Amanda B. Spurdle
Active 1996–2025
- 168
- Papers
- 21,820
- Citations
- 86
- h-index
- 159
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology47.5%
- Medicine46.9%
- Neuroscience1.3%
- Immunology and Microbiology1.3%
- Pharmacology, Toxicology and Pharmaceutics0.7%
- Computer Science0.5%
- Other1.8%
Topics
- BRCA gene mutations in cancer8.1%
- Genetic factors in colorectal cancer5.2%
- Genetic Associations and Epidemiology4.8%
- Cancer Genomics and Diagnostics4.4%
- Genomics and Rare Diseases3.5%
- Endometrial and Cervical Cancer Treatments2.9%
- Other71.1%
Coauthors
- Michael T. Parsons27
- John L. Hopper22
- Fergus J. Couch20
- Georgia Chenevix‐Trench20
- Melissa C. Southey20
- Tracy A. O’Mara19
- David E. Goldgar18
- Cristina Fortuño17
- Miguel de la Hoya17
- Tina Pesaran17
- Penelope M. Webb16
- Douglas F. Easton15
- Joe Dennis15
- Graham G. Giles14
- Sue Healey14
- Sean V. Tavtigian13
- Thilo Dörk13
- Daniel D. Buchanan12
- Bryony A. Thompson11
- Logan C. Walker11
- Olga M. Sinilnikova11
- Peter A. Fasching11
- Alison M. Dunning10
- Dylan M. Glubb10
All papers
- Helicobacter pylori , Homologous-Recombination Genes, and Gastric Cancer
Authors: Yoshiaki Usui, Yukari Taniyama, Mikiko Endo, Yuriko N. Koyanagi, Yumiko Kasugai, Isao Oze, Hidemi Ito, Issei Imoto, Tsutomu Tanaka, Masahiro Tajika, Yasumasa Niwa, Yusuke Iwasaki, Tomomi Aoi, Nozomi Hakozaki, Sadaaki Takata, Kunihiko Suzuki, Chikashi Terao, Masanori Hatakeyama, Makoto Hirata, Kokichi Sugano, Teruhiko Yoshida, Yoichiro Kamatani, Hidewaki Nakagawa, Koichi Matsuda, Yoshinori Murakami, Amanda B. Spurdle, Keitaro Matsuo, Yukihide Momozawa - New England Journal of Medicine 2023 cited by 239
- Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Authors: Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper - The American Journal of Human Genetics 2023 cited by 305
- Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Authors: Shuai Li, Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper, Henriette Roed Nielsen, Andrew Lee, Xin Yang, Lesley McGuffog, Michael T. Parsons, Irene L. Andrulis, Norbert Arnold, Muriel Belotti, Åke Borg, Bruno Buecher, Saundra S. Buys, Sandrine M. Caputo, Wendy K. Chung, Chrystelle Colas, Sarah V. Colonna, Jackie Cook, Mary B. Daly, Miguel de la Hoya, Antoine de Pauw, Hélène Delhomelle, Jacqueline Eason, Christoph Engel, D. Gareth Evans, Ulrike Faust, Tanja N. Fehm, Florentia Fostira, George Fountzilas, Megan Frone, Vanesa Garcia-Barberan, Pilar Garre, Marion Gauthier-Villars, Andrea Gehrig, Gord Glendon, David E. Goldgar, Lisa Golmard, Mark H. Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horvath, Louise Izatt, Ramunas Janavicius, Yue Jiao, Esther M. John, Beth Y. Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Laugé, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret-Fourme, Hannah Musgrave, Joanne Ngeow Yuen Yie, Dieter Niederacher, Sue K. Park, Inge Sokilde Pedersen, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Muhammad U. Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamariña, Claire Saule, Gunnar Schmidt, Rita K. Schmutzler, Leigha Senter, Saba Shariff, Christian F. Singer, Melissa C. Southey, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Tan, Soo Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Ana Vega, Sebastian A. Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H. F. Weber, Drakoulis Yannoukakos, Amanda B. Spurdle, Douglas F. Easton, Georgia Chenevix-Trench and 2 more - Journal of Clinical Oncology 2022 cited by 275
- Type I and II Endometrial Cancers: Have They Different Risk Factors?
Authors: Veronica Wendy Setiawan, Hannah Yang, Malcolm C. Pike, Susan E. McCann, Herbert Yu, Yong‐Bing Xiang, Alicja Wolk, Nicolas Wentzensen, Noel S. Weiss, Penelope M. Webb, Piet A. van den Brandt, Koen Van de Vijver, Pamela J. Thompson, The Australian National Endometrial Cancer Study Group, Brian L. Strom, Amanda B. Spurdle, Robert A. Soslow, Xiao‐Ou Shu, Catherine Schairer, Carlotta Sacerdote, Thomas E. Rohan, Kim Robien, Harvey A. Risch, Fulvio Ricceri, Timothy R. Rebbeck, Radhai Rastogi, Jennifer Prescott, Silvia Polidoro, Yikyung Park, Sara H. Olson, Kirsten B. Moysich, Anthony B. Miller, Marjorie L. McCullough, Rayna K. Matsuno, Anthony M. Magliocco, Galina Lurie, Lingeng Lu, Jolanta Lissowska, Xiaolin Liang, James V. Lacey, Laurence N. Kolonel, Brian E. Henderson, Susan E. Hankinson, Niclas Håkansson, Marc T. Goodman, Mia M. Gaudet, Montserrat García‐Closas, Christine M. Friedenreich, Jo L. Freudenheim, Jennifer A. Doherty, Immaculata De Vivo, Kerry S. Courneya, Linda S. Cook, Chu Chen, James R. Cerhan, Hui Cai, Louise A. Brinton, Leslie Bernstein, Kristin E. Anderson, Hoda Anton‐Culver, Leo J. Schouten, Pamela L. Horn‐Ross - Journal of Clinical Oncology 2013 cited by 833
- Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Authors: Cristina Fortuño, Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L. Mai, Kelvin C. de Andrade, Laura D. Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul A. James, Kelly McGoldrick, Jessica L. Mester, Bryce A. Seifert, Thomas P. Slavin, Leora Witkowski, Liying Zhang, Sharon E. Plon, Amanda B. Spurdle, Sharon A. Savage, the ClinGen TP53 Variant Curation Expert Panel - Human Mutation 2020 cited by 165
- Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1 / 2 (CIMBA)
Authors: Nasim Mavaddat, Daniel Barrowdale, Irene L. Andrulis, Susan M. Domchek, Diana Eccles, Heli Nevanlinna, Susan J. Ramus, Amanda B. Spurdle, Mark E. Robson, Mark E. Sherman, Anna Marie Mulligan, Fergus J. Couch, Christoph Engel, Lesley McGuffog, Sue Healey, Olga M. Sinilnikova, Melissa C. Southey, Mary Beth Terry, David E. Goldgar, Frances P. O’Malley, Esther M. John, Ramūnas Janavičius, Laima Tihomirova, Thomas van Overeem Hansen, Finn C. Nielsen, Ana Osório, Alexandra Stavropoulou, Javier Benı́tez, Siranoush Manoukian, Bernard Peissel, Monica Barile, Sara Volorio, Barbara Pasini, Riccardo Dolcetti, Anna Laura Putignano, Laura Ottini, Paolo Radice, Ute Hamann, Muhammad Usman Rashid, Frans B.L. Hogervorst, Mieke Kriege, Rob B. van der Luijt, Susan Peock, Debra Frost, D. Gareth Evans, Carole Brewer, Lisa Walker, Mark T. Rogers, Lucy Side, Catherine Houghton, JoEllen Weaver, Andrew K. Godwin, Rita K. Schmutzler, Barbara Wappenschmidt, Alfons Meindl, Karin Kast, Norbert Arnold, Dieter Niederacher, Christian Sutter, Helmut Deißler, Doroteha Gadzicki, Sabine Preisler‐Adams, Raymonda Varon-Mateeva, Ines Schönbuchner, Heidrun Gevensleben, Dominique Stoppa‐Lyonnet, Muriel Belotti, Laure Barjhoux, Claudine Isaacs, Beth N. Peshkin, Trinidad Caldés, Miguel de la Hoya, Carmen Cañadas, Tuomas Heikkinen, Päivi Heikkilä, Kristiina Aittomäki, Ignacio Blanco, Conxi Lázaro, Joan Brunet, Bjarni A. Agnarsson, Aðalgeir Arason, Rósa B. Barkardóttir, Martine Dumont, Jacques Simard, Marco Montagna, Simona Agata, Emma D’Andrea, Max Yan, Stephen B. Fox, Timothy R. Rebbeck, Wendy S. Rubinstein, Nadine Tung, Judy E. Garber, Xianshu Wang, Zachary Fredericksen, V. Shane Pankratz, Noralane M. Lindor, Csilla I. Szabo, Kenneth Offit, Rita A. Sakr and 33 more - Cancer Epidemiology Biomarkers & Prevention 2012 cited by 668
- Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
Authors: Yukihide Momozawa, Rumi Sasai, Yoshiaki Usui, Kouya Shiraishi, Yusuke Iwasaki, Yukari Taniyama, Michael T. Parsons, Keijiro Mizukami, Yuya Sekine, Makoto Hirata, Yoichiro Kamatani, Mikiko Endo, Chihiro Inai, Sadaaki Takata, Hidemi Ito, Takashi Kohno, Koichi Matsuda, Seigo Nakamura, Kokichi Sugano, Teruhiko Yoshida, Hidewaki Nakagawa, Keitaro Matsuo, Yoshinori Murakami, Amanda B. Spurdle, Michiaki Kubo - JAMA Oncology 2022 cited by 209
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Authors: Sharon E. Plon, Diana M. Eccles, Douglas F. Easton, William D. Foulkes, Maurizio Genuardi, Marc S. Greenblatt, Frans B.L. Hogervorst, Nicoline Hoogerbrugge, Amanda B. Spurdle, Sean V. Tavtigian, for the IARC Unclassified Genetic Variants Working Group - Human Mutation 2008 cited by 913
- Clinical activity of durvalumab for patients with advanced mismatch repair-deficient and repair-proficient endometrial cancer. A nonrandomized phase 2 clinical trial
Authors: Yoland Antill, Peey‐Sei Kok, Kristy Robledo, Sonia Yip, Michelle M. Cummins, Deborah S. Smith, Amanda B. Spurdle, Elizabeth H Barnes, Yeh Chen Lee, Michael Friedländer, Sally Baron‐Hay, Catherine Shannon, Jermaine Coward, Philip Beale, Geraldine Goss, Tarek Meniawy, Janine Lombard, John Andrews, Martin R. Stockler, Linda Mileshkin - Journal for ImmunoTherapy of Cancer 2021 cited by 129
- Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases
Authors: Philip Haycock, Stephen Burgess, Aayah Nounu, Jie Zheng, George N. Okoli, Jack Bowden, Kaitlin H. Wade, Nicholas J. Timpson, David M. Evans, Peter Willeit, Abraham Aviv, Tom R. Gaunt, Gibran Hemani, Massimo Mangino, Hayley Ellis, Kathreena M. Kurian, Karen A. Pooley, Rosalind A. Eeles, Jeffrey E. Lee, Shenying Fang, Wei V. Chen, Matthew H. Law, Lisa Bowdler, Mark M. Iles, Qiong Yang, Bradford B. Worrall, Hugh S. Markus, Rayjean J. Hung, Chris Amos, Amanda B. Spurdle, Deborah J. Thompson, Tracy A. O’Mara, Brian M. Wolpin, Laufey T. Ámundadóttir, Rachael Z. Stolzenberg‐Solomon, Antonia Trichopoulou, N. Charlotte Onland‐Moret, Eiliv Lund, Eric J. Duell, Federico Canzian, Gianluca Severi, Kim Overvad, Marc J. Gunter, Rosario Tumino, Ulrika Svenson, André van Rij, Annette F. Baas, Matthew J. Bown, Nilesh J. Samani, Femke N.G. van t’Hof, Gerard Tromp, Gregory T. Jones, Helena Kuivaniemi, James R. Elmore, Mattias Johansson, James McKay, Ghislaine Scélo, Robert Carreras‐Torres, Valérie Gaborieau, Paul Brennan, Paige M. Bracci, Rachel Ε. Neale, Sara H. Olson, Steven Gallinger, Donghui Li, Gloria M. Petersen, Harvey A. Risch, Alison P. Klein, Jiali Han, Christian C. Abnet, Neal D. Freedman, Philip R. Taylor, John M. Maris, Katja K.H. Aben, Lambertus A. Kiemeney, Sita H. Vermeulen, John K. Wiencke, Kyle M. Walsh, Margaret Wrensch, Terri Rice, Clare Turnbull, Kevin Litchfield, Lavinia Paternoster, Marie Standl, Gonçalo R. Abecasis, John Paul SanGiovanni, Yong Li, Vladan Mijatovic, Yadav Sapkota, Siew‐Kee Low, Krina T. Zondervan, Grant W. Montgomery, Dale R. Nyholt, David A. van Heel, Karen A. Hunt, Dan E. Arking, Foram N. Ashar, Nona Sotoodehnia, Daniel Woo, Jonathan Rosand and 98 more - JAMA Oncology 2017 cited by 529
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
Authors: Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel G. Laing, Sylvia A. Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John V. Pearson, Nicola Waddell, Christopher Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gécz, Adam Jaffé, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew Mallett, Julie McGaughran, Linda Mileshkin, Kátia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard W. Tothill, Deborah White, Sally L. Dunwoodie, Peter T. Simpson, Peta Phillips, Marie‐Jo Brion, Keri Finlay, Michael C. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Séan Murray, Kathy Wells, John Cannings, Andrew Sinclair, John Christodoulou, Kathryn N. North - The American Journal of Human Genetics 2023 cited by 72
- Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Authors: Nasim Mavaddat, Leila Dorling, Sara Carvalho, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, Joe Dennis, Qin Wang, Thomas U. Ahearn, Irene L. Andrulis, Matthias W. Beckmann, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Ignacio Briceño, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Georgia Chenevix‐Trench, Hans Christiansen, Kamila Czene, Thilo Dörk, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Domínguez, Jürgen Geisler, Graham G. Giles, Pascal Guénel, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Jaana M. Hartikainen, Mikael Hartman, Reiner Hoppe, Anthony Howell, Anna Jakubowska, Audrey Jung, Э. К. Хуснутдинова, Vessela N. Kristensen, Jingmei Li, Swee Ho Lim, Annika Lindblom, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubiński, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L. Milne, Nur Aishah Mohd Taib, Anna Morra, Kenneth Muir, Nadia Obi, Ana Osório, Tjoung‐Won Park‐Simon, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Xueling Sim, Melissa C. Southey, Heather Thorne, Ian Tomlinson, Diana Torres, Thérèse Truong, Cheng Har Yip, Amanda B. Spurdle, Maaike P.G. Vreeswijk, Alison M. Dunning, Montserrat García‐Closas, Paul D.P. Pharoah, Anders Kvist, Taru Muranen, Heli Nevanlinna, Soo‐Hwang Teo, Peter Devilee, Marjanka K. Schmidt, Douglas F. Easton - JAMA Oncology 2022 cited by 190
- Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
Authors: Karoline Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Penny Soucy, Joe Dennis, Susan M. Domchek, Mark E. Robson, Amanda B. Spurdle, Susan J. Ramus, Nasim Mavaddat, Mary Beth Terry, Susan L. Neuhausen, Rita K. Schmutzler, Jacques Simard, Paul D.P. Pharoah, Kenneth Offit, Fergus J. Couch, Georgia Chenevix‐Trench, Douglas F. Easton, Antonis C Antoniou - JNCI Journal of the National Cancer Institute 2016 cited by 348
- Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Authors: Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin, Mythily Ganapathi, John Garcia, Michael H. Gollob, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Glenn A. Maston, Kelly McGoldrick, Timothy Blake Palculict, Tina Pesaran, Toni I. Pollin, Emily Qian, Heidi L. Rehm, Erin Rooney Riggs, Samantha L.P. Schilit, Panagiotis I. Sergouniotis, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang, Matthew S. Lebo, Alicia B. Byrne, Amanda B. Spurdle, Blake Palculict, Bradley P. Coe, Ma Deqiong, Elaine Lyon, Emily Groopman, Emily Qian, Erik G. Puffenberger, Erin Rooney Riggs, Fergus J. Couch, Glenn Maston, Hannah Dziadzio, James Harraway, Jessica L. Mester, John Garcia, Jordan Lerner‐Ellis, Katherine A. Benson, Kayleigh Avello, Kelly McGoldrick, Laura K. Conlin, Lauren Zec, Marcie Steeves, Marcy E. Richardson, Matthew S. Lebo, Melissa Kelly, Michael H. Gollob, Minjie Luo, Mythily Ganapathi, Nicholas Watkins, Nifang Niu, Panagiotis I. Sergouniotis, Pınar Bayrak‐Toydemir, Ryan J. Schmidt, Samantha L.P. Schilit, Sarah Richards, Tina Pesaran, Toni I. Pollin, Vaidehi Jobanputra, Wenying Zhang, Wuyan Chen, Yuxin Fan - Genetics in Medicine 2023 cited by 69
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Authors: on behalf of InSiGHT, Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al‐Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T. den Dunnen, Desirée du Sart, Aurélie Fabre, Michael Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frébourg, David E. Goldgar, Christopher D. Heinen, Elke Holinski‐Feder, Maija R.J. Kohonen‐Corish, Kristina Lagerstedt‐Robinson, Suet Yi Leung, Alexandra Martins, Pål Møller, Monika Morak, Minna Nyström, Païvi Peltomäki, Marta Pineda, Ming Qi, Raj Ramesar, Lene Juel Rasmussen, Brigitte Royer‐Pokora, Rodney J. Scott, Rolf H. Sijmons, Sean V. Tavtigian, Carli M.J. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi - Nature Genetics 2013 cited by 476
- The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
Authors: Christopher I. Amos, Joe Dennis, Zhaoming Wang, Jinyoung Byun, Fredrick R. Schumacher, Simon A. Gayther, Graham Casey, David J. Hunter, Thomas A. Sellers, Stephen B. Gruber, Alison M. Dunning, Kyriaki Michailidou, Laura Fachal, Kimberly F. Doheny, Amanda B. Spurdle, Yafang Li, Xiangjun Xiao, Jane Romm, Elizabeth Pugh, Gerhard A. Coetzee, Dennis J. Hazelett, Stig E. Bojesen, Charlisse Caga-Anan, Christopher A. Haiman, Ahsan Kamal, Craig Luccarini, Daniel C. Tessier, Daniel Vincent, François Bacot, David Van Den Berg, Stefanie A. Nelson, Stephen Demetriades, David E. Goldgar, Fergus J. Couch, Judith L. Forman, Graham G. Giles, David V. Conti, Heike Bickeböller, Angela Risch, Mélanie Waldenberger, Irene Brüske‐Hohlfeld, Belynda Hicks, Hua Ling, Lesley McGuffog, Andrew Lee, Karoline Kuchenbaecker, Penny Soucy, Judith Manz, Julie M. Cunningham, Katja Butterbach, Zsofia Kote‐Jarai, Peter Kraft, Liesel M. FitzGerald, Sara Lindström, Marcia Adams, James McKay, Catherine M. Phelan, Sara Benlloch, Linda E. Kelemen, Paul Brennan, Marjorie J. Riggan, Tracy A. O’Mara, Hongbing Shen, Yongyong Shi, Deborah J. Thompson, Marc T. Goodman, Sune F. Nielsen, Andrew Berchuck, Sylvie LaBoissière, Stephanie L. Schmit, Tameka Shelford, Christopher K. Edlund, Jack A. Taylor, John K. Field, Sue K. Park, Kenneth Offit, Mads Thomassen, Rita K. Schmutzler, Laura Ottini, Rayjean J. Hung, Jonathan Marchini, Ali Amin Al Olama, Ulrike Peters, Rosalind A. Eeles, Michael F. Seldin, Elizabeth M. Gillanders, Daniela Seminara, Antonis C. Antoniou, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Stephen J. Chanock, Jacques Simard, Douglas F. Easton - Cancer Epidemiology Biomarkers & Prevention 2016 cited by 393
- Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Authors: Yan Zhang, Amber N. Hurson, Haoyu Zhang, Parichoy Pal Choudhury, Douglas F. Easton, Roger L. Milne, Jacques Simard, Per Hall, Kyriaki Michailidou, Joe Dennis, Marjanka K. Schmidt, Jenny Chang‐Claude, Puya Gharahkhani, David C. Whiteman, Peter T. Campbell, Michael Hoffmeister, Mark Jenkins, Ulrike Peters, Li Hsu, Stephen B. Gruber, Graham Casey, Stephanie L. Schmit, Tracy A. O’Mara, Amanda B. Spurdle, Deborah J. Thompson, Ian Tomlinson, Immaculata De Vivo, Maria Teresa Landi, Matthew H. Law, Mark M. Iles, Florence Démenais, Rajiv Kumar, Stuart MacGregor, D. Timothy Bishop, Sarah V. Ward, Melissa L. Bondy, Richard S. Houlston, John K. Wiencke, Beatrice Melin, Jill S. Barnholtz‐Sloan, Ben Kinnersley, Margaret Wrensch, Christopher I. Amos, Rayjean J. Hung, Paul Brennan, James McKay, Neil E. Caporaso, Sonja I. Berndt, Brenda M. Birmann, Nicola J. Camp, Peter Kraft, Nathaniel Rothman, Susan L. Slager, Andrew Berchuck, Paul D.P. Pharoah, Thomas A. Sellers, Simon A. Gayther, Celeste Leigh Pearce, Ellen L. Goode, Joellen M. Schildkraut, Kirsten B. Moysich, Laufey T. Ámundadóttir, Eric J. Jacobs, Alison P. Klein, Gloria M. Petersen, Harvey A. Risch, Rachel Z. Stolzenberg-Solomon, Brian M. Wolpin, Donghui Li, Rosalind A. Eeles, Christopher A. Haiman, Zsofia Kote‐Jarai, Fredrick R. Schumacher, Ali Amin Al Olama, Mark P. Purdue, Ghislaine Scelo, Marlene Dalgaard, Mark H. Greene, Tom Grotmol, Peter A. Kanetsky, Katherine A. McGlynn, Katherine L. Nathanson, Clare Turnbull, Fredrik Wiklund, Douglas F. Easton, Roger L. Milne, Jacques Simard, Per Hall, Kyriaki Michailidou, Joe Dennis, Marjanka K. Schmidt, Jenny Chang‐Claude, Puya Gharahkhani, David C. Whiteman, Colon Cancer Family Registry (CCFR), Peter T. Campbell, Michael Hoffmeister, Mark Jenkins, Ulrike Peters, Li Hsu and 104 more - Nature Communications 2020 cited by 132
- Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Authors: Emma Tudini, James Andrews, David Lawrence, Sarah L. King‐Smith, Naomi L. Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael W. Black, Tiffany Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuño, Kathryn Friend, Renée Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina E. Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Quang Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Kátia Nones, Kristen Palmer, John V. Pearson, Michael C. Quinn, Lesley Rawlings, Simon Sadedin, Louisa Sanchez, Andreas Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, U James, Cassandra G. Vakulin, Amanda V. Wells, C. Wise, Rick Woods, Andrew Ziolkowski, Marie‐Jo Brion, Hamish S. Scott, Natalie Thorne, Amanda B. Spurdle, Lauren Akesson, Richard J. N. Allcock, Katie A. Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia B. Byrne, Eva K.F. Chan, Corrina Cliffe, Roderick Clifton‐Bligh, S Dooley, Miriam Fanjul‐Fernández, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda R. Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah‐Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli and 3 more - The American Journal of Human Genetics 2022 cited by 33
- Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies
Authors: Xiaohong R. Yang, Jenny Chang‐Claude, Ellen L. Goode, Fergus J. Couch, Heli Nevanlinna, Roger L. Milne, Mia M. Gaudet, Marjanka K. Schmidt, Annegien Broeks, Angela Cox, Peter A. Fasching, Rebecca Hein, Amanda B. Spurdle, Fiona M. Blows, Kristy Driver, Dieter Flesch‐Janys, Judith Heinz, Hans‐Peter Sinn, Alina Vrieling, Tuomas Heikkinen, Kristiina Aittomäki, Päivi Heikkilä, Carl Blomqvist, Jolanta Lissowska, Beata Pepłońska, Stephen J. Chanock, Jonine D. Figueroa, Louise A. Brinton, Per Hall, Kamila Czene, Keith Humphreys, Hatef Darabi, Jianjun Liu, Laura van ‘t Veer, Flora E. van Leeuwen, Irene L. Andrulis, Gord Glendon, Julia A. Knight, Anna Marie Mulligan, Frances P. O’Malley, Nayana Weerasooriya, Esther M. John, Matthias W. Beckmann, Arndt Hartmann, Sebastian Weihbrecht, David L. Wachter, Sebastian M. Jud, Christian R. Loehberg, Laura Baglietto, Dallas R. English, Graham G. Giles, Catriona McLean, Gianluca Severi, Diether Lambrechts, T. Vandorpe, Caroline Weltens, Robert Paridaens, Ann Smeets, Patrick Neven, Hans Wildiers, Xianshu Wang, Janet E. Olson, Victoria Cafourek, Zachary Fredericksen, Matthew Kosel, Celine M. Vachon, Helen Cramp, Daniel Connley, Simon S. Cross, Sabapathy P. Balasubramanian, Malcolm Reed, Thilo Dörk, Michael Bremer, Andreas Meyer, Johann H. Karstens, Aysun Ay, Tjoung‐Won Park‐Simon, Peter Hillemanns, José Ignacio Arias Pérez, Primitiva Menéndez Rodríguez, Pilar Zamora, Javier Benı́tez, Yon‐Dschun Ko, Hans‐Peter Fischer, Ute Hamann, Beate Pesch, Thomas Brüning, Christina Justenhoven, Hiltrud Brauch, Diana M. Eccles, William Tapper, Sue Gerty, Elinor J. Sawyer, Ian Tomlinson, Angela Jones, Michael J. Kerin, Nicola Miller, Niall McInerney, Hoda Anton‐Culver, Argyrios Ziogas and 74 more - JNCI Journal of the National Cancer Institute 2010 cited by 716
- Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
Authors: Michael T. Parsons, Daniel D. Buchanan, Bryony A. Thompson, Joanne Young, Amanda B. Spurdle - Journal of Medical Genetics 2012 cited by 319
- BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Authors: Melissa Cline, Rachel G. Liao, Michael T. Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis C. Antoniou, Samantha Baxter, Larry Brody, Robert Cook‐Deegan, Amy Coffin, Fergus J. Couch, Brian Craft, Robert Currie, Chloe C. Dlott, Lena Dolman, Johan T. den Dunnen, Stephanie O. M. Dyke, Susan M. Domchek, Douglas F. Easton, Zachary Fischmann, William D. Foulkes, Judy E. Garber, David E. Goldgar, Mary J. Goldman, Peter Goodhand, Steven M. Harrison, David Haussler, Kazuto Kato, Bartha Maria Knoppers, Charles Markello, Robert L. Nussbaum, Kenneth Offit, Sharon E. Plon, Jem Rashbass, Heidi L. Rehm, Mark E. Robson, Wendy S. Rubinstein, Dominique Stoppa‐Lyonnet, Sean V. Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen J. Chanock, Gunnar Rätsch, Amanda B. Spurdle - PLoS Genetics 2018 cited by 210
- Heritable DNA methylation marks associated with susceptibility to breast cancer
Authors: Jihoon E. Joo, James G. Dowty, Roger L. Milne, Ee Ming Wong, Pierre‐Antoine Dugué, Dallas R. English, John L. Hopper, David E. Goldgar, Graham G. Giles, Melissa C. Southey, kConFab, Adrienne Sexton, Alice Christian, Alison H. Trainer, Allan D. Spigelman, Andrew Fellows, Andrew N. Shelling, Anna de Fazio, Anneke C. Blackburn, Ashley Crook, Bettina Meiser, Briony Patterson, Christine L. Clarke, Christobel Saunders, Clare Hunt, Clare L. Scott, David J. Amor, Deborah J. Marsh, Edward Edkins, Elizabeth Salisbury, Eric Haan, Eveline Neidermayr, Finlay Macrae, Gelareh Farshid, Geoffrey J. Lindeman, Georgia Chenevix‐Trench, Graham J. Mann, Grantley Gill, Heather Thorne, Ian Campbell, Ian B. Hickie, Ingrid Winship, Jack Goldblatt, James M. Flanagan, James Kollias, Jane E. Visvader, Jennifer Stone, Jessica Taylor, Jo Burke, Jodi M. Saunus, John Forbes, Jonathan Beesley, Judy Kirk, Juliet D. French, Kathy Tucker, Kathy H. C. Wu, Kelly Phillips, Lara Lipton, Leslie Andrews, Elizabeth Lobb, Logan C. Walker, Maira Kentwell, Amanda B. Spurdle, Margaret C. Cummings, Margaret Gleeson, Marion Harris, Mark A. Jenkins, Mary Anne Young, Martin B. Delatycki, Mathew Wallis, Matthew Burgess, Melanie A. Price, Melissa A. Brown, Michael Bogwitz, Michael Field, Michael Friedländer, Michael Gattas, Mona Saleh, Nick Hayward, Nick Pachter, Paul A. Cohen, Pascal H. G. Duijf, Paul A. James, Peter T. Simpson, Peter C.C. Fong, Phyllis Butow, Rachael Williams, Richard Kefford, Rodney J. Scott, Rosemary L. Balleine, Sarah‐Jane Dawson, Sheau Wen Lok, Shona O’Connell, Sian Greening, Sophie Nightingale, Stacey L. Edwards, Stephen B. Fox, Sue‐Anne McLachlan, Sunil R. Lakhani, Susan N. Thomas and 1 more - Nature Communications 2018 cited by 116
- The association between genetically elevated polyunsaturated fatty acids and risk of cancer
Authors: Philip Haycock, Maria Carolina Borges, Kimberley Burrows, Rozenn N. Lemaître, Stephen Burgess, Nikhil K. Khankari, Konstantinos K. Tsilidis, Tom R. Gaunt, Gibran Hemani, Jie Zheng, Thérèse Truong, Brenda M. Birmann, Tracy A. O’Mara, Amanda B. Spurdle, Mark M. Iles, Matthew H. Law, Susan L. Slager, Fatemeh Saberi Hosnijeh, Daniela Mariosa, Michelle Cotterchio, James R. Cerhan, Ulrike Peters, Stefan Enroth, Puya Gharahkhani, Loı̈c Le Marchand, Ann C. Williams, Robert Block, Christopher I. Amos, Rayjean J. Hung, Wei Zheng, Marc J. Gunter, George Davey Smith, Caroline L. Relton, Richard M. Martin, Nathan Tintle, Terri Rice, Iona Cheng, Mark A. Jenkins, Steve Gallinger, Alex J. Cornish, Amit Sud, Jayaram Vijayakrishnan, Margaret Wrensch, Mattias Johansson, Aaron D. Norman, Alison P. Klein, Alyssa Clay‐Gilmour, André Franke, Andres V Ardisson Korat, Bill Wheeler, Björn Nilsson, Caren E. Smith, Chew‐Kiat Heng, Ci Song, David Riadi, Elizabeth B. Claus, Eva Ellinghaus, Evgenia Ostroumova, Hosnijeh, Florent de Vathaire, Giovanni Cugliari, Giuseppe Matullo, Irene Oi‐Lin Ng, Jeanette E. Passow, Jia Nee Foo, Jiali Han, Jianjun Liu, Jill S. Barnholtz‐Sloan, Joellen M. Schildkraut, John M. Maris, Joseph L. Wiemels, Kari Hemminki, Keming Yang, Lambertus A Kiemeney, Lang Wu, Laufey T. Ámundadóttir, Marc‐Henri Stern, Marie-Christine Boutron, Mark M. Iles, Mark P. Purdue, Martin Stanulla, Melissa L. Bondy, Mia M. Gaudet, Lenha Mobuchon, Nicola J. Camp, Pak C. Sham, Pascal Guénel, Paul Brennan, Philip R. Taylor, Quinn T. Ostrom, Rachael Z. Stolzenberg‐Solomon, Rajkumar Dorajoo, Richard Houlston, Robert B. Jenkins, Sharon J. Diskin, Sonja I. Berndt, Spiridon Tsavachidis, Stephen J. Channock, Tabitha A. Harrison, Tessel E. Galesloot and 6 more - EBioMedicine 2023 cited by 52
- Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls
Authors: Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo - Nature Communications 2018 cited by 274
