Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families von Li, Jun, Meeks, Huong, Feng, Bing-Jian, Healey, Sue, Thorne, Heather, Makunin, Igor, Ellis, Jonathan, Campbell, Ian, Southey, Melissa, Mitchell, Gillian, Clouston, David, Kirk, Judy, Goldgar, David, Chenevix-Trench, Georgia

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Clinical Classification of BRCA1 and BRCA2 DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators von SPURDLE, Amanda B, LAKHANI, Sunil R, TAVTIGIAN, Sean V, GOLDGAR, David E, HEALEY, Sue, PARRY, Suzanne, DA SILVA, Leonard M, BRINKWORTH, Ross, HOPPER, John L, BROWN, Melissa A, BABIKYAN, Davit, CHENEVIX-TRENCH, Georgia

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Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity von Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.

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Rare variants in the ATMgene and risk of breast cancer von Goldgar, David E, Healey, Sue, Dowty, James G, Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B, Terry, Mary Beth, Daly, Mary J, Buys, Saundra M, Southey, Melissa C, Andrulis, Irene, John, Esther M, , Khanna, Kum Kum, Hopper, John L, Oefner, Peter J, Lakhani, Sunil, Chenevix-Trench, Georgia

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ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence var... von Spurdle, Amanda B., Healey, Sue, Devereau, Andrew, Hogervorst, Frans B. L., Monteiro, Alvaro N. A., Nathanson, Katherine L., Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J., Goldgar, David E.

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Mapping of a candidate colorectal cancer tumor-suppressor gene to a 900-kilobase region on the short arm of chromosome 8 von Flanagan, James M., Healey, Sue, Young, Joanne, Whitehall, Vicki, Trott, Deborah A., Newbold, Robert F., Chenevix-Trench, Georgia

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Rare variants in the ATM gene and risk of breast cancer von Goldgar, David E, Healey, Sue, Dowty, James G, Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B, Terry, Mary Beth, Daly, Mary J, Buys, Saundra M, Southey, Melissa C, Andrulis, Irene, John, Esther M, Khanna, Kum Kum, Hopper, John L, Oefner, Peter J, Lakhani, Sunil, Chenevix-Trench, Georgia

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Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer von Tavtigian, Sean V., Oefner, Peter J., Babikyan, Davit, Hartmann, Anne, Healey, Sue, Le Calvez-Kelm, Florence, Lesueur, Fabienne, Byrnes, Graham B., Chuang, Shu-Chun, Forey, Nathalie, Feuchtinger, Corinna, Gioia, Lydie, Hall, Janet, Hashibe, Mia, Herte, Barbara, McKay-Chopin, Sandrine, Thomas, Alun, Vallée, Maxime P., Voegele, Catherine, Webb, Penelope M., Whiteman, David C., Sangrajrang, Suleeporn, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M., Chenevix-Trench, Georgia

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Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay von Waddell, Nic, Cocciardi, Sibylle, Johnson, Julie, Healey, Sue, Marsh, Anna, Riley, Joan, Silva, Leonard da, Vargas, Ana Cristina, Reid, Lynne, Simpson, Peter T, Lakhani, Sunil R, Chenevix-Trench, Georgia

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HER3 and downstream pathways are involved in colonization of brain metastases from breast cancer von Da Silva, Leonard, Simpson, Peter T, Smart, Chanel E, Cocciardi, Sibylle, Waddell, Nic, Lane, Annette, Morrison, Brian J, Vargas, Ana Cristina, Healey, Sue, Beesley, Jonathan, Pakkiri, Pria, Parry, Suzanne, Kurniawan, Nyoman, Reid, Lynne, Keith, Patricia, Faria, Paulo, Pereira, Emilio, Skalova, Alena, Bilous, Michael, Balleine, Rosemary L, Do, Hongdo, Dobrovic, Alexander, Fox, Stephen, Franco, Marcello, Reynolds, Brent, Khanna, Kum Kum, Cummings, Margaret, Chenevix-Trench, Georgia, Lakhani, Sunil R

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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance von 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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Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families von Johnson, Julie, Healey, Sue, Khanna, Kum Kum, Chenevix-Trench, Georgia

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Cognition and the temporal arts: Investigating audience response to dance using PDAs that record continuous data during live performance von Stevens, Catherine J., Schubert, Emery, Morris, Rua Haszard, Frear, Matt, Chen, Johnson, Healey, Sue, Schoknecht, Colin, Hansen, Stephen

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Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon... von Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Investigators, kConFab, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J., Spurdle, Amanda B.

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A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins von Painter, Jodie N., Willemsen, Gonneke, Nyholt, Dale, Hoekstra, Chantal, Duffy, David L., Henders, Anjali K., Wallace, Leanne, Healey, Sue, Cannon-Albright, Lisa A., Skolnick, Mark, Martin, Nicholas G., Boomsma, Dorret I., Montgomery, Grant W.

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer von Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, Van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas V. O, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Blanco Guillermo, Ignacio, Lázaro García, Conxi, Pujana Genestar, M. Ángel

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer von Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan P, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa C, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas V. O, Jønson, Lars, Gerdes, Anne Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Blanco Guillermo, Ignacio, Lázaro García, Conxi, Pujana Genestar, M. Ángel

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Atopy in Australia von Duffy, David L, Weger, John, Chenevix-Trench, Georgia, Healey, Sue C, Lichter, Jay, Martin, Nick G

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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers von Maia, Ana-Teresa, Antoniou, Antonis C, O'Reilly, Martin, Samarajiwa, Shamith, Dunning, Mark, Kartsonaki, Christiana, Chin, Suet-Feung, Curtis, Christina N, McGuffog, Lesley, Domchek, Susan M, Easton, Douglas F, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Eccles, Diana, Sinilnikova, Olga M, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Faivre, Laurence, Venat-Bouvet, Laurence, Delnatte, Capucine, Nevanlinna, Heli, Couch, Fergus J, Godwin, Andrew K, Caligo, Maria Adelaide, Barkardottir, Rosa B, Chen, Xiaoqing, Beesley, Jonathan, Healey, Sue, Caldas, Carlos, Chenevix-Trench, Georgia, Ponder, Bruce A J

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An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers von Blein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B, Soucy, Penny, Terry, Mary Beth, Chung, Wendy K, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C, Hansen, Thomas V. O, Osorio, Ana, Benitez, Javier, Andres Conejero, Raquel, Segota, Ena, Weitzel, Jeffrey N, Thelander, Margo, Peterlongo, Paolo, Radice, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Bonanni, Bernardo, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Manoukian, Siranoush, Varesco, Liliana, Capone, Gabriele L, Papi, Laura, Ottini, Laura, Yannoukakos, Drakoulis, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, van der Luijt, Rob B, Breast Canc Family Registry, EMBRACE, GEMO Study Collaborators, HEBON

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