Zobrazeno 1 - 10
of 381
pro vyhledávání: '"D. Gareth Evans"'
Autor:
Lyndsey Highton, D. Gareth Evans, Ashu Gandhi, James Harvey, Sacha J Howell, Fiona Lalloo, John Murphy, Emma R. Woodward, Anthony Howell, Tara Clancy, Lester Barr, Elaine F. Harkness, Julie Wisely
Publikováno v:
Breast, Vol 60, Iss, Pp 45-52 (2021)
The Breast : Official Journal of the European Society of Mastology
Evans, D G, Gandhi, A, Wisely, J, Clancy, T, Woodward, E, Harvey, J, Highton, L, Murphy, J, Barr, L, Howell, S, Lalloo, F, Harkness, E & Howell, T 2021, ' Uptake of bilateral-risk-reducing-mastectomy : Prospective analysis of 7195 women at high-risk of breast cancer ', The Breast, vol. 60, pp. 45-52 . https://doi.org/10.1016/j.breast.2021.08.015
The Breast : Official Journal of the European Society of Mastology
Evans, D G, Gandhi, A, Wisely, J, Clancy, T, Woodward, E, Harvey, J, Highton, L, Murphy, J, Barr, L, Howell, S, Lalloo, F, Harkness, E & Howell, T 2021, ' Uptake of bilateral-risk-reducing-mastectomy : Prospective analysis of 7195 women at high-risk of breast cancer ', The Breast, vol. 60, pp. 45-52 . https://doi.org/10.1016/j.breast.2021.08.015
Background Bilateral-Risk-Reducing-Mastectomy-(BRRM) is well described in BRCA1/2 pathogenic variant carriers. However, little is known about the relative uptake, time trends or factors influencing uptake in those at increased breast cancer risk not
Autor:
Stephanie Amico, Nicola Flaum, Olivia Smith, Emma J Crosbie, Richard J. Edmondson, D. Gareth Evans, Elke M van Veen, William G. Newman, Miriam J. Smith
Publikováno v:
Flaum, N, van Veen, E M, Smith, O, Amico, S, Newman, W, Crosbie, E, Edmondson, R, Smith, M J & Evans, D G 2022, ' Dominant-negative pathogenic variant BRIP1 c.1045G >C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study ', Clin Genet, vol. 101, no. 1, pp. 48-54 . https://doi.org/10.1111/cge.14068
BRIP1 is a moderate susceptibility epithelial ovarian cancer (EOC) gene. Having identified the BRIP1 c.1045G>C missense variant in a number of families with EOC, we aimed to investigate the frequency of this and BRIP1.2392C>T pathogenic variant in pa
Autor:
Anthony Howell, Eleanor Roberts, William G. Newman, Adam R. Brentnall, Helen Byers, Jack Cuzick, Elaine F. Harkness, Elke M van Veen, D. Gareth Evans, Sacha J Howell
Publikováno v:
International Journal of Cancer. 150:73-79
Polygenic risk scores (PRS) for disease risk stratification show great promise for application in general populations, but most are based on data from individuals of white European origin. We assessed two well validated PRS (SNP18, SNP143) in the Pre
Autor:
AeRang Kim, Chetan Bettegowda, Dimitrios Mathios, Clemens O. Hanemann, D. Gareth Evans, Meena Upadhayaya
Publikováno v:
Neurology
ObjectiveBecause clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether genotype-phenotype correlations are useful in clinical trials in NF1 and NF2.MethodsT
Autor:
Elaine F. Harkness, Sacha J Howell, Fiona Lalloo, Jamie M Ellingford, Miriam J. Smith, Anthony Howell, D. Gareth Evans, Helene Schlech, William G. Newman, George J Burghel, Claire Forde, Helen Byers, Naomi L. Bowers, Elke M van Veen, Emma R. Woodward, Andrew J Wallace
Publikováno v:
Genetics in Medicine
PURPOSE To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and ovarian cancer, and PALB2_PGV associated breast cancer pathology. METHODS Outcomes of ger
Autor:
Marco Nievo, Rianne Oostenbrink, Guenter Heimann, Britt A.E. Dhaenens, Cornelia Potratz, Eric Legius, Scott R. Plotkin, Annette Bakker, D. Gareth Evans, Rosalie E. Ferner, Pierre Wolkenstein
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 29(11), 1625-1633. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00892-z⟩
Dhaenens, B A E, Ferner, R E, Bakker, A, Nievo, M, Evans, D G, Wolkenstein, P, Potratz, C, Plotkin, S R, Heimann, G, Legius, E & Oostenbrink, R 2021, ' Identifying challenges in Neurofibromatosis: a modified Delphi procedure ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00892-z
European Journal of Human Genetics, 29(11), 1625-1633. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00892-z⟩
Dhaenens, B A E, Ferner, R E, Bakker, A, Nievo, M, Evans, D G, Wolkenstein, P, Potratz, C, Plotkin, S R, Heimann, G, Legius, E & Oostenbrink, R 2021, ' Identifying challenges in Neurofibromatosis: a modified Delphi procedure ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00892-z
Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are rare conditions with pronounced variability of clinical expression. We aimed to reach consensus on the most important manifestations meriting the development
Autor:
Päivi Auvinen, Hoda Anton-Culver, Stig E. Bojesen, Gad Rennert, Christos Petridis, Taru A. Muranen, Lukas Schwentner, Jenny Chang-Claude, Chen-Yang Shen, Melissa A. Troester, Sara Y. Brucker, Miriam Dwek, Jingmei Li, Nadia Obi, Montserrat Garcia-Closas, Soo Hwang Teo, Pascal Guénel, Hidemi Ito, Sabine Behrens, Rulla M. Tamimi, Melissa C. Southey, Michelle D. Holmes, Christopher A. Haiman, Henrik Flyger, Roger L. Milne, Per Hall, Jyh-Cherng Yu, Thomas U. Ahearn, William G. Newman, D. Gareth Evans, Dong-Young Noh, Qin Wang, Robert Winqvist, Tjoung-Won Park-Simon, Angela Cox, Dimitrios Mavroudis, Federico Canzian, Celine M. Vachon, Annelie Augustinsson, Shivaani Mariapun, Keitaro Matsuo, Mia M. Gaudet, Anna Jakubowska, Loic Le Marchand, Rob A. E. M. Tollenaar, Paul D.P. Pharoah, Mikael Hartman, Jane Heyworth, Alison M. Dunning, Daniele Campa, Keun-Young Yoo, Anna Morra, Sileny Han, Anna H. Wu, David J. Hunter, Laura E. Beane Freeman, Mehdi Manoochehri, Volker Arndt, Elinor J. Sawyer, Peter A. Fasching, Alicja Wolk, Xiao-Ou Shu, José A. García-Sáenz, Hermann Brenner, Børge G. Nordestgaard, Pooja Middha Kapoor, Diether Lambrechts, Kamila Czene, Marjanka K. Schmidt, Nadege Presneau, Stephen J. Chanock, Mervi Grip, Ignacio Briceño, Stella Koutros, Nicola J. Camp, Kathleen M. Egan, Wei Zheng, Reiner Hoppe, Simon S. Cross, James V. Lacey, Manjeet K. Bolla, Cari M. Kitahara, Annika Lindblom, Carl Blomqvist, William J. Tapper, Diana Torres, Jan Lubinski, Milena Jakimovska, Vessela N. Kristensen, Jose E. Castelao, Graham G. Giles, Andrew F. Olshan, John L. Hopper, A. Heather Eliassen, Valerie Rhenius, Christopher G. Scott, Agnes Jager, Thilo Dörk, Justin A. Williams, Ian Tomlinson, Emmanouil Saloustros, Ji Yeob Choi, Dijana Plaseska-Karanfilska, Thérèse Truong, Audrey Y. Jung, Daehee Kang, Argyrios Ziogas, Peter Kraft, Arto Mannermaa, Rudolf Kaaks, Heiko Becher, Wolfgang Janni, Niclas Håkansson, Steven N. Hart, Xiaohong R. Yang, Håkan Olsson, Fergus J. Couch, Renske Keeman, Ute Hamann, Atocha Romero, Daniel O. Stram, Andreas Schneeweiss, Susan M. Gapstur, Michael Lush, Diana Eccles, Sara Margolin, Hedy S. Rennert, Muhammad Usman Rashid, Mitul Shah, Matthias W. Beckmann, Sophia S. Wang, Douglas F. Easton, Manuela Gago-Dominguez, Christine L. Clarke
Publikováno v:
Cancer Epidemiol Biomarkers Prev
Cancer Epidemiology, Biomarkers and Prevention, 30(4), 623-642. AMER ASSOC CANCER RESEARCH
Cancer Epidemiology Biomarkers and Prevention, 30(4), 623-642. American Association for Cancer Research Inc.
Cancer Epidemiology Biomarkers & Prevention
Cancer Epidemiology, Biomarkers and Prevention, 30(4), 623-642. AMER ASSOC CANCER RESEARCH
Cancer Epidemiology Biomarkers and Prevention, 30(4), 623-642. American Association for Cancer Research Inc.
Cancer Epidemiology Biomarkers & Prevention
Background: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype. Methods: We analyzed data for 121,435 women diagnosed with breast cancer from 67 studies in the Breast Cancer Assoc
Autor:
Stephanie L Greville-Haygate, Emma R. Woodward, D. Gareth Evans, Andrew J Wallace, Helen Byers, Jamie M Ellingford, Fiona Lalloo, Anthony Howell, George J Burghel, Sasha J Howell, Miriam J. Smith, Elaine F. Harkness, William G. Newman, Naomi L. Bowers, Elke M van Veen, Diana Eccles, Sarah J Evans, Marta Pereira
Publikováno v:
Journal of Medical Genetics
BackgroundWhile the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predispos
Autor:
V. Wendy Setiawan, Ana Osorio, Liv Cecilie Vestrheim Thomsen, Francesca Gensini, Harsha Pathak, Barbara Wappenschmidt, Ingo B. Runnebaum, Javier Benitez, Rita K. Schmutzler, Jeffrey N. Weitzel, Yin Ling Woo, Kenneth Offit, Anthony N. Karnezis, Eitan Friedman, Jacques Simard, James M. Flanagan, Pedro Pérez-Segura, Siranoush Manoukian, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Graham G. Giles, Usha Menon, Ava Kwong, Anna H. Wu, Thomas Hansen, Cristina Rodríguez-Antona, Maria A. Caligo, Argyrios Ziogas, Allison DePersia, Anna P. Sokolenko, Clarice R. Weinberg, Hoda Anton-Culver, Digna R. Velez Edwards, Jennifer B. Permuth, Patricia A. Ganz, Ana Vega, Keitaro Matsuo, Heli Nevanlinna, Frances Wang, Natalia Antonenkova, Claudine Isaacs, Conxi Lázaro, Melissa C. Larson, Henriette Roed Nielsen, Byoung-Gie Kim, Andreas du Bois, Dale P. Sandler, Anna Jakubowska, Paul D.P. Pharoah, Jenny Lester, Paolo Radice, Natalia Bogdanova, Lambertus A. Kiemeney, Mary Anne Rossing, Thilo Dörk, Ruea-Yea Huang, Judy Garber, Taymaa May, Diana Eccles, Mary Beth Terry, Jenny Chang-Claude, Jeffrey R. Marks, Dominique Stoppa-Lyonnet, Heather Eliassen, Douglas A. Levine, Phuong L. Mai, Gerasimos Aravantinos, Hui Cai, Britton Trabert, Amanda Black, Noura Mebirouk, Robin de Putter, Rayna K. Matsuno, Ralf Bützow, Joanne Ngeow Yuen Yie, James D. Brenton, Nadine Tung, Drakoulis Yannoukakos, Jonathan Tyrer, L Yan, Yen Y. Tan, Ian Komenaka, Simona Agata, Honglin Song, Tanja Pejovic, Marjorie J. Riggan, Antonis C. Antoniou, Katja K.H. Aben, Goska Leslie, Eric A. Ross, Estrid Høgdall, Kang Shan, Holly R. Harris, Eleanor Davies, Liene Nikitina-Zake, Florian Heitz, Stephen J. Chanock, Matthew Jones, Beth Y. Karlan, Matthias W. Beckmann, Penelope M. Webb, John L. Hopper, Peter A. Fasching, Jacek Gronwald, kConFab Investigators, Ana Peixoto, Joellen M. Schildkraut, Renée T. Fortner, Susan L. Neuhausen, Daehee Kang, Anthony J. Swerdlow, Lesley McGuffog, Marco Montagna, Paolo Peterlongo, Daniel R. Barnes, Marina Bermisheva, Alicja Wolk, Yuan Chun Ding, Marc Tischkowitz, Gord Glendon, Elza Khusnutdinova, Julie M. Cunningham, Saundra S. Buys, Albina N. Minlikeeva, Jennifer A. Doherty, Annemieke H. van der Hout, Austin Miller, Fergus J. Couch, Fabienne Lesueur, Peter Devilee, Kristin K. Zorn, Daniel Barrowdale, Christian F. Singer, Line Bjørge, Åke Borg, Diether Lambrechts, Shelley S. Tworoger, Allan Jensen, Ute Hamann, Douglas F. Easton, Bernardo Bonanni, Alvaro N.A. Monteiro, Johanna Rantala, Marc T. Goodman, Ellen Valen, Wei Zheng, Thomas A. Sellers, Marcus Q. Bernardini, Alice S. Whittemore, Kunle Odunsi, Inge Søkilde Pedersen, Laura Papi, Mads Thomassen, Allison W. Kurian, Emily White, Penny Soucy, D. Gareth Evans, Lenka Foretova, Kathryn L. Terry, Ruth C. Travis, Claus Høgdall, Hebon Investigators, Darya Prokofyeva, Stacey J. Winham, Yoke-Eng Chiew, Eileen Dareng, Jan Lubinski, Elizabeth Munro, Oskar T. Johannsson, Linda E. Kelemen, Kexin Chen, Xin Yang, Manuel R. Teixeira, Anna M. Piskorz, Edith Olah, Helen Steed, Beth N. Peshkin, Georgia Chenevix-Trench, Andrew K. Godwin, Pamela J. Thompson, Chad D. Huff, Rosa B. Barkardottir, Muriel A. Adank, Mikael Hartman, Linda J. Titus, Weiva Sieh, Simon A. Gayther, Peter J. Hulick, Michael T. Parsons, Elisa V. Bandera, Amanda E. Toland, Miguel de la Hoya, Orland Diez, Alicia Beeghly-Fadiel, Rebecca Sutphen, Francesmary Modugno, Judith Balmaña, Christoph Engel, Harvey A. Risch, Elizabeth J. van Rensburg, Michael Jones, Rikki Cannioto, Michelle A.T. Hildebrandt, Soo Hwang Teo, Fanny Dao, Susan J. Ramus, Sarah Colanna, Kathleen Claes, David G. Huntsman, Siel Olbrecht, Esther M. John, Robert A. Vierkant, Wendy K. Chung, Ellen L. Goode, Olufunmilayo I. Olopade, Evgeny N. Imyanitov, Joe Dennis, Andrew Berchuck, Banu Arun, Darcy L. Thull, Lian Li, Celeste Leigh Pearce, Sue K. Park, Susan M. Domchek, Agnieszka Budzilowska, Håkan Olsson, Susanne K. Kjaer, Mark H. Greene, Katia M. Zavaglia, Jolanta Kupryjanczyk, Nicolas Wentzensen, Karen H. Lu, Hayley Cassingham, Christopher A. Haiman, Eric Hahnen, Els Van Nieuwenhuysen, Katherine L. Nathanson, Anna deFazio, Ian G. Campbell, Paul A. James, Sara H. Olson, Eva Machackova, Anne M. van Altena, Irene L. Andrulis, Linda S. Cook, Matthias Dürst, Mary B. Daly, John R. McLaughlin, Niclas Håkansson, Jingmei Li, Diana Torres, Iain A. McNeish, Jennifer T. Loud, Roger L. Milne, Marta Santamariña, Annelie Augustinsson, Nhu D. Le, Kate Lawrenson, Kirsten B. Moysich
Funder: Funding details are provided in the Supplementary Material
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9aaa984ffc2cdcd6cfc6ec386fa3fa2
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers
Autor:
Julie Wissely, Elaine F. Harkness, D. Gareth Evans, Richard J. Edmondson, Anthony Howell, Ruta Marcinkute, Ashu Gandhi, John D. Murphy, Cathrine Holland, Emma R. Woodward, Lester Barr, Richard D Clayton, James Harvey, Emma J Crosbie, Lindsay Highton, Fiona Lalloo, Sacha J Howell
Publikováno v:
Marcinkute, R, Woodward, E, Gandhi, A, Howell, S, Crosbie, E, Wisely, J, Harvey, J, Highton, L, Murphy, J, Holland, C, Edmondson, R, Clayton, R D, Barr, L, Harkness, E, Howell, T, Lalloo, F & Evans, D G 2022, ' Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers ', Journal of Medical Genetics, vol. 59, no. 2, pp. 133-140 . https://doi.org/10.1136/jmedgenet-2020-107356
BackgroundWomen testing positive for BRCA1/2 pathogenic variants have high lifetime risks of breast cancer (BC) and ovarian cancer. The effectiveness of risk reducing surgery (RRS) has been demonstrated in numerous previous studies. We evaluated long