosed <50 years)...
April 4, 2017: Journal of Genetic Counseling
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
#11
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/28356928/a-novel-hysteroscopic-approach-for-ovarian-cancer-screening-early-diagnosis
#12
Salvatore Gizzo, Marco Noventa, Michela Quaranta, Amerigo Vitagliano, Carlo Saccardi, Pietro Litta, Donato Antona
The lethality of epithelial ovarian cancer (EOC) may be due to common misconceptions regarding etiology and the absence of effective screening and early diagnostic tools. Reviews of histopathological surveys performed on the resected fallopian tubes of breast cancer (BRCA) mutation carriers, who underwent risk-reducing salpingo-oophorectomy, unexpectedly revealed the presence of occult carcinomas of the fallopian tubes. This finding prompted studies that demonstrated the most accredited theory of type II EOC development, which suggests that a large proportion of these tumors are derived from the fallopian tube...
February 2017: Oncology Letters
https://www.readbyqxmd.com/read/28342662/use-of-brca-mutation-test-in-the-u-s-2004-2014
#13
Fangjian Guo, Jacqueline M Hirth, Yu-Li Lin, Gwyn Richardson, Lyuba Levine, Abbey B Berenson, Yong-Fang Kuo
INTRODUCTION: BRCA mutation testing has been used for screening women at high risk of breast and ovarian cancer and for selecting the best treatment for those with breast cancer. To optimize the infrastructure and medical resources allocation for genetic testing, it is important to understand the use of BRCA mutation testing in the U.S. health system. METHODS: This retrospective cohort study included 53,254 adult women with insurance claims for BRCA mutation testing between 2004 and 2014 from Clinformatics(TM) Data Mart Database...
March 18, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28337671/a-psychological-perspective-on-factors-predicting-prophylactic-salpingo-oophorectomy-in-a-sample-of-italian-women-from-the-general-population-results-from-a-hypothetical-study-in-the-context-of-brca-mutations
#14
Teresa Gavaruzzi, Alessandra Tasso, Marzena Franiuk, Liliana Varesco, Lorella Lotto
The aim of this study was to assess attitudes toward ovarian cancer risk management options for BRCA mutation carriers in healthy Italian women, and to identify predictors of the preference for risk reducing salpingo-oophorectomy (RRSO) over surveillance. One hundred eighty-one women aged 30-45 completed a questionnaire about preferences, knowledge, risk perception, and socio-demographic information. Participants were randomly presented with a pamphlet about BRCA1 or BRCA2 mutation-specific testing, consequences of testing and preventive options for carriers, and they were stratified by having children or not and by age group...
March 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28327944/a-phase-2-randomized-double-blind-placebo-%C3%A2-controlled-study-of-chemo-immunotherapy-combination-using-motolimod-with-pegylated-liposomal-doxorubicin-in-recurrent-or-persistent-ovarian-cancer-a-gynecologic-oncology-group-partners-study
#15
B J Monk, M F Brady, C Aghajanian, H A Lankes, T Rizack, J Leach, J M Fowler, R Higgins, P Hanjani, M Morgan, R Edwards, W Bradley, T Kolevska, P Foukas, E Swisher, K S Anderson, R Gottardo, J K Bryan, M Newkirk, K L Manjarrez, R S Mannel, R M Hershberg, G Coukos
Background: A phase 2, randomized, placebo-controlled trial was conducted in women with recurrent epithelial ovarian carcinoma to evaluate the efficacy and safety of motolimod-a Toll-like receptor 8 (TLR8) agonist that stimulates robust innate immune responses-combined with pegylated liposomal doxorubicin (PLD), a chemotherapeutic that induces immunogenic cell death. Patients and methods: Women with ovarian, fallopian tube, or primary peritoneal carcinoma were randomized 1 : 1 to receive PLD in combination with blinded motolimod or placebo...
February 21, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28323373/the-impact-of-mental-illness-on-uptake-of-genetic-counseling-for-hereditary-breast-cancer-and-ovarian-cancer-in-a-multiethnic-cohort-of-breast-cancer-patients
#16
Marra G Ackerman, Peter A Shapiro, Austin Coe, Meghna S Trivedi, Katherine D Crew
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review...
March 21, 2017: Breast Journal
https://www.readbyqxmd.com/read/28314837/risk-reducing-strategies-for-ovarian-cancer-in-brca-mutation-carriers-a-balancing-act
#17
REVIEW
Roi Tschernichovsky, Annekathryn Goodman
OBJECTIVE: The objective of this study was to review the role of bilateral salpingo-oophorectomy in BRCA mutation (mBRCA) carriers and alternative interventions in risk reduction of ovarian cancer (OC). MATERIALS AND METHODS: A systematic review using PubMed, MEDLINE, EMBASE, and the Cochrane library was conducted to identify studies of different strategies to prevent OC in mBRCA carriers, including bilateral salpingo-oophorectomy, prophylactic salpingectomy with delayed oophorectomy, intensive surveillance, and chemoprevention...
April 2017: Oncologist
https://www.readbyqxmd.com/read/28314588/risk-of-breast-cancer-after-a-diagnosis-of-ovarian-cancer-in-brca-mutation-carriers-is-preventive-mastectomy-warranted
#18
Jacob McGee, Vasily Giannakeas, Beth Karlan, Jan Lubinski, Jacek Gronwald, Barry Rosen, John McLaughlin, Harvey Risch, Ping Sun, William D Foulkes, Susan L Neuhausen, Joanne Kotsopoulos, Steven A Narod
OBJECTIVE: Preventive breast surgery and MRI screening are offered to unaffected BRCA mutation carriers. The clinical benefit of these two modalities has not been evaluated among mutation carriers with a history of ovarian cancer. Thus, we sought to determine whether or not BRCA mutation carriers with ovarian cancer would benefit from preventive mastectomy or from MRI screening. METHODS: First, the annual mortality rate for ovarian cancer patients was estimated for a cohort of 178 BRCA mutation carriers from Ontario, Canada...
March 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28277317/brca1-2-germline-missense-mutations-a-systematic-review
#19
Giovanni Corso, Irene Feroce, Mattia Intra, Antonio Toesca, Francesca Magnoni, Manuela Sargenti, Paola Naninato, Pietro Caldarella, Gianmatteo Pagani, Annarita Vento, Paolo Veronesi, Bernardo Bonanni, Viviana Galimberti
Hereditary breast and ovarian cancer is an inherited syndrome associated with BRCA1/2 germline defects. The identified mutations are classified as missense, large deletion, insertion, nonsense and splice-site variants with a deleterious impact on BRCA1/2 function. Part of these forms the well-documented truncating mutations, and missense variants represent a clinical dilemma as the pathogenic role is yet to be clearly shown. In this systematic review, we collected these missense variations with a documented deleterious function...
March 8, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28258387/-brca-diagnostics-of-ovarian-cancer-molecular-tumor-testing-since-the-introduction-of-parp-inhibitor-therapy
#20
H Löser, C Heydt, R Büttner, B Markiefka
Approximately 9000 women are diagnosed with ovarian cancer in Germany each year. The most common subtype is high-grade serous ovarian cancer. A relevant proportion of these tumors are associated with mutations in the breast and ovarian cancer susceptibility genes (BRCA1 and BRCA2) representing highly penetrant tumor suppressor genes with autosomal inheritance and play a crucial role in DNA repair mechanisms. These patients have predominantly germline mutations and less frequently have somatic BRCA mutations...
March 3, 2017: Der Pathologe
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