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1. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Author

Meeks, Huong D., Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S., Hopper, John L., Southey, Melissa C., Tesoriero, Andrea, James, Paul A., Bruinsma, Fiona, Campbell, Ian G., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Beckman, Matthias W., Fasching, Peter A., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L., Poole, Elizabeth M., Tworoger, Shelley S., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Godwin, Andrew K., Guénel, Pascal, Truong, Thérèse, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M., Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E., Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V. O., Jensen, Allen, Kjaer, Susanne K., Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, González-Neira, Anna, Osorio, Ana, Hoya, Miguel de la, Segura, Pedro Perez, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M., Neuhausen, Susan L., Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N., Ganz, Patricia A., Nussbaum, Robert L., Chan, Salina B., Karlan, Beth Y., Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J., Sieh, Weiva, Whittermore, Alice S., Monteiro, Alvaro N. A., Phelan, Catherine M., Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B., Cannioto, Rikki, Olson, Sara H., Daly, Mary B., Nathanson, Katherine L., Domchek, Susan M., Lu, Karen H., Liang, Dong, Hildebrant, Michelle A. T., Ness, Roberta, Modugno, Francesmary, Pearce, Leigh, Goodman, Marc T., Thompson, Pamela J., Brenner, Hermann, Butterbach, Katja, Meindl, Alfons, Hahnen, Eric, Wappenschmidt, Barbara, Brauch, Hiltrud, Brüning, Thomas, Blomqvist, Carl, Khan, Sofia, Nevanlinna, Heli, Pelttari, Liisa M., Aittomäki, Kristiina, Butzow, Ralf, Bogdanova, Natalia V., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Rantala, Johanna, Kosma, Veli-Matti, Mannermaa, Arto, Lambrechts, Diether, Neven, Patrick, Claes, Kathleen B. M., Maerken, Tom Van, Chang-Claude, Jenny, Flesch-Janys, Dieter, Heitz, Florian, Varon-Mateeva, Raymonda, Peterlongo, Paolo, Radice, Paolo, Viel, Alessandra, Barile, Monica, Peissel, Bernard, Manoukian, Siranoush, Montagna, Marco, Oliani, Cristina, Peixoto, Ana, Teixeira, Manuel R., Collavoli, Anita, Hallberg, Emily, Olson, Janet E., Goode, Ellen L., Hart, Steven N., Shimelis, Hermela, Cunningham, Julie M., Giles, Graham G., Milne, Roger L., Healey, Sue, Tucker, Kathy, Haiman, Christopher A., Henderson, Brian E., Goldberg, Mark S., Tischkowitz, Marc, Simard, Jacques, Soucy, Penny, Eccles, Diana M., Le, Nhu, Borresen-Dale, Anne-Lise, Kristensen, Vessela, Salvesen, Helga B., Bjorge, Line, Bandera, Elisa V., Risch, Harvey, Zheng, Wei, Beeghly-Fadiel, Alicia, Cai, Hui, Pylkäs, Katri, Tollenaar, Robert A. E. M., Ouweland, Ans M. W. van der, Andrulis, Irene L., Knight, Julia A., Narod, Steven, Devilee, Peter, Winqvist, Robert, Figueroa, Jonine, Greene, Mark H., Mai, Phuong L., Loud, Jennifer T., García-Closas, Montserrat, Schoemaker, Minouk J., Czene, Kamila, Darabi, Hatef, McNeish, Iain, Siddiquil, Nadeem, Glasspool, Rosalind, Kwong, Ava, Park, Sue K., Teo, Soo Hwang, Yoon, Sook-Yee, Matsuo, Keitaro, Hosono, Satoyo, Woo, Yin Ling, Gao, Yu-Tang, Foretova, Lenka, Singer, Christian F., Rappaport-Feurhauser, Christine, Friedman, Eitan, Laitman, Yael, Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Olopade, Olufunmilayo I., Senter, Leigha, Olah, Edith, Doherty, Jennifer A., Schildkraut, Joellen, Koppert, Linetta B., Kiemeney, Lambertus A., Massuger, Leon F. A. G., Cook, Linda S., Pejovic, Tanja, Li, Jingmei, Borg, Ake, Öfverholm, Anna, Rossing, Mary Anne, Wentzensen, Nicolas, Henriksson, Karin, Cox, Angela, Cross, Simon S., Pasini, Barbara J., Shah, Mitul, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Agnarsson, Bjarni A., Kupryjanczyk, Jolanta, Moes-Sosnowska, Joanna, Fostira, Florentia, Konstantopoulou, Irene, Slager, Susan, Jones, Michael, Antoniou, Antonis C., Berchuck, Andrew, Swerdlow, Anthony, Chenevix-Trench, Georgia, Dunning, Alison M., Pharoah, Paul D. P., Hall, Per, Easton, Douglas F., Couch, Fergus J., Spurdle, Amanda B., and Goldgar, David E.

Published
2016
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2. MOESM1 of A recurrent and transesophageal echocardiography–associated outbreak of extended-spectrum β-lactamase–producing Enterobacter cloacae complex in cardiac surgery patients

Author

Maerken, Tom Van, Brabandere, Els De, Noël, Audrey, Coorevits, Liselotte, Waegemaeker, Pascal De, Ablorh, Raina, Bouchez, Stefaan, Herck, Ingrid, Harlinde Peperstraete, Bogaerts, Pierre, Verhasselt, Bruno, Glupczynski, Youri, Boelens, Jerina, and Leroux-Roels, Isabel

Abstract

Additional file 1: Table S1. Measures taken to control the outbreak of ESBL-producing E. cloacae complex in cardiac surgery patients. Figure S1. Monthly incidence rates of selected microorganisms at CSICU.

Published
2019
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3. Additional file 2: of Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Author

Annelot Baert, Depuydt, Julie, Maerken, Tom Van, Poppe, Bruce, Fransiska Malfait, Storm, Katrien, Ende, Jenneke Van Den, Damme, Tim Van, Nobele, Sylvia De, Perletti, Gianpaolo, Leeneer, Kim De, Claes, Kathleen, and Vral, Anne

Subjects
body regions, nervous system, fungi
Abstract

Results of the fragment analysis. Illustration of fragment analysis data of an SNP without loss of the mutant allele. (PDF 176 kb)

Published
2016
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4. Additional file 1: of Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Author

Annelot Baert, Depuydt, Julie, Maerken, Tom Van, Poppe, Bruce, Fransiska Malfait, Storm, Katrien, Ende, Jenneke Van Den, Damme, Tim Van, Nobele, Sylvia De, Perletti, Gianpaolo, Leeneer, Kim De, Claes, Kathleen, and Vral, Anne

Subjects
body regions, nervous system, fungi
Abstract

Primers. The primer sequences (both forward and reverse). (PDF 29 kb)

Published
2016
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5. Additional file 3: of Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Author

Annelot Baert, Depuydt, Julie, Maerken, Tom Van, Poppe, Bruce, Fransiska Malfait, Storm, Katrien, Ende, Jenneke Van Den, Damme, Tim Van, Nobele, Sylvia De, Perletti, Gianpaolo, Leeneer, Kim De, Claes, Kathleen, and Vral, Anne

Subjects
body regions, nervous system, fungi
Abstract

Results of the fragment analysis. Illustration of fragment analysis data of an SNP with loss of the mutant allele. (PDF 227 kb)

Published
2016
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6. Abstract 5815: The HBP1 tumor suppressor is a negative epigenetic regulator of MYCN driven neuroblastoma through interaction with the PRC2 complex

Author

Denecker, Geertrui, primary, Claeys, Shana, additional, Lambertz, Irina, additional, Janssens, Els, additional, Vanhauwaert, Suzanne, additional, Decaesteker, Bieke, additional, Maerken, Tom Van, additional, Wilde, Bram De, additional, Laureys, Genevieve, additional, Althoff, Kristina, additional, Schulte, Johannes, additional, Demoulin, Jean-Baptiste, additional, Roberts, Stephen S., additional, Bate-Eya, Laurel, additional, Molenaar, Jan J., additional, Westermann, Frank, additional, Preter, Katleen De, additional, and Speleman, Frank, additional

Published
2017
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8. Downregulation of MiR-449a Is Essential for the Survival of EVI1 Positive Leukemic Cells through Modulation of NOTCH1 and BCL2.

Author

Weer, An De, primary, Mestdagh, Pieter, additional, Preter, Katleen De, additional, Meulen, Joni Van der, additional, Vlierberghe, Pieter Van, additional, Maerken, Tom Van, additional, Roy, Nadine Van, additional, Jeison, Marta, additional, Yaniv, Isaac, additional, Cauwelier, Barbara, additional, Noens, Lucien, additional, Poirel, Hélène-Antoine, additional, Vandenberghe, Peter, additional, Lambert, Frédéric, additional, Paepe, Anne De, additional, Konrad, Torsten, additional, Wieser, Rotraud, additional, Sánchez, Maria García, additional, Odero, Maria, additional, Verhasselt, Bruno, additional, Philippé, Jan, additional, Vandesompele, Jo, additional, Dastugue, Nicole, additional, Poppe, Bruce, additional, and Speleman, Frank, additional

Published
2009
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9. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

10. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

11. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

12. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

13. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

14. Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

Author

Blanco, Ignacio, Kuchenbaecker, Karoline, Cuadras, Daniel, Wang, Xianshu, Barrowdale, Daniel, Garibay, Gorka Ruiz De, Librado, Pablo, Sánchez-Gracia, Alejandro, Rozas, Julio, Bonifaci, Núria, McGuffog, Lesley, Pankratz, Vernon S., Islam, Abul, Mateo, Francesca, Berenguer, Antoni, Petit, Anna, Català, Isabel, Brunet, Joan, Feliubadaló, Lidia, Tornero, Eva, Benítez, Javier, Osorio, Ana, Ramón Y Cajal, Teresa, Nevanlinna, Heli, Aittomäki, Kristiina, Arun, Banu K., Toland, Amanda E., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, Greene, Mark H., Mai, Phuong L., Nussbaum, Robert L., Andrulis, Irene L., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Barkardotti, Rosa B., Jakubowska, Anna, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Claes, Kathleen, Maerken, Tom Van, Díez, Orland, Hansen, Thomas V., Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, and Hoya, Miguel De La

Subjects
skin and connective tissue diseases, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, 3. Good health
Abstract

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 – 1.15, p = 1.9 x 10−4 (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 – 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted pinteraction values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients’ survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.

15. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

16. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

17. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

18. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

19. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

20. 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, Balmaùa, Judith, Diez, Orland, Ivady, Gabriella, Janos Papp, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, AittomäKi, 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)

21. Downregulation of MiR-449a Is Essential for the Survival of EVI1Positive Leukemic Cells through Modulation of NOTCH1and BCL2.

Author

Weer, An De, Mestdagh, Pieter, Preter, Katleen De, Meulen, Joni Van der, Vlierberghe, Pieter Van, Maerken, Tom Van, Roy, Nadine Van, Jeison, Marta, Yaniv, Isaac, Cauwelier, Barbara, Noens, Lucien, Poirel, Hélène-Antoine, Vandenberghe, Peter, Lambert, Frédéric, Paepe, Anne De, Konrad, Torsten, Wieser, Rotraud, Sánchez, Maria García, Odero, Maria, Verhasselt, Bruno, Philippé, Jan, Vandesompele, Jo, Dastugue, Nicole, Poppe, Bruce, and Speleman, Frank

Abstract

Abstract 361This icon denotes an abstract that is clinically relevant.

Published
2009
Full Text
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22. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Author

Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, James PA, Bruinsma F, Campbell IG, Broeks A, Schmidt MK, Hogervorst FB, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomäki K, Butzow R, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken TV, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira MR, Collavoli A, Hallberg E, Olson JE, Goode EL, Hart SN, Shimelis H, Cunningham JM, Giles GG, Milne RL, Healey S, Tucker K, Haiman CA, Henderson BE, Goldberg MS, Tischkowitz M, Simard J, Soucy P, Eccles DM, Le N, Borresen-Dale AL, Kristensen V, Salvesen HB, Bjorge L, Bandera EV, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar RA, Ouweland AM, Andrulis IL, Knight JA, Narod S, Devilee P, Winqvist R, Figueroa J, Greene MH, Mai PL, Loud JT, García-Closas M, Schoemaker MJ, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park SK, Teo SH, Yoon SY, Matsuo K, Hosono S, Woo YL, Gao YT, Foretova L, Singer CF, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov EN, Hulick PJ, Olopade OI, Senter L, Olah E, Doherty JA, Schildkraut J, Koppert LB, Kiemeney LA, Massuger LF, Cook LS, Pejovic T, Li J, Borg A, Öfverholm A, Rossing MA, Wentzensen N, Henriksson K, Cox A, Cross SS, Pasini BJ, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson BA, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, Antoniou AC, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning AM, Pharoah PD, Hall P, Easton DF, Couch FJ, Spurdle AB, and Goldgar DE

Subjects
Adult, Aged, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Logistic Models, Lysine genetics, Male, Middle Aged, Neoplasm Invasiveness, Odds Ratio, Ovarian Neoplasms pathology, Risk Assessment, Risk Factors, BRCA2 Protein genetics, Breast Neoplasms genetics, Codon, Terminator, Ovarian Neoplasms genetics, Polymorphism, Single Nucleotide, Prostatic Neoplasms genetics
Abstract

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers., Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided., Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10(-5) and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10(-5), respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed., Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations., (© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.)

Published
2015
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