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1. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract: BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.
Published: 2016

2. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Author: Rebbeck, Timothy R, Friebel, Tara M, Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L, Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K, Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S, Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen BM, Couch, Fergus J, Cybulski, Cezary, Daly, Mary B, de la Hoya, Miguel, Diez, Orland, Domchek, Susan M, Nathanson, Katherine L, Durda, Katarzyna, Ellis, Steve, EMBRACE, Evans, D Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Glendon, Gord, Godwin, Andrew K, Greene, Mark H, Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas VO, HEBON, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M, Karlan, Beth Y, Kaufman, Bella, Investigators, KConFab, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A, Seynaeve, Caroline, Simard, Jacques, Singer, Christian F, Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I, Tancredi, Mariella, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J, Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Zidan, Jamal, and Zorn, Kristin K
Subjects: EMBRACE, HEBON, Humans, Breast Neoplasms, Population Surveillance, Heterozygote, Phenotype, Loss of Heterozygosity, Germ-Line Mutation, Alleles, Genes, BRCA1, Genes, BRCA2, Exons, Female, Promoter Regions, Genetic, BRCA1, BRCA2, Hereditary breast and ovarian cancer, Transheterozygosity, Genes, Promoter Regions, Genetic, Clinical Research, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract: BackgroundMost BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.MethodsFrom 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2.ResultsThe majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p
Published: 2016

3. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P
Published: 2017
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4. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Author: Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Gareth Evans, D., Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques, EMBRACE, GEMO Study Collaborators, HEBON, and KConFab Investigators
Published: 2017
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5. Cytosine 5-Hydroxymethylation of the LZTS1 Gene Is Reduced in Breast Cancer

Author: Matthias, Wielscher, Liou, Willy, Pulverer, Walter, Singer, Christian F., Rappaport-Fuerhauser, Christine, Kandioler, Daniela, Egger, Gerda, and Weinhäusel, Andreas
Published: 2013
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6. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author: Milne, Roger L., Kuchenbaecker, Karoline B., Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindstrom, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K., McGuffog, Lesley, Wang, Qin, Aalfs, Cora M., Abctctb, Investigators, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittom, Kristiina Äki, Fares, Al Ejeh, Allen, Jamie, Ambrosone, Christine B., Amos, Christopher I., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Auber, Bernd, Auer, Paul L., Ausems, Margreet G.M., Azzollini, Jacopo, François, Bacot, Balma, Judith Nã, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B., Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves Jean, Blazer, Kathleen R., Blok, Marinus J., Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bonanni, Bernardo, Anne-Lise, Børresen Dale, Bozsik, Aniko, Bradbury, Angela R., Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brigitte, Bressac De Paillerets, Brewer, Carole, Brinton, Louise, Broberg, Per, Angela, Brooks Wilson, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byun, Jinyoung, Cai, Qiuyin, Cald, Trinidad És, Caligo, Maria A., Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D., Esteban, Castelao, Castera, Laurent, Virginie, Caux Moncoutier, Chan, Salina B., Jenny, Chang Claude, Chanock, Stephen J., Chen, Xiaoqing, Cheng, Ting Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B., Clarke, Christine L., Conner, Thomas, Conroy, Don M., Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G., Cross, Simon S., Cuk, Katarina, Cunningham, J. M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, Leeneer, Kim De L., Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre Antoine, Dumont, Martine, Dunning, Alison M., Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A., Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D., Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, Garciá-Saénz, José A., Gaudet, Mia M., Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne Marie, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goodfellow, Paul, Greene, Mark H., Grenaker, Grethe Alnæs I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler, Daphne Kaulich, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V., Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Healey, Catherine S., Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Bob, Hopper, John L., Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Hunter, David J., Imyanitov, Evgeny N., Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J., Kets, Carolien M., Keupers, Mac Hteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung Won, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela N., Kruse, Torben A., Kwong, Ava, Lænkholm, Anne Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Marchand, Loic Le, Lindström, Sara, Al-Ejeh, Fares, Margreet, G. M.Ausems, Bacot, François, Børresen-Dale, Anne Lise, Bressac-De, Brigitte Paillerets, Brooks-Wilson, Angela, Castelao, J. Esteban, Caux-Moncoutier, Virginie, Chang-Claude, Jenny, McLaes, Kathleen B., Leeneer, Kim De, Dieter, Flesch Janys, Gschwantler-Kaulich, Daphne, Keupers, MacHteld, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Won, Jong Lee, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T., Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E., Siranoush, Manoukian, Manson, Joann E., Margolin, Sara, Martens, John W., Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F., Nordestgaard, Børge G., Norman, Aaron, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, Ong, Kai Ren, Oosterwijk, Jan C., Orr, Nick, Osorio, Ana, Pankratz, V. Shane, Papi, Laura, Park-Simon, Tjoung Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M., Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E., Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C., Romero, Atocha, Romm, Jane, Rookus, Matti A., Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J., Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J., Shu, Xiao Ou, Side, Lucy E., Singer, Christian F., Sohn, Christof, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla M., Tan, Yen Y., Taylor, Jack A., Tejada, Maria Isabel, Tengström, Maria, Teo, Soo H., Terry, Mary B., Tessier, Daniel C., Teul, Alex E., Thöne, Kathrin, Thull, Darcy L., Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A.M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans Ulrich, Vachon, Celine, Christi, Van Asperen J., Den Berg, David Van, Ouweland, Ans M.Vanden, Rensburg, Elizabeth J., Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S., Wijnen, Juul T., Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K., Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R., Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K., Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K., Droit, Arnaud, Bader, Gary D., Pharoah, Paul D., Couch, Fergus J., Easton, Douglas F., Kraft, Peter, Chenevix-Trench, Georgia, Garciá-Closas, Montserrat, Schmidt, Marjanka K., Antoniou, Antonis C., Simard, Jacques, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Medical Oncology, Internal Medicine, Obstetrics & Gynecology, MUMC+: DA KG Lab Centraal Lab (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine
Subjects: 0301 basic medicine, Oncology, Estrogen receptor, Genome-wide association study, consortium, Gene mutation, DISEASE, Breast cancer, Risk Factors, Receptors, common variants, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, ovarian cancers, BRCA1 Protein, COMMON VARIANTS, Single Nucleotide, OVARIAN CANCERS, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Receptors, Estrogen, functional variants, Female, estrogen receptor, SNPs, EXPRESSION, medicine.medical_specialty, Heterozygote, SUSCEPTIBILITY LOCI, European Continental Ancestry Group, Breast cancer, estrogen receptor, SNPs, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, White People, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, expression, medicine, Genetic predisposition, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, Risk factor, Polymorphism, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, disease, CONSORTIUM, Case-control study, Biology and Life Sciences, medicine.disease, confer susceptibility, Estrogen, susceptibility loci, 030104 developmental biology, Mutation, genome-wide association, brca2 mutation carriers, Genome-Wide Association Study
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017
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7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M. Kuchenbaecker, Karoline B. Tyrer, Jonathan P. Kar, Siddhartha P. Lawrenson, Kate Winham, Stacey J. and Dennis, Joe Pirie, Ailith Riggan, Marjorie J. Chornokur, Ganna Earp, Madalene A. Lyra, Jr., Paulo C. Lee, Janet M. and Coetzee, Simon Beesley, Jonathan McGuffog, Lesley Soucy, Penny Dicks, Ed Lee, Andrew Barrowdale, Daniel and Lecarpentier, Julie Leslie, Goska Aalfs, Cora M. Aben, Katja K. H. Adams, Marcia Adlard, Julian Andrulis, Irene L. and Anton-Culver, Hoda Antonenkova, Natalia Aravantinos, Gerasimos and Arnold, Norbert Arun, Banu K. Arver, Brita Azzollini, Jacopo Balmana, Judith Banerjee, Susana N. Barjhoux, Laure and Barkardottir, Rosa B. Bean, Yukie Beckmann, Matthias W. and Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina and Bernardini, Marcus Q. Birrer, Michael J. Bjorge, Line Black, Amanda Blankstein, Kenneth Blok, Marinus J. Bodelon, Clara and Bogdanova, Natalia Bojesen, Anders Bonanni, Bernardo and Borg, Ake Bradbury, Angela R. Brenton, James D. Brewer, Carole Brinton, Louise Broberg, Per Brooks-Wilson, Angela and Bruinsma, Fiona Brunet, Joan Buecher, Bruno Butzow, Ralf and Buys, Saundra S. Caldes, Trinidad Caligo, Maria A. and Campbell, Ian Cannioto, Rikki Carney, Michael E. Cescon, Terence Chan, Salina B. Chang-Claude, Jenny Chanock, Stephen and Chen, Xiao Qing Chiew, Yoke-Eng Chiquette, Jocelyne and Chung, Wendy K. Claes, Kathleen B. M. Conner, Thomas Cook, Linda S. Cook, Jackie Cramer, Daniel W. Cunningham, Julie M. and D'Aloisio, Aimee A. Daly, Mary B. Damiola, Francesca and Damirovna, Sakaeva Dina Dansonka-Mieszkowska, Agnieszka Dao, Fanny Davidson, Rosemarie DeFazio, Anna Delnatte, Capucine and Doheny, Kimberly F. Diez, Orland Ding, Yuan Chun and Doherty, Jennifer Anne Domchek, Susan M. Dorfling, Cecilia M. and Dork, Thilo Dossus, Laure Duran, Mercedes Durst, Matthias Dworniczak, Bernd Eccles, Diana Edwards, Todd and Eeles, Ros Eilber, Ursula Ejlertsen, Bent Ekici, Arif B. and Ellis, Steve Elvira, Mingajeva Eng, Kevin H. Engel, Christoph Evans, D. Gareth Fasching, Peter A. Ferguson, Sarah Ferrer, Sandra Fert Flanagan, James M. Fogarty, Zachary C. Fortner, Renee T. Fostira, Florentia Foulkes, William D. Fountzilas, George Fridley, Brooke L. Friebel, Tara M. Friedman, Eitan Frost, Debra Ganz, Patricia A. and Garber, Judy Garcia, Maria J. Garcia-Barberan, Vanesa and Gehrig, Andrea Gentry-Maharaj, Aleksandra Gerdes, Anne-Marie and Giles, Graham G. Glasspool, Rosalind Glendon, Gord Godwin, Andrew K. Goldgar, David E. Goranova, Teodora Gore, Martin and Greene, Mark H. Gronwald, Jacek Gruber, Stephen Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute and Hansen, Thomas V. O. Harrington, Patricia A. Harris, Holly R. Hauke, Jan Hein, Alexander Henderson, Alex and Hildebrandt, Michelle A. T. Hillemanns, Peter Hodgson, Shirley and Hogdall, Claus K. Hogdall, Estrid Hogervorst, Frans B. L. and Holland, Helene Hooning, Maartje J. Hosking, Karen and Huang, Ruea-Yea Hulick, Peter J. Hung, Jillian Hunter, David J. Huntsman, David G. Huzarski, Tomasz Imyanitov, Evgeny N. and Isaacs, Claudine Iversen, Edwin S. Izatt, Louise and Izquierdo, Angel Jakubowska, Anna James, Paul Janavicius, Ramunas Jernetz, Mats Jensen, Allan Jensen, Uffe Birk and John, Esther M. Johnatty, Sharon Jones, Michael E. Kannisto, Paivi Karlan, Beth Y. Karnezis, Anthony Kast, Karin and Kennedy, Catherine J. Khusnutdinova, Elza Kiemeney, Lambertus A. and Kiiski, Johanna I. Kim, Sung-Won Kjaer, Susanne K. and Kobel, Martin Kopperud, Reidun K. Kruse, Torben A. and Kupryjanczyk, Jolanta Kwong, Ava Laitman, Yael Lambrechts, Diether Larranaga, Nerea Larson, Melissa C. Lazaro, Conxi and Le, Nhu D. Le Marchand, Loic Lee, Jong Won Lele, Shashikant B. Leminen, Arto Leroux, Dominique Lester, Jenny and Lesueur, Fabienne Levine, Douglas A. Liang, Dong and Liebrich, Clemens Lilyquist, Jenna Lipworth, Loren and Lissowska, Jolanta Lu, Karen H. Lubinski, Jan Luccarini, Craig Lundvall, Lene Mai, Phuong L. Mendoza-Fandino, Gustavo and Manoukian, Siranoush Massuger, Leon F. A. G. May, Taymaa and Mazoyer, Sylvie McAlpine, Jessica N. McGuire, Valerie and McLaughlin, John R. McNeish, Iain Meijers-Heijboer, Hanne and Meindl, Alfons Menon, Usha Mensenkamp, Arjen R. Merritt, Melissa A. Milne, Roger L. Mitchell, Gillian Modugno, Francesmary Moes-Sosnowska, Joanna Moffitt, Melissa and Montagna, Marco Moysich, Kirsten B. Mulligan, Anna Marie and Musinsky, Jacob Nathanson, Katherine L. Nedergaard, Lotte and Ness, Roberta B. Neuhausen, Susan L. Nevanlinna, Heli and Niederacher, Dieter Nussbaum, Robert L. Odunsi, Kunle Olah, Edith Olopade, Olufunmilayo I. Olsson, Hakan Olswold, Curtis and O'Malley, David M. Ong, Kai-ren Onland-Moret, N. Charlotte and Orr, Nicholas Orsulic, Sandra Osorio, Ana Palli, Domenico Papi, Laura Park-Simon, Tjoung-Won Paul, James and Pearce, Celeste L. Pedersen, Inge Sokilde Peeters, Petra H. M. and Peissel, Bernard Peixoto, Ana Pejovic, Tanja Pelttari, Liisa M. Permuth, Jennifer B. Peterlongo, Paolo Pezzani, Lidia Pfeiler, Georg Phillips, Kelly-Anne Piedmonte, Marion and Pike, Malcolm C. Piskorz, Anna M. Poblete, Samantha R. and Pocza, Timea Poole, Elizabeth M. Poppe, Bruce Porteous, Mary E. Prieur, Fabienne Prokofyeva, Darya Pugh, Elizabeth and Pujana, Miquel Angel Pujol, Pascal Radice, Paolo Rantala, Johanna Rappaport-Fuerhauser, Christine Rennert, Gad Rhiem, Kerstin Rice, Patricia Richardson, Andrea Robson, Mark and Rodriguez, Gustavo C. Rodriguez-Antona, Cristina Romm, Jane and Rookus, Matti A. Rossing, Mary Anne Rothstein, Joseph H. and Rudolph, Anja Runnebaum, Ingo B. Salvesen, Helga B. Sandler, Dale P. Schoemaker, Minouk J. Senter, Leigha Setiawan, V. Wendy Severi, Gianluca Sharma, Priyanka Shelford, Tameka and Siddiqui, Nadeem Side, Lucy E. Sieh, Weiva Singer, Christian F. Sobol, Hagay Song, Honglin Southey, Melissa C. and Spurdle, Amanda B. Stadler, Zsofia Steinemann, Doris and Stoppa-Lyonnet, Dominique Sucheston-Campbell, Lara E. and Sukiennicki, Grzegorz Sutphen, Rebecca Sutter, Christian and Swerdlow, Anthony J. Szabo, Csilla I. Szafron, Lukasz Tan, Yen Y. Taylor, Jack A. Tea, Muy-Kheng Teixeira, Manuel R. and Teo, Soo-Hwang Terry, Kathryn L. Thompson, Pamela J. and Thomsen, Liv Cecilie Vestrheim Thull, Darcy L. Tihomirova, Laima and Tinker, Anna V. Tischkowitz, Marc Tognazzo, Silvia and Toland, Amanda Ewart Tone, Alicia Trabert, Britton Travis, Ruth C. Trichopoulou, Antonia Tung, Nadine Tworoger, Shelley S. Van Altena, Anne M. Van den Berg, David van der Hout, Annemarie H. van der Luijt, Rob B. Van Heetvelde, Mattias and Van Nieuwenhuysen, Els Van Rensburg, Elizabeth J. and Vanderstichele, Adriaan Varon-Mateeva, Raymonda Vega, Ana and Edwards, Digna Velez Vergote, Ignace Vierkant, Robert A. and Vijai, Joseph Vratimos, Athanassios Walker, Lisa Walsh, Christine Wand, Dorothea Wang-Gohrke, Shan Wappenschmidt, Barbara Webb, Penelope M. Weinberg, Clarice R. Weitzel, Jeffrey N. Wentzensen, Nicolas Whittemore, Alice S. Wijnen, Juul T. Wilkens, Lynne R. Wolk, Alicja Woo, Michelle Wu, Xifeng Wu, Anna H. Yang, Hannah Yannoukakos, Drakoulis and Ziogas, Argyrios Zorn, Kristin K. Narod, Steven A. Easton, Douglas F. Amos, Christopher I. Schildkraut, Joellen M. and Ramus, Susan J. Ottini, Laura Goodman, Marc T. Park-, Sue K. and Kelemen, Linda E. Risch, Harvey A. Thomassen, Mads and Offit, Kenneth Simard, Jacques Schmutzler, Rita Katharina and Hazelett, Dennis Monteiro, Alvaro N. Couch, Fergus J. and Berchuck, Andrew Chenevix-Trench, Georgia Goode, Ellen L. and Sellers, Thomas A. Gayther, Simon A. Antoniou, Antonis C. and Pharoah, Paul D. P. AOCS Study Grp EMEMBRACE Study GEMO Study Collaborators HEBON Study KConFab Investigators OPAL Study Grp
Subjects: endocrine system diseases, female genital diseases and pregnancy complications
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Published: 2017

8. Additional file 1: Table S1. of Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Author: Rebbeck, Timothy, Friebel, Tara, Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene, Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu, Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra, Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen, Couch, Fergus, Cybulski, Cezary, Daly, Mary, Hoya, Miguel De La, Diez, Orland, Domchek, Susan, Nathanson, Katherine, Durda, Katarzyna, Ellis, Steve, D. Evans, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia, Garber, Judy, Gord Glendon, Godwin, Andrew, Greene, Mark, Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas, Imyanitov, Evgeny, Isaacs, Claudine, Jakubowska, Anna, Ramunas Janavicius, Jaworska-Bieniek, Katarzyna, John, Esther, Karlan, Beth, Kaufman, Bella, KConFab Investigators, Kwong, Ava, Laitman, Yael, Lasset, Christine, Conxi Lazaro, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert, Offit, Kenneth, Olah, Edith, Olufunmilayo Olopade, Park, Sue, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti, Seynaeve, Caroline, Simard, Jacques, Singer, Christian, Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla, Tancredi, Mariella, Teixeira, Manuel, Soo-Hwang Teo, Terry, Mary, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda, Toloczko-Grabarek, Aleksandra, Tung, Nadine, Rensburg, Elizabeth Van, Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey, Zidan, Jamal, Zorn, Kristin, McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ramus, Susan
Abstract: Ethics committees that granted approval for the access and use of the data for this study. Table S2. Participant counts by center and mutation. Table S3. Primers used for PCR and Sanger sequencing. Table S4. Primers used in micro-satellite analysis for loss of heterozygosity. Table S5. Micro-satellite loss of heterozygosity and sequencing analysis results. (DOC 177 kb)
Published: 2016
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9. Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

Author: Tan, Yen Yen, primary, Muhr, Daniela, additional, Rappaport-Fuerhauser, Christine, additional, Gschwantler-Kaulich, Daphne, additional, Grimm, Christoph, additional, Polterauer, Stephan, additional, Pfeiler, Georg, additional, Berger, Andreas, additional, Tea, Muy-Kheng Maria, additional, and Singer, Christian F., additional
Published: 2017
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10. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Author: Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, Simard, Jacques, Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet G E M, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen B M, Clarke, Christine L, Conner, Thomas, Conroy, Don M, Cook, Jackie, Cordina-Duverger, Emilie, Cornelissen, Sten, Coupier, Isabelle, Cox, Angela, Cox, David G, Cross, Simon S, Cuk, Katarina, Cunningham, Julie M, Czene, Kamila, Daly, Mary B, Damiola, Francesca, Darabi, Hatef, Davidson, Rosemarie, De Leeneer, Kim, Devilee, Peter, Dicks, Ed, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Doheny, Kimberly F, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dubois, Stéphane, Dugué, Pierre-Antoine, Dumont, Martine, Dunning, Alison M, Durcan, Lorraine, Dwek, Miriam, Dworniczak, Bernd, Eccles, Diana, Eeles, Ros, Ehrencrona, Hans, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Faivre, Laurence, Fasching, Peter A, Faust, Ulrike, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foulkes, William D, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gabrielson, Marike, Gaddam, Pragna, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Garcia-Barberan, Vanesa, García-Sáenz, José A, Gaudet, Mia M, Gauthier-Villars, Marion, Gehrig, Andrea, Georgoulias, Vassilios, Gerdes, Anne-Marie, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Goodfellow, Paul, Greene, Mark H, Alnæs, Grethe I Grenaker, Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Gschwantler-Kaulich, Daphne, Guénel, Pascal, Guo, Qi, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hallberg, Emily, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Hansen, Thomas V O, Harrington, Patricia, Hart, Steven N, Hartikainen, Jaana M, Healey, Catherine S, Hein, Alexander, Helbig, Sonja, Henderson, Alex, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Hodgson, Shirley, Hogervorst, Frans B, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Bob, Hopper, John L, Hu, Chunling, Huang, Guanmengqian, Hulick, Peter J, Humphreys, Keith, Hunter, David J, Imyanitov, Evgeny N, Isaacs, Claudine, Iwasaki, Motoki, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, Jensen, Uffe Birk, John, Esther M, Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kast, Karin, Keeman, Renske, Kerin, Michael J, Kets, Carolien M, Keupers, Machteld, Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I, Kim, Sung-Won, Knight, Julia A, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela N, Kruse, Torben A, Kwong, Ava, Lænkholm, Anne-Vibeke, Laitman, Yael, Lalloo, Fiona, Lambrechts, Diether, Landsman, Keren, Lasset, Christine, Lazaro, Conxi, Le Marchand, Loic, Lecarpentier, Julie, Lee, Andrew, Lee, Eunjung, Lee, Jong Won, Lee, Min Hyuk, Lejbkowicz, Flavio, Lesueur, Fabienne, Li, Jingmei, Lilyquist, Jenna, Lincoln, Anne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Loud, Jennifer T, Lubinski, Jan, Luccarini, Craig, Lush, Michael, MacInnis, Robert J, Maishman, Tom, Makalic, Enes, Kostovska, Ivana Maleva, Malone, Kathleen E, Manoukian, Siranoush, Manson, JoAnn E, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, Mazoyer, Sylvie, McLean, Catriona, Meijers-Heijboer, Hanne, Menéndez, Primitiva, Meyer, Jeffery, Miao, Hui, Miller, Austin, Miller, Nicola, Mitchell, Gillian, Montagna, Marco, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Nadesan, Sue, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nevelsteen, Ines, Niederacher, Dieter, Nielsen, Sune F, Nordestgaard, Børge G, Norman, Aaron, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Olswold, Curtis, Ong, Kai-Ren, Oosterwijk, Jan C, Orr, Nick, Osorio, Ana, Pankratz, V Shane, Papi, Laura, Park-Simon, Tjoung-Won, Paulsson-Karlsson, Ylva, Lloyd, Rachel, Pedersen, Inge Søkilde, Peissel, Bernard, Peixoto, Ana, Perez, Jose I A, Peterlongo, Paolo, Peto, Julian, Pfeiler, Georg, Phelan, Catherine M, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Porteous, Mary E, Prentice, Ross, Presneau, Nadege, Prokofieva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Rhiem, Kerstin, Richardson, Andrea, Rodriguez, Gustavo C, Romero, Atocha, Romm, Jane, Rookus, Matti A, Rudolph, Anja, Ruediger, Thomas, Saloustros, Emmanouil, Sanders, Joyce, Sandler, Dale P, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Daniel F, Schoemaker, Minouk J, Schumacher, Fredrick, Schürmann, Peter, Schwentner, Lukas, Scott, Christopher, Scott, Rodney J, Seal, Sheila, Senter, Leigha, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Xin, Shimelis, Hermela, Shrubsole, Martha J, Shu, Xiao-Ou, Side, Lucy E, Singer, Christian F, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Spurdle, Amanda B, Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Surowy, Harald, Sutter, Christian, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla M, Tan, Yen Y, Taylor, Jack A, Tejada, Maria-Isabel, Tengström, Maria, Teo, Soo H, Terry, Mary B, Tessier, Daniel C, Teulé, Alex, Thöne, Kathrin, Thull, Darcy L, Tibiletti, Maria Grazia, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob A E M, Tomlinson, Ian, Tong, Ling, Torres, Diana, Tranchant, Martine, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tyrer, Jonathan, Ulmer, Hans-Ulrich, Vachon, Celine, van Asperen, Christi J, Van Den Berg, David, van den Ouweland, Ans M W, van Rensburg, Elizabeth J, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Viel, Alessandra, Vijai, Joseph, Vincent, Daniel, Vollenweider, Jason, Walker, Lisa, Wang, Zhaoming, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wendt, Camilla, Wesseling, Jelle, Whittemore, Alice S, Wijnen, Juul T, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Xia, Lucy, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zaffaroni, Daniela, Zheng, Wei, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Zorn, Kristin K, Gago-Dominguez, Manuela, Mannermaa, Arto, Olsson, Håkan, Teixeira, Manuel R, Stone, Jennifer, Offit, Kenneth, Ottini, Laura, Park, Sue K, Thomassen, Mads, Hall, Per, Meindl, Alfons, Schmutzler, Rita K, Droit, Arnaud, Bader, Gary D, Pharoah, Paul D P, Couch, Fergus J, Easton, Douglas F, Kraft, Peter, Chenevix-Trench, Georgia, García-Closas, Montserrat, Schmidt, Marjanka K, Antoniou, Antonis C, and Simard, Jacques
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
Published: 2017
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11. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression

Author: University of Helsinki, Medicum, University of Helsinki, Department of Obstetrics and Gynecology, Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemacon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maite, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sonderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teule, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques, EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, University of Helsinki, Medicum, University of Helsinki, Department of Obstetrics and Gynecology, Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemacon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maite, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sonderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teule, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques, EMBRACE, GEMO Study Collaborators, HEBON, and KConFab Investigators
Abstract: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of similar to 320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 x 10(-6)). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
Published: 2017

12. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author: Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. A. G., May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N., McGuire, Valerie, McLaughlin, John R., McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Merritt, Melissa A., Milne, Roger L., Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L., Nedergaard, Lotte, Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Hakan, Olswold, Curtis, O'Malley, David M., Ong, Kai-ren, Onland-Moret, N. Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peeters, Petra H. M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., Pharoah, Paul D. P., Phelan, Catherine M., Kuchenbaecker, Karoline B., Tyrer, Jonathan P., Kar, Siddhartha P., Lawrenson, Kate, Winham, Stacey J., Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J., Chornokur, Ganna, Earp, Madalene A., Lyra, Paulo C., Jr., Lee, Janet M., Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M., Aben, Katja K. H., Adams, Marcia, Adlard, Julian, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K., Arver, Brita, Azzollini, Jacopo, Balmana, Judith, Banerjee, Susana N., Barjhoux, Laure, Barkardottir, Rosa B., Bean, Yukie, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Birrer, Michael J., Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J., Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Ake, Bradbury, Angela R., Brenton, James D., Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Carney, Michael E., Cescon, Terence, Chan, Salina B., Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Conner, Thomas, Cook, Linda S., Cook, Jackie, Cramer, Daniel W., Cunningham, Julie M., D'Aloisio, Aimee A., Daly, Mary B., Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F., Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M., Dorfling, Cecilia M., Dork, Thilo, Dossus, Laure, Duran, Mercedes, Durst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H., Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M., Fogarty, Zachary C., Fortner, Renee T., Fostira, Florentia, Foulkes, William D., Fountzilas, George, Fridley, Brooke L., Friebel, Tara M., Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia, Maria J., Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Goranova, Teodora, Gore, Martin, Greene, Mark H., Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harrington, Patricia A., Harris, Holly R., Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hodgson, Shirley, Hogdall, Claus K., Hogdall, Estrid, Hogervorst, Frans B. L., Holland, Helene, Hooning, Maartje J., Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J., Hung, Jillian, Hunter, David J., Huntsman, David G., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Iversen, Edwin S., Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M., Johnatty, Sharon, Jones, Michael E., Kannisto, Paivi, Karlan, Beth Y., Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kiiski, Johanna I., Kim, Sung-Won, Kjaer, Susanne K., Kobel, Martin, Kopperud, Reidun K., Kruse, Torben A., Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larranaga, Nerea, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B., Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H., Lubinski, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L., Mendoza-Fandino, Gustavo, Manoukian, Siranoush, Massuger, Leon F. A. G., May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N., McGuire, Valerie, McLaughlin, John R., McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Merritt, Melissa A., Milne, Roger L., Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L., Nedergaard, Lotte, Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Hakan, Olswold, Curtis, O'Malley, David M., Ong, Kai-ren, Onland-Moret, N. Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peeters, Petra H. M., Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Permuth, Jennifer B., Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Piskorz, Anna M., Poblete, Samantha R., Pocza, Timea, Poole, Elizabeth M., Poppe, Bruce, Porteous, Mary E., Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rodriguez-Antona, Cristina, Romm, Jane, Rookus, Matti A., Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo B., Salvesen, Helga B., Sandler, Dale P., Schoemaker, Minouk J., Senter, Leigha, Setiawan, V. Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E., Sieh, Weiva, Singer, Christian F., Sobol, Hagay, Song, Honglin, Southey, Melissa C., Spurdle, Amanda B., Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E., Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J., Szabo, Csilla I., Szafron, Lukasz, Tan, Yen Y., Taylor, Jack A., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Kathryn L., Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tihomirova, Laima, Tinker, Anna V., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C., Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S., Van Altena, Anne M., Van den Berg, David, van der Hout, Annemarie H., van der Luijt, Rob B., Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, Van Rensburg, Elizabeth J., Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wijnen, Juul T., Wilkens, Lynne R., Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H., Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K., Narod, Steven A., Easton, Douglas F., Amos, Christopher I., Schildkraut, Joellen M., Ramus, Susan J., Ottini, Laura, Goodman, Marc T., Park-, Sue K., Kelemen, Linda E., Risch, Harvey A., Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N., Couch, Fergus J., Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L., Sellers, Thomas A., Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
Abstract: To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Published: 2017

13. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Author: University of Helsinki, Department of Obstetrics and Gynecology, Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., Ramus, Susan J., EMBRACE, HEBON, KConFab Investigators, University of Helsinki, Department of Obstetrics and Gynecology, Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., Ramus, Susan J., EMBRACE, HEBON, and KConFab Investigators
Abstract: Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p <0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p <0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.
Published: 2016

14. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Author: Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., Ramus, Susan J., Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., and Ramus, Susan J.
Abstract: Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). Cases were defined as TH, and controls were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 controls carried a BRCA1 mutation found in the TH case. Matched SH2 controls carried a BRCA2 mutation found in the TH case. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.
Published: 2016

15. Male breast cancer in BRCA1 and BRCA2 mutation carriers:pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Gerdes, Anne-Marie, Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, and Gerdes, Anne-Marie
Abstract: BACKGROUND: BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).METHODS: We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.RESULTS: Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).CONCLUSIONS: On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.
Published: 2016

16. Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers

Author: Rieder, Viktoria, primary, Salama, Mohamed, additional, Glöckner, Lena, additional, Muhr, Daniela, additional, Berger, Andreas, additional, Tea, Muy-Kheng, additional, Pfeiler, Georg, additional, Rappaport-Fuerhauser, Christine, additional, Gschwantler-Kaulich, Daphne, additional, Weingartshofer, Sigrid, additional, and Singer, Christian F, additional
Published: 2015
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17. Effect of reproductive factors and lifestyle on the onset of breast cancer in female BRCA 1 and 2 mutation carriers.

Author: Singer, Christian F., primary, Rieder, Viktoria, additional, Salama, Mohamed, additional, Gloeckner, Lena, additional, Muhr, Daniela, additional, Berger, Andreas, additional, Tea, Muy-Kheng Maria, additional, Pfeiler, Georg, additional, Rappaport-Fuerhauser, Christine, additional, Gschwantler-Kaulich, Daphne, additional, and Weingartshofer, Sigrid, additional
Published: 2014
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18. Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers.

Author: Rieder, Viktoria, Salama, Mohamed, Glöckner, Lena, Muhr, Daniela, Berger, Andreas, Tea, Muy‐Kheng, Pfeiler, Georg, Rappaport‐Fuerhauser, Christine, Gschwantler‐Kaulich, Daphne, Weingartshofer, Sigrid, and Singer, Christian F
Subjects: BREAST cancer, LIFESTYLES, BRCA genes, GENETIC mutation, ORAL contraceptives, REGRESSION analysis, LOG-rank test
Abstract: Background The birth year-dependent onset of breast cancer ( BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. Methods Cox regression analysis and log-Rank testing were used to estimate the effect of potential life style factors on the onset of BC in 197 BRCA mutation carriers. Results Nulliparous BRCA mutation carriers developed BC earlier than those who had delivered (36.4 vs. 40.9; P = 0.001). Similarly, smokers and women who had used oral contraceptives experienced an earlier cancer onset (39.0 vs. 41.4; P = 0.05 and 39.3 vs. 44.9; P = 0.0001, respectively). In multivariate analysis, oral contraceptive use ( HR: 1.7; P = 0.006) and birth cohort (< vs. ≥1965 HR: 4.5; P = 0.001) were associated with an earlier BC onset, while previous pregnancies led to a delay ( HR: 0.2; P = 0.04). Mutation carriers born ≥1965 were less likely to have experienced pregnancies and more likely to have used oral contraceptives, and consequently developed BC at an earlier age (median age: 42 vs. 58; P < 0.0001 log-Rank test). Conclusion We here demonstrate that in BRCA1/2 mutation carriers the birth cohort-associated differences in the onset of BC are profound and influenced by reproductive factors. [ABSTRACT FROM AUTHOR]
Published: 2016
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19. Cytosine 5-Hydroxymethylation of the LZTS1Gene Is Reduced in Breast Cancer

Author: Matthias, Wielscher, Liou, Willy, Pulverer, Walter, Singer, Christian F., Rappaport-Fuerhauser, Christine, Kandioler, Daniela, Egger, Gerda, and Weinhäusel, Andreas
Abstract: Change of DNA cytosine methylation (5mC) is an early event in the development of cancer, and the recent discovery of a 5-hydroxymethylated form (5hmC) of cytosine suggests a regulatory epigenetic role that might be different from 5-methylcytosine. Here, we aimed at elucidating the role of 5hmC in breast cancer. To interrogate the 5hmC levels of the leucine zipper, putative tumor suppressor 1(LZTS1) gene in detail, we analyzed 75 primary breast cancer tissue samples from initial diagnosis and 12 normal breast tissue samples derived from healthy persons. Samples were subjected to 5hmC glucosyltransferase treatment followed by restriction digestion and segment-specific amplification of 11 polymerase chain reaction products. Nine of the 11 5′LZTS1fragments showed significantly lower (fold change of 1.61–6.01, P< .05) 5hmC content in primary breast cancer tissue compared to normal breast tissue samples. No significant differences were observed for 5mC DNA methylation. Furthermore, both LZTS1and TET1 mRNA expressions were significantly reduced in tumor samples (n= 75, P< .001, Student's ttest), which correlated significantly with 5hmC levels in samples. 5hmC levels in breast cancer tissues were associated with unfavorable histopathologic parameters such as lymph node involvement (P< .05, Student's ttest). A decrease of 5hmC levels of LZTS1, a classic tumor suppressor gene known to influence metastasis in breast cancer progression, is correlated to down-regulation of LZTS1mRNA expression in breast cancer and might epigenetically enhance carcinogenesis. The study provides support for the novel hypothesis that suggests a strong influence of 5hmC on mRNA expression. Finally, one may also consider 5hmC as a new biomarker.
Published: 2013
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20. Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: endocrine system diseases, skin and connective tissue diseases, neoplasms, female genital diseases and pregnancy complications, 3. Good health
Abstract: Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

21. Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: 3. Good health
Abstract: List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

22. Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: 3. Good health
Abstract: Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

23. Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: polycyclic compounds, bacteria, biochemical phenomena, metabolism, and nutrition, bacterial infections and mycoses, skin and connective tissue diseases, 3. Good health
Abstract: Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

24. Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: endocrine system diseases, polycyclic compounds, skin and connective tissue diseases, neoplasms, female genital diseases and pregnancy complications, 3. Good health
Abstract: Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

25. Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: endocrine system diseases, skin and connective tissue diseases, 3. Good health
Abstract: Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

26. Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: endocrine system diseases, polycyclic compounds, skin and connective tissue diseases, neoplasms, female genital diseases and pregnancy complications, 3. Good health
Abstract: Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

27. Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: 3. Good health
Abstract: Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

28. Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: polycyclic compounds, bacteria, biochemical phenomena, metabolism, and nutrition, bacterial infections and mycoses, skin and connective tissue diseases, 3. Good health
Abstract: Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

29. Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: endocrine system diseases, skin and connective tissue diseases, neoplasms, female genital diseases and pregnancy complications, 3. Good health
Abstract: Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

30. Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna, Neuhausen, Susan, Fox, Stephen, Karlan, Beth, Mitchell, Gillian, James, Paul, Thull, Darcy, Zorn, Kristin, Carter, Natalie, Nathanson, Katherine, Domchek, Susan, Rebbeck, Timothy, Ramus, Susan, Nussbaum, Robert, Olufunmilayo Olopade, Rantala, Johanna, Sook-Yee Yoon, Caligo, Maria, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge, Thomassen, Mads, Jensen, Uffe, Toland, Amanda, Leigha Senter, Andrulis, Irene, Gord Glendon, Hulick, Peter, Imyanitov, Evgeny, Greene, Mark, Mai, Phuong, Singer, Christian, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus, Hallberg, Emily, Ruddy, Kathryn, Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Adalgeir Arason, Johannsson, Oskar, Barkardottir, Rosa, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel, BalmaĂąa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomĂ¤Ki, Kristiina, Segura, Pedro Perez, Caldes, Trinidad, Maerken, Tom Van, Poppe, Bruce, Claes, Kathleen, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Raymonda Varon-Mateeva, Wand, Dorothea, Godwin, Andrew, D. Evans, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey, Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas, Steele, Linda, Ding, Yuan, Tung, Nadine, Ramunas Janavicius, Goldgar, David, Buys, Saundra, Daly, Mary, Bane, Anita, Terry, Mary, John, Esther, Southey, Melissa, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis, and Ottini, Laura
Subjects: 3. Good health
Abstract: List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

31. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Author: Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B, Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J, Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R, Brewer, Carole, Buecher, Bruno, Buys, Saundra S, Caligo, Maria A, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, De La Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M, Dorfling, Cecilia M, Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Gareth Evans, D, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A, Garber, Judy, Gayther, Simon A, GEMO Study Collaborators, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hart, Steven, Hays, John L, HEBON, Hogervorst, Frans BL, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y, KConFab Investigators, Kets, Carolien M, Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T, Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nussbaum, Robert L, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Oosterwijk, Jan C, Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rookus, Matti A, Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D, Singer, Christian F, Slavin, Thomas P, Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B, Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R, Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, Van Den Ouweland, Ans MW, Van Der Luijt, Rob B, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T, Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J, Nord, Silje, Easton, Douglas F, Antoniou, Antonis C, and Simard, Jacques
Subjects: Genetic modifiers, Risk, Heterozygote, Chromosomes, Human, Pair 11, Genes, BRCA2, Quantitative Trait Loci, BRCA1 and BRCA2 mutation carriers, Genes, BRCA1, Gene Expression, Genetic Variation, Breast Neoplasms, 3. Good health, Breast cancer, Mutation, Genetic susceptibility, Biomarkers, Tumor, Humans, Cis-regulatory variants, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, Differential allelic expression, Alleles
Abstract: PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. CONCLUSION: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.

32. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Silvestri, Barrowdale, V., DMulligan A. M., C, dEmail, Author, Neuhausen, eEmail Author, S. L., Fox, fEmail Author, S., Karlan, gEmail Author, B. Y., Mitchell G., H, iEmail, Author, James P., H, Thull, jEmail Author, D. L., Zorn, jEmail Author, K. K., Carter, kEmail Author, N. J., Nathanson, lEmail Author, K. L., Domchek, lEmail Author, S. M., Rebbeck, mEmail Author, T. R., Ramus, nEmail Author, S. J., Nussbaum, oEmail Author, R. L., Olopade, pEmail Author, O. I., Rantala, qEmail Author, J., Yoon, S. -Y., R, sEmail, Author, Caligo, tEmail Author, M. A., Spugnesi, tEmail Author, L., Bojesen, uEmail Author, A., Pedersen, vEmail Author, I. S., Thomassen, wEmail Author, M., Jensen, xEmail Author, U. B., Toland, yEmail Author, A. E., Senter, zEmail Author, L., Andrulis I. L., D, abEmail, Author, Glendon, aaEmail Author, G., Hulick, acEmail Author, P. J., Imyanitov, adEmail Author, E. N., Greene, aeEmail Author, M. H., Mai, aeEmail Author, P. L., Singer, afEmail Author, C. F., Rappaport-Fuerhauser, afEmail Author, C., Kramer, agEmail Author, G., Vijai, ahEmail Author, J., Offit, ahEmail Author, K., Robson, aiEmail Author, M., Lincoln, ahEmail Author, A., Jacobs, ahEmail Author, L., Machackova, ajEmail Author, E., Foretova, akEmail Author, L., Navratilova, ajEmail Author, M., Vasickova, ajEmail Author, P., Couch, F. J., Al, amEmail, Author, Hallberg, amEmail Author, E., Ruddy, anEmail Author, K. J., Sharma, aoEmail Author, P., Kim, apEmail Author, S. -W., Teixeira, M. R., Aq, arEmail, Author, Pinto, aqEmail Author, P., Montagna, asEmail Author, M., Matricardi, asEmail Author, L., Arason, atEmail Author, A., Johannsson, auEmail Author, O. T., Barkardottir, atEmail Author, R. B., Jakubowska, avEmail Author, A., Lubinski, avEmail Author, J., Izquierdo, awEmail Author, A., Pujana, axEmail Author, M. A., Balmaña, ayEmail Author, J., Diez, azEmail Author, O., Ivady, baEmail Author, G., Papp, bbEmail Author, J., Olah, bbEmail Author, E., Kwong, Bc, A., bdEmail, Author, Nevanlinna, beEmail Author, H., Aittomäki, bfEmail Author, K., Perez, Segura, bgEmail Author, P., Caldes, bhEmail Author, T., Van, Maerken, biEmail Author, T., Poppe, biEmail Author, B., Claes, biEmail Author, K. B. M., Isaacs, bjEmail Author, C., Elan, bkEmail Author, C., Lasset, Bl, C., bmEmail, Author, Stoppa-Lyonnet, Bk, D., bnEmail, Author, Barjhoux, boEmail Author, L., Belotti, bkEmail Author, M., Meindl, bpEmail Author, A., Gehrig, bqEmail Author, A., Sutter, brEmail Author, C., Engel, bsEmail Author, C., Niederacher, btEmail Author, D., Steinemann, buEmail Author, D., Hahnen, bvEmail Author, E., Kast, bwEmail Author, K., Arnold, bxEmail Author, N., Varon-Mateeva, byEmail Author, R., Wand, bzEmail Author, D., Godwin, caEmail Author, A. K., Evans, cbEmail Author, D. G., Frost, bEmail Author, D., Perkins, bEmail Author, J., Adlard, ccEmail Author, J., Izatt, cdEmail Author, L., Platte, ceEmail Author, R., Eeles, cfEmail Author, R., Ellis, bEmail Author, S., Hamann, cfEmail Author, U., Garber, cgEmail Author, J., Fostira, chEmail Author, F., Fountzilas, ciEmail Author, G., Pasini, Cj, B., ckEmail, Author, Giannini, aEmail Author, G., Rizzolo, aEmail Author, P., Russo, clEmail Author, A., Cortesi, cmEmail Author, L., Papi, Laura, cnEmail Author, L., Varesco, coEmail Author, L., Palli, cpEmail Author, D., Zanna, cpEmail Author, I., Savarese, cqEmail Author, A., Radice, crEmail Author, P., Manoukian, csEmail Author, S., Peissel, csEmail Author, B., Barile, ctEmail Author, M., Bonanni, ctEmail Author, B., Viel, cuEmail Author, A., Pensotti, Cv, V., cwEmail, Author, Tommasi, cxEmail Author, S., Peterlongo, cvEmail Author, P., Weitzel, cyEmail Author, J. N., Osorio, Cz, A., daEmail, Author, Benitez, Da, J., dcEmail, Author, McGuffog, bEmail Author, L., Healey, ddEmail Author, S., Gerdes, deEmail Author, A. -M., Ejlertsen, dfEmail Author, B., Hansen, dgEmail Author, T. V. O., Steele, eEmail Author, L., Ding, eEmail Author, Y. C., Tung, dhEmail Author, N., Janavicius, diEmail Author, R., Goldgar, djEmail Author, D. E., Buys, dkEmail Author, S. S., Daly, dlEmail Author, M. B., Bane, dmEmail Author, A., Terry, dnEmail Author, M. B., John, doEmail Author, E. M., Southey, dpEmail Author, M., Easton, bEmail Author, D. F., Chenevix-Trench, ddEmail Author, G., Antoniou, bEmail Author, A. C., Ottini, Papi, L, Pathology, Department of Obstetrics and Gynecology, Clinicum, Medicum, Department of Medical and Clinical Genetics, Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L., Fox, Stephen, Karlan, Beth Y., Mitchell, Gillian, James, Paul, Thull, Darcy L., Zorn, Kristin K., Carter, Natalie J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Ramus, Susan J., Nussbaum, Robert L., Olopade, Olufunmilayo I., Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A., Spugnesi, Laura, Bojesen, Ander, Pedersen, Inge Sokilde, Thomassen, Mad, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L., Glendon, Gord, Hulick, Peter J., Imyanitov, Evgeny N., Greene, Mark H., Mai, Phuong L., Singer, Christian F., Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J., Hallberg, Emily, Ruddy, Kathryn J., Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel R., Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Jano, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B.M., Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfon, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Dori, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K., Evans, D.Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ro, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ine, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey N., Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas V.O., Steele, Linda, Ding, Yuan Chun, Tung, Nadine, Janavicius, Ramuna, Goldgar, David E., Buys, Saundra S., Daly, Mary B., Bane, Anita, Terry, Mary Beth, John, Esther M., Southey, Melissa, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., and Ottini, Laura
Subjects: Male, 0301 basic medicine, Genotype-phenotype correlation, Pathology, genotype-phenotype correlations, endocrine system diseases, Settore MED/06 - Oncologia Medica, FEATURES, male breast cancer, Genotype-phenotype correlations, Logistic regression, Histologic grade, 610 Medical sciences Medicine, Breast cancer, 0302 clinical medicine, Epidemiology, Medicine and Health Sciences, polycyclic compounds, skin and connective tissue diseases, POPULATION, RISK, education.field_of_study, BRCA1 Protein, Men, Single Nucleotide, Middle Aged, 3. Good health, GRADE, 030220 oncology & carcinogenesis, Male breast cancer, oncology, Female, Breast Neoplasm, Research Article, Human, Adult, medicine.medical_specialty, CARCINOMA, Genotype–phenotype correlations, 3122 Cancers, Population, Breast Neoplasms, BRCA1/2, histologic grade, pathology, cancer research, Male breast cancer, BRCA1, BRCA2, Polymorphism, Single Nucleotide, Càncer de mama, Breast Neoplasms, Male, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Journal Article, Carcinoma, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, education, Aged, Neoplasm Staging, BRCA2 Protein, business.industry, Odds ratio, medicine.disease, Confidence interval, 030104 developmental biology, ddc:161, Homes, Mutation, Oncology, Cancer Research, business
Abstract: Background BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database. Results Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10−5) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor–positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15–21.80] and progesterone receptor–positive (OR 5.04; 95 % CI 3.17–8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10−12). Conclusions On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. Electronic supplementary material The online version of this article (doi:10.1186/s13058-016-0671-y) contains supplementary material, which is available to authorized users.
Published: 2016
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32 results on '"Rappaport-Fuerhauser, Christine"'

1. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

2. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

3. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

4. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

5. Cytosine 5-Hydroxymethylation of the LZTS1 Gene Is Reduced in Breast Cancer

6. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

7. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

8. Additional file 1: Table S1. of Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

9. Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

10. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

11. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression

12. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

13. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

14. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

15. Male breast cancer in BRCA1 and BRCA2 mutation carriers:pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

16. Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers

17. Effect of reproductive factors and lifestyle on the onset of breast cancer in female BRCA 1 and 2 mutation carriers.

18. Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers.

19. Cytosine 5-Hydroxymethylation of the LZTS1Gene Is Reduced in Breast Cancer

20. Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

21. Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

22. Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

23. Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

24. Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

25. Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

26. Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

27. Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

28. Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

29. Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

30. Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

31. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

32. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

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32 results on '"Rappaport-Fuerhauser, Christine"'

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