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3. Model consent clauses for rare disease research

Author

Nguyen, Minh Thu, Goldblatt, Jack, Isasi, Rosario, Jagut, Marlene, Jonker, Anneliene Hechtelt, Kautmann, Petra, Ouillade, Laetitia, Molnar-Gabor, Fruszina, Shabani, Mahsa, Sid, Eric, Tasse, Anne Marie, Wong-Rieger, Durhane, Knoppers, Bartha Maria, Kaufmann, Petra, Knoppers, Bartha, and Tasse, Anne-Marie

Subjects
Biomedical Research, Health (social science), Emerging technologies, Internet privacy, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Harmonization, Consent Forms, Research ethics, 03 medical and health sciences, Informed consent, Medicine and Health Sciences, Humans, Law and Political Science, REIDENTIFICATION, 030304 developmental biology, lcsh:R723-726, PRIVACY, 0303 health sciences, Consent clauses, INFORMED-CONSENT, business.industry, Health Policy, 030305 genetics & heredity, humanities, Rare diseases, Data sharing, Issues, ethics and legal aspects, Philosophy of medicine, lcsh:Medical philosophy. Medical ethics, business, Return of results, Psychology, Core consent elements, Research Article, Rare disease
Abstract

Background Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants’ overall protection. Methods A global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world. Existing consent forms and notices of consent were analyzed and classified under different consent themes, which were used as background to develop the model consent clauses. Results The IRDiRC-GA4GH MCC Task Force met in September 2018, to discuss and design model consent clauses. Based on analyzed consent forms, they listed generic core elements and designed the following rare disease research specific core elements; Rare Disease Research Introductory Clause, Familial Participation, Audio/Visual Imaging, Collecting, storing, sharing of rare disease data, Recontact for matching, Data Linkage, Return of Results to Family Members, Incapacity/Death, and Benefits. Conclusion The model consent clauses presented in this article have been drafted to highlight consent elements that bear in mind the trends in rare disease research, while providing a tool to help foster harmonization and collaborative efforts. Electronic supplementary material The online version of this article (10.1186/s12910-019-0390-x) contains supplementary material, which is available to authorized users.

Published
2019

4. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Author

Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hulya, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, van El, Carla, Howard, Heidi, Melegh, Bela, Perola, Markus, Peterlin, Borut, Rogowski, Wolf, Soller, Maria, Stefansdottir, Vigdis, de Wert, Guido, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Şehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology, School of Medicine, Department of Medical Genetics, Human genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Department of Forensic Medicine, University of Helsinki, University Management, Doctoral Programme in Biomedicine, Doctoral Programme in Population Health, PaleOmics Laboratory, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Ana Bilim Dalı., Temel, Sehime G., AAG-8385-2021, Université de Lausanne (UNIL), Vrije Universiteit Amsterdam [Amsterdam] (VU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Uppsala Universitet [Uppsala], University Medical Center [Utrecht], Cardiff Metropolitan University, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Guy's and St Thomas' Hospital [London], Universitätsklinikum Frankfurt, Istanbul University, University of Southampton, Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, King‘s College London, Queen Mary University of London (QMUL), University of Belgrade [Belgrade], St George's, University of London, McGill University = Université McGill [Montréal, Canada], Universita degli Studi di Padova, University of Amsterdam [Amsterdam] (UvA), Cardiology, and ACS - Heart failure & arrhythmias

Subjects
Collaborative care team, Biochemistry & molecular biology, [SDV]Life Sciences [q-bio], Sudden Cardiac Death, Sports, Athletes, VARIANTS, GUIDELINES, Sudden cardiac death, Biochemistry and molecular biology, Genetics and heredity, HARMONIZATION, Organization and management, Pathology, Informed consent, Cardiac muscle, Genetics (clinical), Cause of death, Priority journal, 0303 health sciences, DIAGNOSTIC YIELD, medicine.diagnostic_test, Expert consensus statement, Molecular autopsy, Diagnostic yield, Young, Association, Guidelines, Harmonization, Prevention, Nationwide, Variants, 030305 genetics & heredity, Medical jurisprudence, Genetics & heredity, Pericardial disease, 1184 Genetics, developmental biology, physiology, ASSOCIATION, Health policy, 3. Good health, Death, Policy, Medical genetics, Autopsy, Medical Genetics, Cardiac, Human, medicine.medical_specialty, Heart Diseases, education, Family history, MEDLINE, Context (language use), Heart disease, Article, 03 medical and health sciences, Health care policy, Genetic screening, medicine, Genetics, Humans, European Union, Genetic Testing, Mortality, EXPERT CONSENSUS STATEMENT, Medicinsk genetik, Genetic testing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genetic services, business.industry, Public health, Myocardium, DNA, NATIONWIDE, medicine.disease, Sudden, Myocardial disease, PREVENTION, Medical society, Death, Sudden, Cardiac, Gene identification, MOLECULAR AUTOPSY, Family medicine, YOUNG, 3111 Biomedicine, Medicolegal aspect, business
Abstract

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation., NA

Published
2019
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5. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Author

Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Fellmann, Florence; van El, Carla G.; Charron, Philippe; Michaud, Katarzyna; Howard, Heidi C.; Boers, Sarah N.; Clarke, Angus J.; Duguet, Anne-Marie; Forzano, Francesca; Kauferstein, Silke; Lucassen, Anneke; Mendes, Alvaro; Patch, Christine; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Sheppard, Mary N.; Tasse, Anne-Marie; Temel, Şehime G.; Sajantila, Antti; Basso, Cristina; Wilde, Arthur A. M.; Cornel, Martina C.; Benjamin, Caroline; Borry, Pascal; Clarke, Angus; Cordier, Christophe; Cornel, Martina; European Society of Human Genetics; European Council of Legal Medicine; European Society of Cardiology working group; European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart); Association for European Cardiovascular Pathology, School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Fellmann, Florence; van El, Carla G.; Charron, Philippe; Michaud, Katarzyna; Howard, Heidi C.; Boers, Sarah N.; Clarke, Angus J.; Duguet, Anne-Marie; Forzano, Francesca; Kauferstein, Silke; Lucassen, Anneke; Mendes, Alvaro; Patch, Christine; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Sheppard, Mary N.; Tasse, Anne-Marie; Temel, Şehime G.; Sajantila, Antti; Basso, Cristina; Wilde, Arthur A. M.; Cornel, Martina C.; Benjamin, Caroline; Borry, Pascal; Clarke, Angus; Cordier, Christophe; Cornel, Martina; European Society of Human Genetics; European Council of Legal Medicine; European Society of Cardiology working group; European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart); Association for European Cardiovascular Pathology, School of Medicine, and Department of Medical Genetics

Abstract

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation., NA

Published
2019

6. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., and Scherer, Stephen W.

Subjects
Neuroscience(all), Next-generation sequencing, Journal Article, Autism spectrum disorders
Abstract

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.

Published
2017

7. Simplifying research access to genomics and health data with Library Cards

Author

Cabili, Moran N., primary, Carey, Knox, additional, Dyke, Stephanie O. M., additional, Brookes, Anthony J., additional, Fiume, Marc, additional, Jeanson, Francis, additional, Kerry, Giselle, additional, Lash, Alex, additional, Sofia, Heidi, additional, Spalding, Dylan, additional, Tasse, Anne-Marie, additional, Varma, Susheel, additional, and Pandya, Ravi, additional

Published
2018
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8. Epigenome-based cancer risk prediction: Rationale, opportunities and challenges

Author

Widschwendter, M, Jones, A, Evans, I, Reisel, D, Dillner, J, Sundström, K, Steyerberg, E, Vergouwe, Y, Wegwarth, O, Rebitschek, F, Siebert, U, Sroczynski, G, De Beaufort, I, Bolt, I, Cibula, D, Zikan, M, Bjørge, L, Colombo, N, Harbeck, N, Dudbridge, F, Tasse, A, Knoppers, B, Joly, Y, Teschendorff, A, Pashayan, N, Widschwendter, Martin, Jones, Allison, Evans, Iona, Reisel, Daniel, Dillner, Joakim, Sundström, Karin, Steyerberg, Ewout W., Vergouwe, Yvonne, Wegwarth, Odette, Rebitschek, Felix G., Siebert, Uwe, Sroczynski, Gaby, De Beaufort, Inez D., Bolt, Ineke, Cibula, David, Zikan, Michal, Bjørge, Line, Colombo, Nicoletta, Harbeck, Nadia, Dudbridge, Frank, Tasse, Anne-Marie, Knoppers, Bartha M., Joly, Yann, Teschendorff, Andrew E., Pashayan, Nora, Widschwendter, M, Jones, A, Evans, I, Reisel, D, Dillner, J, Sundström, K, Steyerberg, E, Vergouwe, Y, Wegwarth, O, Rebitschek, F, Siebert, U, Sroczynski, G, De Beaufort, I, Bolt, I, Cibula, D, Zikan, M, Bjørge, L, Colombo, N, Harbeck, N, Dudbridge, F, Tasse, A, Knoppers, B, Joly, Y, Teschendorff, A, Pashayan, N, Widschwendter, Martin, Jones, Allison, Evans, Iona, Reisel, Daniel, Dillner, Joakim, Sundström, Karin, Steyerberg, Ewout W., Vergouwe, Yvonne, Wegwarth, Odette, Rebitschek, Felix G., Siebert, Uwe, Sroczynski, Gaby, De Beaufort, Inez D., Bolt, Ineke, Cibula, David, Zikan, Michal, Bjørge, Line, Colombo, Nicoletta, Harbeck, Nadia, Dudbridge, Frank, Tasse, Anne-Marie, Knoppers, Bartha M., Joly, Yann, Teschendorff, Andrew E., and Pashayan, Nora

Abstract

The incidence of cancer is continuing to rise and risk-tailored early diagnostic and/or primary prevention strategies are urgently required. The ideal risk-predictive test should: integrate the effects of both genetic and nongenetic factors and aim to capture these effects using an approach that is both biologically stable and technically reproducible; derive a score from easily accessible biological samples that acts as a surrogate for the organ in question; and enable the effectiveness of risk-reducing measures to be monitored. Substantial evidence has accumulated suggesting that the epigenome and, in particular, DNA methylation-based tests meet all of these requirements. However, the development and implementation of DNA methylation-based risk-prediction tests poses considerable challenges. In particular, the cell type specificity of DNA methylation and the extensive cellular heterogeneity of the easily accessible surrogate cells that might contain information relevant to less accessible tissues necessitates the use of novel methods in order to account for these confounding issues. Furthermore, the engagement of the scientific community with health-care professionals, policymakers and the public is required in order to identify and address the organizational, ethical, legal, social and economic challenges associated with the routine use of epigenetic testing.

Published
2018

9. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

C Yuen, Ryan K, primary, Merico, Daniele, additional, Bookman, Matt, additional, L Howe, Jennifer, additional, Thiruvahindrapuram, Bhooma, additional, Patel, Rohan V, additional, Whitney, Joe, additional, Deflaux, Nicole, additional, Bingham, Jonathan, additional, Wang, Zhuozhi, additional, Pellecchia, Giovanna, additional, Buchanan, Janet A, additional, Walker, Susan, additional, Marshall, Christian R, additional, Uddin, Mohammed, additional, Zarrei, Mehdi, additional, Deneault, Eric, additional, D'Abate, Lia, additional, Chan, Ada J S, additional, Koyanagi, Stephanie, additional, Paton, Tara, additional, Pereira, Sergio L, additional, Hoang, Ny, additional, Engchuan, Worrawat, additional, Higginbotham, Edward J, additional, Ho, Karen, additional, Lamoureux, Sylvia, additional, Li, Weili, additional, MacDonald, Jeffrey R, additional, Nalpathamkalam, Thomas, additional, Sung, Wilson W L, additional, Tsoi, Fiona J, additional, Wei, John, additional, Xu, Lizhen, additional, Tasse, Anne-Marie, additional, Kirby, Emily, additional, Van Etten, William, additional, Twigger, Simon, additional, Roberts, Wendy, additional, Drmic, Irene, additional, Jilderda, Sanne, additional, Modi, Bonnie MacKinnon, additional, Kellam, Barbara, additional, Szego, Michael, additional, Cytrynbaum, Cheryl, additional, Weksberg, Rosanna, additional, Zwaigenbaum, Lonnie, additional, Woodbury-Smith, Marc, additional, Brian, Jessica, additional, Senman, Lili, additional, Iaboni, Alana, additional, Doyle-Thomas, Krissy, additional, Thompson, Ann, additional, Chrysler, Christina, additional, Leef, Jonathan, additional, Savion-Lemieux, Tal, additional, Smith, Isabel M, additional, Liu, Xudong, additional, Nicolson, Rob, additional, Seifer, Vicki, additional, Fedele, Angie, additional, Cook, Edwin H, additional, Dager, Stephen, additional, Estes, Annette, additional, Gallagher, Louise, additional, Malow, Beth A, additional, Parr, Jeremy R, additional, Spence, Sarah J, additional, Vorstman, Jacob, additional, Frey, Brendan J, additional, Robinson, James T, additional, Strug, Lisa J, additional, Fernandez, Bridget A, additional, Elsabbagh, Mayada, additional, Carter, Melissa T, additional, Hallmayer, Joachim, additional, Knoppers, Bartha M, additional, Anagnostou, Evdokia, additional, Szatmari, Peter, additional, Ring, Robert H, additional, Glazer, David, additional, Pletcher, Mathew T, additional, and Scherer, Stephen W, additional

Published
2017
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10. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Author

Onderzoek, Brain, Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., Scherer, Stephen W., Onderzoek, Brain, Yuen, Ryan K C, Merico, Daniele, Bookman, Matt, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Patel, Rohan V., Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R., Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J., Wei, John, Xu, Lizhen, Tasse, Anne Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie Mackinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M., Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H., Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A., Parr, Jeremy R., Spence, Sarah J., Vorstman, Jacob, Frey, Brendan J., Robinson, James T., Strug, Lisa J., Fernandez, Bridget A., Elsabbagh, Mayada, Carter, Melissa T., Hallmayer, Joachim, Knoppers, Bartha M., Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H., Glazer, David, Pletcher, Mathew T., and Scherer, Stephen W.

Published
2017

12. Epigenome-based cancer risk prediction: rationale, opportunities and challenges

Author

Widschwendter, Martin, Jones, Allison, Evans, Iona, Reisel, Daniel, Dillner, Joakim, Sundström, Karin, Steyerberg, Ewout W., Vergouwe, Yvonne, Wegwarth, Odette, Rebitschek, Felix G., Siebert, Uwe, Sroczynski, Gaby, de Beaufort, Inez D., Bolt, Ineke, Cibula, David, Zikan, Michal, Bjørge, Line, Colombo, Nicoletta, Harbeck, Nadia, Dudbridge, Frank, Tasse, Anne-Marie, Knoppers, Bartha M., Joly, Yann, Teschendorff, Andrew E., and Pashayan, Nora

Abstract

Epigenetic misprogramming is an essential component of cancer development.DNA methylation-based risk-prediction models provide novel opportunities for risk-tailored screening and prevention of cancer.Multidisciplinary collaborative research is needed to overcome the scientific challenges associated with the discovery of DNA methylation markers for risk-prediction, such as identifying surrogate tissues and developing novel analytical methods.Implementation of epigenome-based risk-tailored screening and prevention programmes requires several ethical, legal, social, organizational and economic challenges to be addressed in addition to the engagement of policymakers, health-care professionals and the public.

Published
2018
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