P050: Establishment of a novel functional assay to test ATM variants of uncertain significance by Ishor Thalpa, Kathleen Clark, Sean Tavtigian

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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

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P721: Computational tool performance across BRCA1: A case-control informed analysis by Scott Pew, Madison Wiffler, Julie Boyle, Sean Tavtigian, David Goldgar

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P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification by Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm

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P364: Exploring the effects of a point mutation in the 5’ UTR of APC found in a family with colon cancer by Brendon Young, Sean Tavtigian, Kathleen Clark, Megan Keener, Deborah Neklason, Austin Wood, Wendy McKinnon, Marc Greenblatt

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P644: Can computational tools generate greater than ACMG supporting evidence? A circularity-free analysis using ATM, CHEK2, and breast cancer case-control data by Julie Boyle, Siqi Hu, Scott Pew, Colin Young, Bing-Jian Feng, Colin Mackenzie, Mia Hashibe, Sean Tavtigian

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FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor by Lisa A. Cannon‐Albright, Craig C. Teerlink, Jeffrey Stevens, Angela K. Snow, Bryony A. Thompson, Russell Bell, Kim N. Nguyen, Nykole R. Sargent, Wendy K. Kohlmann, Deborah W. Neklason, Sean V. Tavtigian

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P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel by Megan Holdren, Marcy Richardson, Deborah Ritter, Colin Young, Terra Brannan, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William Foulkes, Alvaro Monteiro, Sarah Brnich, Melissa Cline, Amanda Spurdle, Miguel de la Hoya, Fergus Couch

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Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigat... by Sinilnikova, O, McKay, J, Tavtigian, S, Canzian, F, DeSilva, D, Biessy, C, Monnier, S, Dossus, L, Boillot, C, Gioia, L, Hughes, D, Jensen, M, Overvad, K, Tjonneland, A, Olsen, A, Clavel-Chapelon, F, Chajès, V, Joulin, V, Linseisen, J, Chang-Claude, J, Boeing, H, Dahm, S, Trichopoulou, A, Trichopoulos, D, Koliva, M

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

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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

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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of... by Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A. Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G. E. M. Ausems, Riccardo Berutti, Manjeet K. Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R. Dufault, Alison M. Dunning, Christoph Engel, Andrea Gehrig, Willemina R. R. Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B. L. Hogervorst, Antoinette Hollestelle, Maartje J. Hooning, Judit Horváth, M. Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W. M. Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D. P. Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M. Strom, Christian Sutter, Holger Thiele, Christi J. van Asperen, Lizet van der Kolk, Rob B. van der Luijt, Alexander E. Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H. F. Weber, Genome of the Netherlands Project, GHS Study Group, Peter Devilee, Sean Tavtigian, Gary D. Bader, Alfons Meindl, David E. Goldgar, Irene L. Andrulis, Rita K. Schmutzler, Douglas F. Easton, Marjanka K. Schmidt, Eric Hahnen, Jacques Simard

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS by Southey, M, Goldgar, D, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, W, Dennis, J, Michailidou, K, van Rensburg, E, Heikkinen, T, Nevanlinna, H, Hopper, J, Dörk, T, Claes, K, Reis-Filho, J, Teo, Z, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, F, Dowty, J, Schmidt, M, Broeks, A, Hogervorst, F, Verhoef, S, Carpenter, J, Clarke, C, Scott, R, Fasching, P, Haeberle, L, Ekici, A, Beckmann, M, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, S, Nielsen, S, Flyger, H, Benitez, J, Zamora, M, Perez, J, Menéndez, P, Anton-Culver, H, Neuhausen, S, Ziogas, A, Clarke, C, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, Y, Muranen, T, Aittomäki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V, Hartikainen, J, Spurdle, A, Investigators, K, Wauters, E, Smeets, D, Beuselinck, B, Floris, G, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Olson, J, Vachon, C, Pankratz, V, McLean, C, Haiman, C, Henderson, B, Schumacher, F, Le Marchand, L, Kristensen, V, Alnæs, G, Zheng, W, Hunter, D, Lindstrom, S, Hankinson, S, Kraft, P, Andrulis, I, Knight, J, Glendon, G, Mulligan, A, Jukkola-Vuorinen, A, Grip, M, Kauppila, S, Devilee, P, Tollenaar, R, Seynaeve, C, Hollestelle, A, Garcia-Closas, M, Figueroa, J, Chanock, S, Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Eccles, D, Rafiq, S, Tapper, W, Gerty, S, Hooning, M, Martens, J, Collée, J, Tilanus-Linthorst, M, Hall, P, Li, J, Brand, J, Humphreys, K, Cox, A, Reed, M, Luccarini, C, Baynes, C, Dunning, A, Hamann, U, Torres, D, Ulmer, H, Rüdiger, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Slager, S, Toland, A, Ambrosone, C, Yannoukakos, D, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, González-Neira, A, Pita, G, Alonso, M, Álvarez, N, Herrero, D, Tessier, D, Vincent, D, Bacot, F, Simard, J, Dumont, M, Soucy, P, Eeles, R, Muir, K, Wiklund, F, Gronberg, H, Schleutker, J, Nordestgaard, B, Weischer, M, Travis, R, Neal, D, Donovan, J, Hamdy, F, Khaw, K, Stanford, J, Blot, W, Thibodeau, S, Schaid, D, Kelley, J, Maier, C, Kibel, A, Cybulski, C, Cannon-Albright, L, Butterbach, K, Park, J, Kaneva, R, Batra, J, Teixeira, M, Kote-Jarai, Z, Olama, A, Benlloch, S, Renner, S, Hartmann, A, Hein, A, Ruebner, M, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambretchs, S, Doherty, J, Rossing, M, Nickels, S, Eilber, U, Wang-Gohrke, S, Odunsi, K, Sucheston-Campbell, L, Friel, G, Lurie, G, Killeen, J, Wilkens, L, Goodman, M, Runnebaum, I, Hillemanns, P, Pelttari, L, Butzow, R, Modugno, F, Edwards, R, Ness, R, Moysich, K, du Bois, A, Heitz, F, Harter, P, Kommoss, S, Karlan, B, Walsh, C, Lester, J, Jensen, A, Kjaer, S, Høgdall, E, Peissel, B, Bonanni, B, Bernard, L, Goode, E, Fridley, B, Vierkant, R, Cunningham, J, Larson, M, Fogarty, Z, Kalli, K, Liang, D, Lu, K, Hildebrandt, M, Wu, X, Levine, D, Dao, F, Bisogna, M, Berchuck, A, Iversen, E, Marks, J, Akushevich, L, Cramer, D, Schildkraut, J, Terry, K, Poole, E, Stampfer, M, Tworoger, S, Bandera, E, Orlow, I, Olson, S, Bjorge, L, Salvesen, H, van Altena, A, Aben, K, Kiemeney, L, Massuger, L, Pejovic, T, Bean, Y, Brooks-Wilson, A, Kelemen, L, Cook, L, Le, N, Górski, B, Gronwald, J, Menkiszak, J, Høgdall, C, Lundvall, L, Nedergaard, L, Engelholm, S, Dicks, E, Tyrer, J, Campbell, I, McNeish, I, Paul, J, Siddiqui, N, Glasspool, R, Whittemore, A, Rothstein, J, McGuire, V, Sieh, W, Cai, H, Shu, X, Teten, R, Sutphen, R, McLaughlin, J, Narod, S, Phelan, C, Monteiro, A, Fenstermacher, D, Lin, H, Permuth, J, Sellers, T, Chen, Y, Tsai, Y, Chen, Z, Gentry-Maharaj, A, Gayther, S, Ramus, S, Menon, U, Wu, A, Pearce, C, Van Den Berg, D, Pike, M, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Moes-Sosnowska, J, Kupryjanczyk, J, Pharoah, P, Song, H, Winship, I, Chenevix-Trench, G, Giles, G, Tavtigian, S, Easton, D, Milne, R