P534: Investigating independence of PS3 and PM1 evidence categories using case-control data in BRCA1

by Scott Pew, Madison Baugh, Julie Boyle, David Goldgar, Sean Tavtigian
Published 2023-01-01

P721: Computational tool performance across BRCA1: A case-control informed analysis

by Scott Pew, Madison Wiffler, Julie Boyle, Sean Tavtigian, David Goldgar
Published 2024-01-01

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

by Francisco Javier Gracia-Aznarez, Victoria Fernandez, Guillermo Pita, Paolo Peterlongo, Orlando Dominguez, Miguel de la Hoya, Mercedes Duran, Ana Osorio, Leticia Moreno, Anna Gonzalez-Neira, Juan Manuel Rosa-Rosa, Olga Sinilnikova, Sylvie Mazoyer, John Hopper, Conchi Lazaro, Melissa Southey, Fabrice Odefrey, Siranoush Manoukian, Irene Catucci, Trinidad Caldes, Henry T Lynch, Florentine S M Hilbers, Christi J van Asperen, Hans F A Vasen, David Goldgar, Paolo Radice, Peter Devilee, Javier Benitez
Published 2013-01-01

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

by Jennifer D. Brooks, Hermann Nabi, Irene L. Andrulis, Antonis C. Antoniou, Jocelyne Chiquette, Philippe Després, Peter Devilee, Michel Dorval, Arnaud Droit, Douglas F. Easton, Andrea Eisen, Laurence Eloy, Samantha Fienberg, David Goldgar, Eric Hahnen, Yann Joly, Bartha Maria Knoppers, Aisha Lofters, Jean-Yves Masson, Nicole Mittmann, Jean-Sébastien Paquette, Nora Pashayan, Rita Schmutzler, Tracy Stockley, Sean V. Tavtigian, Meghan J. Walker, Michael Wolfson, Anna Maria Chiarelli, Jacques Simard
Published 2021-06-01

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*

by Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle
Published 2023-01-01

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

by Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis 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 Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Heidi L Rehm, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen Chanock, Gunnar Rätsch, Amanda B Spurdle
Published 2018-12-01

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

by Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, EMBRACE Collaborators, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton, Matti A. Rookus, Christoph Engel
Published 2023-06-01