A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types by Kamb, Alexander, Gruis, Nelleke A., Weaver-Feldhaus, Jane, Liu, Qingyun, Harshman, Keith, Tavtigian, Sean V., Stockert, Elisabeth, Day, Rufus S., Johnson, Bruce E., Skolnick, Mark H.

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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance by CHENEVIX-TRENCH, Georgia, HEALEY, Sue, SCHOLL, Tom, BEKESSY, Anna, MARSH, Anna, LOVELOCK, Paul, WONG, Ming, TESORIERO, Andrea, RENARD, Helene, SOUTHEY, Melissa, HOPPER, John L, YANNOUKAKOS, Koulis, LAKBANI, Sunil, BROWN, Melissa, EASTON, Douglas, TAVTIGIAN, Sean V, GOLDGAR, David, SPURDLE, Amanda B, WARING, Paul, CUMMINGS, Margaret, BRINKWORTH, Ross, DEFFENBAUGH, Amie M, BURBIDGE, Lynn Anne, PRUSS, Dmitry, JUDKINS, Thad

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

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Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers by Park, Daniel J, Tao, Kayoko, Le Calvez-Kelm, Florence, Nguyen-Dumont, Tu, Robinot, Nivonirina, Hammet, Fleur, Odefrey, Fabrice, Tsimiklis, Helen, Teo, Zhi L, Thingholm, Louise B, Young, Erin L, Voegele, Catherine, Lonie, Andrew, Pope, Bernard J, Roane, Terrell C, Bell, Russell, Hu, Hao, Shankaracharya, Huff, Chad D, Ellis, Jonathan, Li, Jun, Makunin, Igor V, John, Esther M, Andrulis, Irene L, Terry, Mary B, Daly, Mary, Buys, Saundra S, Snyder, Carrie, Lynch, Henry T, Devilee, Peter, Giles, Graham G, Hopper, John L, Feng, Bing-Jian, Lesueur, Fabienne, Tavtigian, Sean V, Southey, Melissa C, Goldgar, David E

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BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines by WONG, Alexander K. C, SHANAHAN, Frances, SMITH, Richard, SALADA, Grant, CARILLO, Arlene, LAITY, Kirsten, GUPTE, Jamila, SWEDLUND, Brad, TAVTIGIAN, Sean V, TENG, David H-F, LEES, Emma, YUAN CHEN, LUBING LIAN, PHUONG HA, HENDRICKS, Kristin, GHAFFARI, Siavash, ILIEV, Diana, PENN, Brandon, WOODLAND, Anne-Marie

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Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2 by Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne

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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families by Durocher, Francine, Labrie, Yvan, Soucy, Penny, Sinilnikova, Olga, Labuda, Damian, Bessette, Paul, Chiquette, Jocelyne, Laframboise, Rachel, Lépine, Jean, Lespérance, Bernard, Ouellette, Geneviève, Pichette, Roxane, Plante, Marie, Tavtigian, Sean V, Simard, Jacques

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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 Holdren, Megan, Richardson, Marcy, Ritter, Deborah, Young, Colin, Brannan, Terra, Pesaran, Tina, Zec, Lauren, Hiraki, Susan, Anderson, Michael, Southey, Melissa, Turnbull, Clare, Tischkowitz, Marc, Rana, Huma, McNulty Gray, Shannon, Tavtigian, Sean, Walker, Logan, Foulkes, William, Monteiro, Alvaro, Brnich, Sarah, Cline, Melissa, Spurdle, Amanda, de la Hoya, Miguel, Couch, Fergus

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Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z by Chen, Yang, Beck, Audrey, Davenport, Christina, Chen, Yuan, Shattuck, Donna, Tavtigian, Sean V

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Identification of women with an increased risk of developing radiation-induced breast cancer by Cardis, Elisabeth, Hall, Janet, Tavtigian, Sean V

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

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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? by Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth T S, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A

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Complex structure and regulation of the P16 (MTS1) locus by STONE, S, PING JIANG, PRIYA DAYANANTH, TAVTIGIAN, S. V, KATCHER, H, PARRY, D, PETERS, G, KAMB, A

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Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation by SODHA, Nayanta, MANTONI, Tine S, TAVTIGIAN, Sean V, EELES, Rosalind, GARRETT, Michelle D

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBNcontribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mut... by Damiola, Francesca, Pertesi, Maroulio, Oliver, Javier, Le Calvez-Kelm, Florence, Voegele, Catherine, Young, Erin L, Robinot, Nivonirina, Forey, Nathalie, Durand, Geoffroy, Vallñe, Maxime P, Tao, Kayoko, Roane, Terrell C, Williams, Gareth J, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Goldgar, David E, Lesueur, Fabienne, Tavtigian, Sean V

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FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets by Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J

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GENETICS. The Human Variome Project by Cotton, Richard G H, Auerbach, Arleen D, Axton, Myles, Barash, Carol Isaacson, Berkovic, Samuel F, Brookes, Anthony J, Burn, John, Cutting, Garry, den Dunnen, Johan T, Flicek, Paul, Freimer, Nelson, Greenblatt, Marc S, Howard, Heather J, Katz, Michael, Macrae, Finlay A, Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Rajkumar S, Richards, Carolyn S, Seminara, Daniela, Smith, Timothy D, Sobrido, María-Jesús, Solbakk, Jan Helge, Tanzi, Rudolph E, Tavtigian, Sean V, Taylor, Graham R, Utsunomiya, Joji, Watson, Michael

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447 Effect of COX and EGFR Inhibition on Duodenal Neoplasia in Familial Adenomatous Polyposis: a Randomized Placebo-Controlled Trial by Samadder, N. Jewel, Neklason, Deborah, Kanth, Priyanka, Byrne, Kathryn R, Samowitz, Wade, Jasperson, Kory, Kohlmann, Wendy, Gammon, Amanda, Champine, Marjan, Nathan, Deepika, Boucher, Kenneth M, Greene, Tom, Pappas, Lisa, Fang, John C, Valentine, John F, Hagedorn, Curt, Jones, David, Tavtigian, Sean V, Done, Michelle W, Berry, Therese, Smith, Laurel, Larson, Mikaela, Martineau, Lindsey, Sample, Danielle, Christenson, Cristina, Keener, Megan, Strait, Elena G, Mckinnon, Wendy, Greenblatt, Marc S, Lynch, Patrick M, Burt, Randall W, Kuwada, Scott K

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Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil by Palmero, Edenir Inêz, Alemar, Bárbara, Schüler-Faccini, Lavínia, Hainaut, Pierre, Moreira-Filho, Carlos Alberto, Ewald, Ingrid Petroni, Santos, Patricia Koehler Dos, Ribeiro, Patricia Lisbôa Izetti, Oliveira, Cristina Brinkmann de Netto, Calvez-Kelm, Florence Le, Tavtigian, Sean, Cossio, Silvia Liliana, Giugliani, Roberto, Caleffi, Maira, Ashton-Prolla, Patricia

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Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap by Al-Alem, Umaima, Li, Cuiling, Forey, Nathalie, Relouzat, Francis, Fondanèche, Marie-Claude, Tavtigian, Sean V., Wang, Zhao-Qi, Latour, Sylvain, Yin, Luo

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