Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

por Fostira, Florentia, Thodi, Georgia, Sandaltzopoulos, Raphael, Fountzilas, George, Yannoukakos, Drakoulis
Publicado 2010

A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype

por Fostira, Florentia, Tsoukalas, Nikolaos, Konstantopoulou, Irene, Georgoulias, Vassilios, Christophyllakis, Charalambos, Yannoukakos, Drakoulis
Publicado 2014

A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation

por Nikolaidi, Adamantia, Konstantopoulou, Irene, Pistalmantzian, Nikolaos, Fostira, Florentia, Yannoukakos, Drakoulis, Athanasiadis, Ilias
Publicado 2019

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families

por Thodi, Georgia, Fostira, Florentia, Sandaltzopoulos, Raphael, Nasioulas, George, Grivas, Anastasios, Boukovinas, Ioannis, Mylonaki, Maria, Panopoulos, Christos, Magic, Mirjana Brankovic, Fountzilas, George, Yannoukakos, Drakoulis
Publicado 2010

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer

por Belogianni, Ioulia, Apessos, Angela, Mihalatos, Markos, Razi, Evangelia, Labropoulos, Stefanos, Petounis, Andreas, Gaki, Vasiliki, Keramopoulos, Antonios, Pandis, Nikos, Kyriacou, Kyriacos, Hadjisavvas, Andreas, Kosmidis, Paris, Yannoukakos, Drakoulis, Nasioulas, Georgios
Publicado 2004

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

por Avgeris, Socratis, Fostira, Florentia, Vagena, Andromachi, Ninios, Yiannis, Delimitsou, Angeliki, Vodicka, Radek, Vrtel, Radek, Youroukos, Sotirios, Stravopodis, Dimitrios J., Vlassi, Metaxia, Astrinidis, Aristotelis, Yannoukakos, Drakoulis, Voutsinas, Gerassimos E.
Publicado 2017

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene

por Fostira, Florentia, Kostantopoulou, Irene, Apostolou, Paraskevi, Papamentzelopoulou, Myrto S, Papadimitriou, Christos, Faliakou, Eleni, Christodoulou, Christos, Boukovinas, Ioannis, Razis, Evangelia, Tryfonopoulos, Dimitrios, Barbounis, Vasileios, Vagena, Andromache, Vlachos, Ioannis S, Kalfakakou, Despoina, Fountzilas, George, Yannoukakos, Drakoulis
Publicado 2020

Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

por Stavropoulou, Alexandra V., Fostira, Florentia, Pertesi, Maroulio, Tsitlaidou, Marianthi, Voutsinas, Gerassimos E., Triantafyllidou, Olga, Bamias, Aristotelis, Dimopoulos, Meletios A., Timotheadou, Eleni, Pectasides, Dimitrios, Christodoulou, Christos, Klouvas, George, Papadimitriou, Christos, Makatsoris, Thomas, Pentheroudakis, George, Aravantinos, Gerasimos, Karydakis, Vassilis, Yannoukakos, Drakoulis, Fountzilas, George, Konstantopoulou, Irene
Publicado 2013

Correction: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

por Stavropoulou, Alexandra V., Fostira, Florentia, Pertesi, Maroulio, Tsitlaidou, Marianthi, Voutsinas, Gerassimos E., Triantafyllidou, Olga, Bamias, Aristotelis, Dimopoulos, Meletios A., Timotheadou, Eleni, Pectasides, Dimitrios, Christodoulou, Christos, Klouvas, George, Papadimitriou, Christos, Makatsoris, Thomas, Pentheroudakis, George, Aravantinos, Gerasimos, Karydakis, Vassilis, Yannoukakos, Drakoulis, Fountzilas, George, Konstantopoulou, Irene
Publicado 2013

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

por Shimelis, Hermela, LaDuca, Holly, Hu, Chunling, Hart, Steven N, Na, Jie, Thomas, Abigail, Akinhanmi, Margaret, Moore, Raymond M, Brauch, Hiltrud, Cox, Angela, Eccles, Diana M, Ewart-Toland, Amanda, Fasching, Peter A, Fostira, Florentia, Garber, Judy, Godwin, Andrew K, Konstantopoulou, Irene, Nevanlinna, Heli, Sharma, Priyanka, Yannoukakos, Drakoulis, Yao, Song, Feng, Bing-Jian, Tippin Davis, Brigette, Lilyquist, Jenna, Pesaran, Tina, Goldgar, David E, Polley, Eric C, Dolinsky, Jill S, Couch, Fergus J
Publicado 2018

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

por Muranen, Taru A., Khan, Sofia, Fagerholm, Rainer, Aittomäki, Kristiina, Cunningham, Julie M., Dennis, Joe, Leslie, Goska, McGuffog, Lesley, Parsons, Michael T., Simard, Jacques, Slager, Susan, Soucy, Penny, Easton, Douglas F., Tischkowitz, Marc, Spurdle, Amanda B., Schmutzler, Rita K., Wappenschmidt, Barbara, Hahnen, Eric, Hooning, Maartje J., Singer, Christian F., Wagner, Gabriel, Thomassen, Mads, Pedersen, Inge Sokilde, Domchek, Susan M., Nathanson, Katherine L., Lazaro, Conxi, Rossing, Caroline Maria, Andrulis, Irene L., Teixeira, Manuel R., James, Paul, Garber, Judy, Weitzel, Jeffrey N., Jakubowska, Anna, Yannoukakos, Drakoulis, John, Esther M., Southey, Melissa C., Schmidt, Marjanka K., Antoniou, Antonis C., Chenevix-Trench, Georgia, Blomqvist, Carl, Nevanlinna, Heli
Publicado 2020

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

por Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Consortium, ENIGMA, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, Rudaitis, Vilius, Santamariña, Marta, Santos, Catarina, Smichkoska, Snezhana, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Teixeira, Manuel, Törngren, Therese, Toss, Angela, Urioste, Miguel, Vega, Ana, Vlckova, Zdenka, Yannoukakos, Drakoulis, Zampiga, Valentina, Kleibl, Zdenek, Radice, Paolo, Nevanlinna, Heli, Ehrencrona, Hans, Janavicius, Ramunas, Peterlongo, Paolo
Publicado 2020

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

por O’Mahony, Denise G., Ramus, Susan J., Southey, Melissa C., Meagher, Nicola S., Hadjisavvas, Andreas, John, Esther M., Hamann, Ute, Imyanitov, Evgeny N., Andrulis, Irene L., Sharma, Priyanka, Daly, Mary B., Hake, Christopher R., Weitzel, Jeffrey N., Jakubowska, Anna, Godwin, Andrew K., Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A., Mai, Phuong L., Claes, Kathleen B. M., Teixeira, Manuel R., Chung, Wendy K., Lazaro, Conxi, Hulick, Peter J., Toland, Amanda E., Pedersen, Inge Sokilde, Neuhausen, Susan L., Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A., Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L., Domchek, Susan M., Osorio, Ana, García, María J., Karlan, Beth Y., De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T., Dörk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André B. A., Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K., Wappenschmidt, Barbara, Easton, Douglas F., Tischkowitz, Marc, Singer, Christian F., Tan, Yen Yen, Whittemore, Alice S., Sieh, Weiva, Brenton, James D., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Antoniou, Antonis C., Goldgar, David E., Spurdle, Amanda B., Michailidou, Kyriaki
Publicado 2023

RAD51B in Familial Breast Cancer

por Pelttari, Liisa M., Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I., Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V., Figueroa, Jonine, Pharoah, Paul D. P., Schmidt, Marjanka K., Dunning, Alison M., García-Closas, Montserrat, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L., Southey, Melissa C., Rosenberg, Efraim H., Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, dos-Santos-Silva, Isabel, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Surowy, Harald, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E., Nordestgaard, Børge G., Benitez, Javier, González-Neira, Anna, Neuhausen, Susan L., Anton-Culver, Hoda, Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Brüning, Thomas, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Hartikainen, Jaana M., Chenevix-Trench, Georgia, Van Dyck, Laurien, Janssen, Hilde, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Peterlongo, Paolo, Hallberg, Emily, Olson, Janet E., Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Schumacher, Fredrick, Simard, Jacques, Dumont, Martine, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Beeghly-Fadiel, Alicia, Grip, Mervi, Andrulis, Irene L., Glendon, Gord, Devilee, Peter, Seynaeve, Caroline, Hooning, Maartje J., Collée, Margriet, Cox, Angela, Cross, Simon S., Shah, Mitul, Luben, Robert N., Hamann, Ute, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Couch, Fergus J., Yannoukakos, Drakoulis, Orr, Nick, Swerdlow, Anthony, Darabi, Hatef, Li, Jingmei, Czene, Kamila, Hall, Per, Easton, Douglas F., Mattson, Johanna, Blomqvist, Carl, Aittomäki, Kristiina, Nevanlinna, Heli
Publicado 2016

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

por Liu, Jingjing, Lončar, Ivona, Collée, J. Margriet, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Andrulis, Irene L., Barile, Monica, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Chang-Claude, Jenny, Chen, Shou-Tung, Chenevix-Trench, Georgia, Cheng, Ching Y., Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cuk, Katarina, Czene, Kamila, Dörk, Thilo, dos-Santos-Silva, Isabel, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hamann, Ute, Hart, Steven N., Hartman, Mikael, Hatse, Sigrid, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela N., Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lophatananon, Artitaya, Jan Lubinski, Mannermaa, Arto, Matsuo, Keitaro, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Orr, Nick, Perez, Jose I. A., Peto, Julian, Putti, Thomas C., Pylkäs, Katri, Radice, Paolo, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schneeweiss, Andreas, Shen, Chen-Yang, Shrubsole, Martha J., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tessier, Daniel C., Thanasitthichai, Somchai, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Vachon, Celine, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Zheng, Wei, Hall, Per, Dunning, Alison M., Easton, Douglas F., Hooning, Maartje J., van den Ouweland, Ans M. W., Martens, John W. M., Hollestelle, Antoinette
Publicado 2016

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

por Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R., Neuhausen, Susan L., Hopper, John L., Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T., Andrulis, Irene L., Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M., Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura, Antoniou, Antonis C.
Publicado 2022

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

por Horne, Hisani N., Chung, Charles C., Zhang, Han, Yu, Kai, Prokunina-Olsson, Ludmila, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Muir, Kenneth, Lophatananon, Artitaya, Fasching, Peter A., Beckmann, Matthias W., Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J., Tomlinson, Ian, Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E., Flyger, Henrik, Benitez, Javier, González-Neira, Anna, Anton-Culver, Hoda, Neuhausen, Susan L., Brenner, Hermann, Arndt, Volker, Meindl, Alfons, Schmutzler, Rita K., Brauch, Hiltrud, Hamann, Ute, Nevanlinna, Heli, Khan, Sofia, Matsuo, Keitaro, Iwata, Hiroji, Dörk, Thilo, Bogdanova, Natalia V., Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chenevix-Trench, Georgia, Wu, Anna H., ven den Berg, David, Smeets, Ann, Zhao, Hui, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Barile, Monica, Couch, Fergus J., Vachon, Celine, Giles, Graham G., Milne, Roger L., Haiman, Christopher A., Marchand, Loic Le, Goldberg, Mark S., Teo, Soo H., Taib, Nur A. M., Kristensen, Vessela, Borresen-Dale, Anne-Lise, Zheng, Wei, Shrubsole, Martha, Winqvist, Robert, Jukkola-Vuorinen, Arja, Andrulis, Irene L., Knight, Julia A., Devilee, Peter, Seynaeve, Caroline, García-Closas, Montserrat, Czene, Kamila, Darabi, Hatef, Hollestelle, Antoinette, Martens, John W. M., Li, Jingmei, Lu, Wei, Shu, Xiao-Ou, Cox, Angela, Cross, Simon S., Blot, William, Cai, Qiuyin, Shah, Mitul, Luccarini, Craig, Baynes, Caroline, Harrington, Patricia, Kang, Daehee, Choi, Ji-Yeob, Hartman, Mikael, Chia, Kee Seng, Kabisch, Maria, Torres, Diana, Jakubowska, Anna, Lubinski, Jan, Sangrajrang, Suleeporn, Brennan, Paul, Slager, Susan, Yannoukakos, Drakoulis, Shen, Chen-Yang, Hou, Ming-Feng, Swerdlow, Anthony, Orr, Nick, Simard, Jacques, Hall, Per, Pharoah, Paul D. P., Easton, Douglas F., Chanock, Stephen J., Dunning, Alison M., Figueroa, Jonine D.
Publicado 2016

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

por Colombo, Mara, Lòpez‐Perolio, Irene, Meeks, Huong D., Caleca, Laura, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L., Anton‐Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Beeghly‐Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang‐Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García‐Closas, Montserrat, Giles, Graham G., González‐Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna, Jung, Audrey, Kosma, Veli‐Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo, Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, van Asperen, Christi J., van den Ouweland, Ans M.W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel, Radice, Paolo
Publicado 2018

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

por Qian, Frank, Rookus, Matti A., Leslie, Goska, Risch, Harvey A., Greene, Mark H., Aalfs, Cora M., Adank, Muriel A., Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Ausems, Margreet G. E. M., Azzollini, Jacopo, Barrowdale, Daniel, Barwell, Julian, Benitez, Javier, Białkowska, Katarzyna, Bonadona, Valérie, Borde, Julika, Borg, Ake, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collée, J. Margriet, Collonge-Rame, Marie-Agnès, Couch, Fergus J., Daly, Mary B., Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dorfling, Cecilia M., Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gehrig, Andrea, Glendon, Gord, Godwin, Andrew K., Gómez Garcia, Encarna B., Hamann, Ute, Hauke, Jan, Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, Janavicius, Ramunas, John, Esther M., Karlan, Beth Y., Kets, Carolien M., Laitman, Yael, Lázaro, Conxi, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Łukomska, Alicja, McGuffog, Lesley, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mooij, Thea M., Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Nehoray, Bita, Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., Offit, Kenneth, Olah, Edith, Ong, Kai-ren, Oosterwijk, Jan C., Ottini, Laura, Parsons, Michael T., Peterlongo, Paolo, Pfeiler, Georg, Pradhan, Nisha, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Robson, Mark, Rodriguez, Gustavo C., Salani, Ritu, Scheuner, Maren T., Schmutzler, Rita K., Shah, Payal D., Side, Lucy E., Simard, Jacques, Singer, Christian F., Steinemann, Doris, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R., Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tung, Nadine, van Asperen, Christi J., van Engelen, Klaartje, van Rensburg, Elizabeth J., Venat-Bouvet, Laurence, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Weitzel, Jeffrey N., Yannoukakos, Drakoulis, Antoniou, Antonis C., Goldgar, David E., Olopade, Olufunmilayo I., Chenevix-Trench, Georgia, Rebbeck, Timothy R., Huo, Dezheng
Publicado 2019