177 results on '"Perez-Segura, P"'
Search Results
2. A combined analysis of two prospective randomised studies exploring the impact of extended post-radiation temozolomide on survival outcomes in newly diagnosed glioblastoma
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Gately, L., Mesía, C., Sepúlveda, J. M., del Barco, S., Pineda, E., Gironés, R., Fuster, J., Hong, W., Dumas, M., Gill, S., Navarro, L. M., Herrero, A., Dowling, A., de las Peñas, R., Vaz, M. A., Alonso, M., Lwin, Z., Harrup, R., Peralta, S., Long, A., Perez-Segura, P., Ahern, E., Garate, C. O., Wong, M., Campbell, R., Cuff, K., Jennens, R., Gallego, O., Underhill, C., Martinez-Garcia, M., Covela, M., Cooper, A., Brown, S., Rosenthal, M., Torres, J., Collins, I. M., Gibbs, P., and Balana, C.
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- 2024
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3. The design, implementation, and impact of an automated patient-reported outcome data collection and adverse event surveillance tool: a randomized trial
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Zhou, Megan S., Jain, Tanya, Hardy, Nick, Perez-Segura, Alejandro, Hickman, Jasmine, Leopold, Laurey, Qualliotine, Kerry, Yedidi, Raagini S., Whetsell, Matthew, and Broffman, Lauren
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- 2023
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4. Correction to: A combined analysis of two prospective randomised studies exploring the impact of extended post-radiation temozolomide on survival outcomes in newly diagnosed glioblastoma
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Gately, L., Mesía, C., Sepúlveda, J. M., del Barco, S., Pineda, E., Gironés, R., Fuster, J., Hong, W., Dumas, M., Gill, S., Navarro, L. M., Herrero, A., Dowling, A., de las Peñas, R., Vaz, M. A., Alonso, M., Lwin, Z., Harrup, R., Peralta, S., Long, A., Perez-Segura, P., Ahern, E., Garate, C. O., Wong, M., Campbell, R., Cuff, K., Jennens, R., Gallego, O., Underhill, C., Martinez-Garcia, M., Covela, M., Cooper, A., Brown, S., Rosenthal, M., Torres, J., Collins, I. M., Gibbs, P., and Balana, C.
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- 2024
- Full Text
- View/download PDF
5. Polygenic risk modeling for prediction of epithelial ovarian cancer risk
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Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
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- 2022
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6. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., and Walker, Logan C.
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- 2022
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7. 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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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
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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.
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- 2016
8. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk
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Dareng, Eileen O., Tyrer, Jonathan P., Barnes, Daniel R., Jones, Michelle R., Yang, Xin, Aben, Katja K. H., Adank, Muriel A., Agata, Simona, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Arun, Banu K., Augustinsson, Annelie, Balmaña, Judith, Bandera, Elisa V., Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q., Bjorge, Line, Black, Amanda, Bogdanova, Natalia V., Bonanni, Bernardo, Borg, Ake, Brenton, James D., Budzilowska, Agnieszka, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Caligo, Maria A., Campbell, Ian, Cannioto, Rikki, Cassingham, Hayley, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Kexin, Chiew, Yoke-Eng, Chung, Wendy K., Claes, Kathleen B. M., Colonna, Sarah, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.
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- 2022
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9. Identification of the initial molecular changes in response to circulating angiogenic cells-mediated therapy in critical limb ischemia
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Beltran-Camacho, Lucia, Jimenez-Palomares, Margarita, Rojas-Torres, Marta, Sanchez-Gomar, Ismael, Rosal-Vela, Antonio, Eslava-Alcon, Sara, Perez-Segura, Mª Carmen, Serrano, Ana, Antequera-González, Borja, Alonso-Piñero, Jose Angel, González-Rovira, Almudena, Extremera-García, Mª Jesús, Rodriguez-Piñero, Manuel, Moreno-Luna, Rafael, Larsen, Martin Røssel, and Durán-Ruiz, Mª Carmen
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- 2020
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10. Delay in starting radiotherapy due to neoadjuvant therapy does not worsen survival in unresected glioblastoma patients
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Balaña, C., Estival, A., Teruel, I., Hardy-Werbin, M., Sepulveda, J., Pineda, E., Martinez-García, M., Gallego, O., Luque, R., Gil-Gil, M., Mesia, C., Del Barco, S., Herrero, A., Berrocal, A., Perez-Segura, P., De las Penas, R., Marruecos, J., Fuentes, R., Reynes, G., Velarde, J. M., Cardona, A., Verger, E., Panciroli, C., and Villà, S.
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- 2018
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11. SEOM clinical guidelines for anaplastic gliomas (2017)
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Balañá, C., Alonso, M., Hernandez, A., Perez-Segura, P., Pineda, E., Ramos, A., Sanchez, A. R., Teixidor, P., Verger, E., and Benavides, M.
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- 2018
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12. SEOM clinical guideline in nasopharynx cancer (2017)
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Pastor, M., Lopez Pousa, A., del Barco, E., Perez Segura, P., Astorga, B. Gonzalez, Castelo, B., Bonfill, T., Martinez Trufero, J., Grau, J. Jose, and Mesia, R.
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- 2017
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13. RWD149 Analysis of the Clinical Impact of the Time to Reimbursement of New Oncology Drugs in Spain: A Case Study in Breast Cancer
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Lopez, R., García-Foncillas, J., Pérez Segura, P., Rodriguez, D., García Alfonso, P., Casado, R., Gratal, P., Rogado, Á, Carmo, M., Ricote, I., Martinez, C., Pinel, M., Heredero, A., and Camps, C.
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- 2024
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14. RWD136 Precision Medicine in Spain: A Real-World Study on Biomarker Testing Rates Across Spanish Regions
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García-Foncillas, J., Pérez Segura, P., Rodriguez, D., García Alfonso, P., Casado, R., Gratal, P., Rogado, Á, Ricote, I., Carmo, M., Martinez, C., Aguirre, J., Gallego, L., Encina, P., and Lopez, R.
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- 2024
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15. Anxiety, depression and coping styles following cancer diagnosis communicated by oncologists before and after receiving training in delivering bad news
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Herrero, A. Aguirre, Escamilla, F. Sánchez, Nieto, M.Á. Pérez, Delgado, M.M. Redondo, Sancho, E. Ruiz, Román, F.J., Escobar, E. Rubio, León, L., Francés, S. Enrech, Escutia, M.Á. Pérez, Martel, I. Juez, and Pérez-Segura, P.
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- 2023
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16. 93P Cetuximab-based chemotherapy after progression on immune-checkpoint inhibitors in recurrent/metastatic head and neck squamous cell cancer
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Cabezas-Camarero, S., Sotelo Lezama, M.J., Merino-Menéndez, S., Cabrera-Martín, M.N., and Pérez Segura, P.
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- 2022
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17. 1780P Homologous recombination pathway in sarcomas: A novel opportunity of therapy?
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Garijo Martínez, M.D.C., Amann Arevalo, M., Manzano Fernández, A., Casado Herraez, A., Marquina Ospina, G., Pérez Segura, P., Fernandez, L., Ortega, L., Lopez Mateos, Y., Benitez Fuentes, J.D., Morchón Araujo, D., Roldan Ruiz, J., and Bartolomé Arcilla, J.
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- 2024
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18. 871P Randomized phase II trial of nivolumab plus paclitaxel in subjects with recurrent/metastatic head and neck squamous cell carcinoma (R/M HNSCC) unable for cisplatin (CP)-based chemotherapy (CT): NIVOTAX TTCC study
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Iglesias Docampo, L., Baste Rotllan, N., Oliva Bernal, M., Carral Maseda, A., Pérez Segura, P., Medina Colmenero, A., Cirauqui Cirauqui, B., Arrazubi Arrula, V., Martinez Trufero, J., Gutierrez Calderon, V., Garcia Castano, A., Rubió-Casadevall, J., Basterretxea, L., Alvarez Cabellos, R., del Barco Morillo, E., Bruixola, G., Flor, M.J., Assaf Pastrana, J.D., Caballero Daroqui, J., and Mesia Nin, R.
- Published
- 2024
- Full Text
- View/download PDF
19. Association of Time of Day With Outcomes Among Patients Triaged for a Suspected Severe Stroke in Nonurban Catalonia
- Author
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García-Tornel, Álvaro, Flores, Alan, Terceño, Mikel, Cardona, Pedro, Amaro, Sergi, Gomis, Meritxell, Zaragoza, Josep, Krupinski, Jerzy, Gómez-Choco, Manuel, Mas, Natalia, Cocho, Dolores, Catena, Esther, Purroy, Francesc, Deck, Matias, Rubiera, Marta, Pagola, Jorge, Rodriguez-Luna, David, Juega, Jesús, Rodríguez-Villatoro, Noelia, Molina, Carlos A., Soro, Cristina, Jimenez, Xavier, Salvat-Plana, Mercè, Dávalos, Antoni, Jovin, Tudor G, Abilleira, Sonia, Pérez de la Ossa, Natalia, Ribó, Marc, Sanjuan, Estela, Santana, Katherine, Maisterra, Olga, Santamarina, Estevo, Muchada, Marian, Boned, Sandra, Franco, Antonio Palasi, Gadea, Marta Olivé, Deck, Matías, Requena, Manuel, Sala, Victoria, Muñoz, Lucía, Millán, Mónica, López-Cancio, Elena, Dorado, Laura, Hernández-Pérez, María, Ciurans, Jordi, Samaniego, Daniela, Canento, Tamara, Martin, Lorena, Planas, Anna, Broto, Joaquin, Sorrentino, Agustín, Paré, Martí, Zhu, Nuole, Garrido, Alicia, Grau, Laia, Crespo, Ane Miren, Presas, Silvia, Almendrote, Miriam, Ramos, Alba, Lucente, Giuseppe, Ispierto, Lourdes, Lozano, Manuel, Becerra, Juan Luis, Jiménez, Marta, Rolán, Dolores Vilas, Guanyabens, Nicolas, Sanchez-Ojanguren, Josep, Martínez-Piñeiro, Alicia, Forcén, Sara, Gea, Mireia, Álvarez, Marta, Ramos, Anna, Lizarbe, Manuel Domínguez, Guerra, Rubio, Bragado, Irene, Arbex, Andrea, Rodríguez, Luis, Bustamante, Alejandro, Portela, Pere Cardona, García, Helena Quesada, Rodríguez, Blanca Lara, Cayuela, Nuria, Miró, Julia, Marzal, Clara, Paipa, Andrés, Campoy, Sergio, Núñez, Ana, Arroyo, Pablo, Besora, Sarah, Adell, Vanessa, Campdelacreu, Jaume, Martí, Montse Alemany, González, Belén, Vila, Laura Bau, Crespo, Marta Fiter, Berbel, Anna, Urbaneja, Ma. Cristina Villaescusa, Guillen, Núria, Vidal, Nuria, Santamaria, Patricia Valentina Vérez, Navarro, Diego Herrero, Simó, Marta, Falip, Mercedes, Matas, Elisabeth, Ochoa, Neus Mongay, Gifreu, Ariadna, Muñoz, Albert, Romero, Lucía, Portell, Eduard, Perez, Guillermo Hernández, Esteve, F. Ruiz, Teixidor, Silvia, Talavera, Augusto Salazar, Gómez, Roser, Nuin, Xabier Urra, Vargas, Martha, Chamorro, Ángel, Llull, Laura, Renú, Arturo, Rudilosso, Salvatore, del Valle, Raquel Sánchez, Ariño, Helena, Solà, Nuria, la Puma, Delón, Gil, Francisco, Gómez, Juan Bernardo, Matos, Nuria, Falgàs, Neus, Borrego, Sergi, Sánchez, Almudena, Balasa, Mircea, Montejo, Carmen, Guasp, Mar, Reyes, David, Cervilla, Pablo Sánchez, Contador, Jose Miguel, Monge, Victor Augusto Vera, Ramos, Oscar, Rodríguez, Alejandro, Campello, Ana Rodríguez, Ballester, Gemma Romeral, Trujillano, Mireia Llop, Steinhauer, Eva Giralt, Godia, Elisa Cuadrado, Santiago, Angel Javier Ois, Conde, Jordi Jimenez, Fábregas, Joan Martí, Guisado, Daniel, Prats, Luís, Camps, Pol, Delgado, Raquel, Domeño, Alejandro Martínez, Marín, Rebeca, Cànovas, David, Estela, Jordi, Ros, Marta, Aranceta, Sonsoles, Espinosa, Jordi, Rubio, Marta, Lafuente, Cristina, Barrachina, Oriol, Anguita, Alicia, Reverter, Anna, García, Carmen, Sansa, Gemma, Hervas, Mariona, Crosas, Monica, Delgado, Tania, Folch, Dra Sonia Huertas, Gamito, Gemma Muñoz, Alvarez, Josep Trenado, Subirana, Teresa, Molina, Jessica, Besora, Sarah, Romero, Laura Comes, Valls, Gemma Guardia, Jover, Miriam, Sotova, Javier Joaquín, García Sánchez, Sonia Mª, Valenzuela, Sebastian, Mengual, Juan José, Font, M. Àngels, Gómez Ruiz, Mª Isabel, Zubizarreta, Irati, González, Susana Fernández, Gubieras, Laura, Cobos, Carmen E., Romo, Luis Mena, Caballol, Nuria, Cano, Luis, Leal, Joaquín Serena, Blas, Yolanda Silva, Trigo, Irene Bragado, Viturro, Saima Bashir, Albiñana, Laura Pardo, Garrido, Montserrat Reina, Cazcarra, Carla Marco, Uscamaita, Karol Enrique, Márquez, Fabian, Coll, Cristina, Villlas, Mar Irida Lloret, Vila, Berta Solano, Perna, Berta Alemany, Domínguezl, Daniel López, de Lera, Mercedes, Foraster, Anna Cots, Monge, Victor Augusto Vera, Bojaryn, Urszula, Benabdelhak, Ikram, Capdevila, Gerard Mauri, Montesinos, Jordi Sanahuja, Vázquez, Daniel, Hervás, José Vicente, González, Cristina, Quílez, Alejandro, Pascual, Mikel Vicente, Ruiz, María, Riba, Yolanda, Villar, M. Pilar Gil, García, Cristina, Roig, Xavier Ustrell, Mora, Mònica Baldrich, Guinjoan, Anna Pellisé, Borras, Judit, Martínez, Alba Mañé, Marés, Rafael, Viñas i Gaya, Jaume, Seró, Laia, Rodríguez, Paula, Castilho, Gislaine, Ortega, Angela Monterde, Reverté, Silvia, Baiges, Joan Josep, Ozaeta, Gisela Martín, Escalante, Sonia, Belloch, Patricia Esteve, Payo, Iago, Salvado, Júlia Saura, Soler Insa, Josep M, Vilamala, Ester Tio, Navarro, Josep Abos, Tabuenca, Héctor Cruz, Sánchez, Tamara Canento, Ros, Marta, Matos, Nuria, Roldán, Elisabet, Rubiol, Elsa Puiggrós, Franquet, Elisabet, Fuentes, Lidia, Donaire, Javier, Martí, Elena, Giménez, Laura, Vázquez, Junior Gil, Ambrós, Eloisa Nieto Clara Gris, Rodríguez, Puri, Oletta, José Félix, Mellado, Pilar Pons, Gómez, Bárbara, Raileau, Vergilin, Pardina, Oscar, Mercadal, Jordi, López-Diéguez, María, Pérez, Pilar, Gabarró, Lourdes, Orriols, María, Molina, José Carlos, Canet, Joan Josep, Roca, Mireia, Álvaro, Muriel, Boneu, Francesc, Giménez, Georgina, Albà, Jaume, Gibert, Francesc, Garcia, Jéssica, Barragan, Patricia, Jurado, Gustavo, Pascual_Medicina Interna, Vanesa, Ortega, Josep Sabaté, Solano, Joan Amaurys Martínez, Fernández, Víctor, Torres, Mónica, Alvaredo, Ana Belén Montero, Parejo, Laura Redondo, Aragonés, Josep Maria, Bullón, Anna, Loste, Cora, González, Paula, Bejarano, Neker, Sanchez, Francisco, Lucchetti, Gianni, Pla, Xavier, Gimeno, Dr Javier, Reynaga, Esteban, Barcons, Montse, Celedón, Gabriel, Ortiz, Juan, Anastasovski, Dr Goran, Mascaró, Dr Oscar, de los Ríos, Dr Javier Diez, Feliu, Meritxell, Ribera, Anna, Ruiz, Cristhian, Corominas, Gerard, Nunes, Dra Daniella, Roca, Claudia, Latorre, Nadina, Yataco, Lizbeth, Cruz, Maricelys, Blanco, Nerea, Castejón, Santiago, Sunyer, Claustre Pont, Garcia, Jordi Espinosa, Martin, Rodrigo Paz, de Luis Sanchez, Albert, Vivas, Dolores Espinosa, Molina, Juan Valencia, Palome, Planels, Chaume, Laia Tomas, Vilella, Ares Villagrasa, Bustamante, Marco, Boltes, Anunciación, Rodríguez, Fernando, Arrieta, Itziar, Molist, Jordi Ciurans, Andreu, Barnés, Soler, Ernest Palomeras, Buscà, Nicolau Guanyabens, López, Manuel Daza, Farreres, Jordi Bigas, Ruiz, Virginia Casado, Batiste, Desiree Muriana, Sanz Cartagena, Mª Pilar, de Vega, Eulalia Cabot, Real, Josep Bassa, Roman, Hector Pelaez, Socolich, César, Alonso Camp, Josep Mª, Orgaz, Antonio Tomás Cano, Fossas Felip, Mª Pilar, Morón, Nicolás, Bacca, Sandra, Molina, Mauricio, Casarramona, Francesc, Elias, Lorena, Bukaei, Muhammad Zidane, Gutierrez, Jose Antonio Martos, Escuin, Judith Lopez, Olaizola, Cristina, Vargas, Yolexis López, Oyonarte, Juan Jiménez, Soultana, Rashida, Golpe, Eduardo Sanjurjo, Salvador, Esther, Vila, Guillem, Serrano, Marcos, Claverol, Matilde Nuria López, Lamolla, Marian, Amate, Miquel, Rodriguez, Adriana, Romero, Ruth, del Carpio, Montgomery, Hernandez, Ana Isabel, Martín, Julián, Rosas, M Carmen, Nogueroles, Antonio, Encarnación, Sorilandy, Robles, Augusto, Herrera, Jose Antonio, Gavilán, Roger, Mameghani, Toghrol, Araujo, Gastón, Morales, M.Angeles Garrido, Segui, Enric Ramon Albert, Climent, Eva Fernandez, Pujol, Francesc Paris, Seira, Mireia Judit Garrofé, Pía, Lucía Gómez, Nuñez, Fernando Salleres, Peñalver, Cristina Aguar, Lopes, Cristina Vaz, Tasa, Elisenda Ribera, Vilchez, Carmen Repullo, Zambrana, Modesto Sánchez, Ribas, Beatriu Suescun, Panés, Inés Vilà, Planavila, Montserrat Vila, Lorenzo, Alicia Vaqueiro, Guixes, Meritxell Sabartés, Medina, Jorge, Sambrano, David, Zamarreño, Javi, Pirela, Carmen, Vélez, Paola, Cajamarca, Luis, Pérez, Honey, Martínez, Yarles, Gonçalves, Jesus Alexander, Regordosa, Carles, Mormeneo, Claudia, Griu, Laura, Colina, Maria Francia, Farik, Enric, Duch, Dolors Carrión, Badenas, Carles, Bernal, Oscar, Agramunt, Núria, Morales, Shyrlei, Reynoso, Victoria, Guerrero, Miguel, Cid, Primitivo Romera, Folqué, Mònica, Pedroza, Claudia, Hachem, Adnan, Martínez, Íñigo Soteras, García, Xavier Verdera, Amorós, Mercè López, Subirós, Xavier Costa, Benet, Marta Cufí, Van Eendenburg, Cecile, Osuna, Teresa, Santos, Dra Gina, Pallisera, Dra Mireia, Oliva, Dr Lluís Gonzalo, Sanchez, Dra Gemma, Basurto, Dr Xavier, Vivoda, Dr Ludgi, Van der Kleyn, Dr Richard, Robles, Dra Laura, Barranco, Ana Cabanelas, Almendros, Mª Cruz, Oliveras, Marc Pérez, Álvarez, Amelia Fernández, Rybyeva, Maria, Viñas, Antoni, Barcons, Maria, Tavera, Joaquim Danès Alberto, Burbano, Pablo, López, Cintie, Cruz, David, Bisbe, Paula, Fernández, Nora, Palacio, Juan Carlos, Fraiz, Eduardo, Aguiló, Oriol, Amorodjo, Rollmy, Velázquez, John, Sánchez, Elena, Español, Jaume, Perez de Celis, Judit, Coll, Anna, Díaz, Glòria, Vergés i Sala, Margarida, Casas Capdevila, Mª Ángels, Ferrini, Yosmairy Yoselin, Gorriz, Aitor, Navarro, Diego-Javier Cucurell, Velásquez, Dulce, Pla Soler, Jaume, González, Josep, Higuera, Julian David, Cuellar, Lina, Miniello, Liza Margarita, Pujol, Lluis, Cracan, Sorin, Vives, Mora, Angela, M, Lopez, Lopez, Molist, Montse Gorchs, Anna, Delofeu, Muñoz, Silvia Solà, Yolanda, Ferreres, Pujalte, Carol, Marín, Elisabeth Téllez, Casas, Yolanda Font, Luque, Sara Hernández, Sendra, Joaquim Mejias, Valero, Francesca Mellado, Escala, Campos, De Lacanal, Galup, Diaz, Lopez, Paramio, Castillo, Estopà, Català, Moreda, Español, Majo, Calafell, Almeida, Carballo, Naval, Castro, Elena, M, Ruiz, Cregut, Lluis, Pere, Font, Deulofeu, Sanjuan, Fabregat, Pere, Joan, Gorchs, Fontquerni, Bellés, Forés, Antoni, Joan, Herrera, Gomez, Carlos, Juan, Prades, Hijazo, Torvisco, Itzaina, Rovira, Marti, Gonzalez, Obiols, Cavero, Olive, Gil, Querol, Soledad, M, Rodriguez, Rico, Sambernardo, Rios, Molina, Ropero, Ramon, Jose, Valero, Sanchez, Arevalo, Santos, Jose, Maria, Garcia, Soto, Angeles, Maria, Escribano, Tebar, Garcia, Torres, José, Pedro, Carrion, Verdes, Isabel, M, Lopez, Verge, Jose, Juan, Canela, Lopez, Angeles, M, Guarque, Lucas, Alvarez, Morales, Arnulfo, Jorge, Fornieles, Morell, Gomez, Subirats, Teresa, Maria, Masa, Torello, Miquel, Lopez, Val, Mercedes, Maria, Reyes, Palmero, Manuel, Juan, Forne, Rodriguez, Turiel, Ruana, Gonzalez, Sanchez, Gornals, Sebastia, Rico, Abrio, Falip, Albert Gual, Oliveros, Aznar, Perotti, Brugues, Molinero, Calvet, Franco, Catells, Medina, Corrales, Miro, Daroca, Marquez, Duran, Pradas, Feliu, Casanova, Figueras, Tortajada, Garcia, Gallego, Grajera, del Mar, Azahara, Arroyo, Las, de Jesus, Dulcenombre, Sanz, Laserreta, Vidal, Llambrich, Corral, Monllao, de la Cruz, Morales, Blanco, Moreno, Orgaz, Orejuela, Suazo, Piñana, Minguillon, Pons, Gómez, Rodríguez, Carlos, José, Pereira, Rodriguez, Porcel, Sedo, Anna, Villar, Sevil, Lopez, Sierra, Romero, Torres, Calveres, Trepat, Anna, Arnella, Ventura, Gil, Acera, Teresa, M, Vico, Biesot, Galea, Castro, Maria, Rosa, Chafer, Escorcia, Antonio, Juan, Moreda, Español, Faure, Gil, Luque, Hernandez, Delgado, Jimenez, Gay, Mallafre, Angel, M., Sanzo, Olivares, Fondevila, Pubill, Fort, Sabate, Agámez, Segovia, Carlos, Antonio, Longaretti, Turata, Hernandez, Valle, Guixens, Trayner, Valor, Aguilar, Alvarez, Aguirre, Naval, Alastrue, Baquero, Alferez, Marne, Alonso, Orozco, Aloy, Colino, Alvarez, Peñuela, Alvarez, Cirilo, Ameller, Vanessa, Maria, Guerrero, Andujar, Remedios, Estefania, Sillero, Auladell, Sorbet, Azcarate, Genesca, Basany, Barduena, Benavent, Tudela, Benito, Pardo, Blanch, Pla, Boluda, Gonzalez, Bonilla, Serramalera, Bru, Andreu, Burnat, Calvo-Rayo, Caballero, Casellas, Calvo, Mombiela, Camps, Bresme, Cano, Fernandez, Carcelen, Solà, Caro, Matavacas, Casasas, Bolado, Castanedo, Cortina, Cerdeña, Jane, Abella, Borrego, Laia Collado, Orri, Colom, Vilanova, Comellas, Sole, Conillera, Torres, Cots, Estepa, Cuchi, de Sostoa Graell, Marc, del Rio Lopez, Laura, Compte, Delgado, Bueno, Diaz, Maneiro, Diaz, Lucia, Andrea, Palau, Domenech, Carme, M., Carasso, Duran, Javier, Pablo, Marquez, Duran, Abidi, El, Martin, Escoda, Casanovas, Esteve, Perez, Fernandez, Quintero, Ferre, Escobar, Flores, Abad, Fontcuberta, del Valle, Fortes, del Valle, Fortes, Luisa, Mª, Quesada, Franco, Maria, Sara, Romero, Franco, Teresa, Maria, Francisco, Gallego, Gala, Gamiz, Castañeda, Garcia, Rodriguez, Garcia, Gemma, Casajuana, Arroyo, Gomez, Girbau, Gomez, Fernandez, Gonzalez, Gonzalez, Gonzalez, Gonzalez, Gonzalez, Lopez, Gonzalez, Obeso, Gual, Blanco, Guerrero, Roca, Guillemas, Eudaldo, Guillermo, Hernandez, Sebastia, Covas, Homar, Alvarez, Hostench, Royo, Huerta, Barcelo, Ibañez, Cruz, Izquiero, Etxetxikia, Jaione Urdangarin, Gimenez, Juárez, Alami, Khlifi, Gasco, Laparra, Moreales, Lara, Arroyo, Las, de Jesus, Dulcenombre, Medina, Lasaosa, Lourdes, Maria, Cava, Lazaro, Berrar, Leon, Maturana, López, Ramirez, Lopez, Romero, López, Marco, Lorente, Martin, Lorenzo, Casals, Lozano, Nicola, Lujan, Diaz, Madrid, Antonio, Jose, Morales, Maria Teresa Peris, Clemente, Marti, Castaño, Martinez, Natanael, David, Gamez, Martinez, Gonzalez, Martinez, Quesada, Martinez, de la Cabeza, Maria, Fusté, Marzà, Lasheras, Melendo, Mestre, Miralles, Pastalle, Montserrat Puig, Vidal, Montserrate, Mellado, Mora, Ponce, Morales, Fornieles, Morell, Cabre, Morera, Vivet, Morera, Souza, Mundi, Quiles, Muñoz, Rosa, Navea, Iglesias, Neira, Asuncion, M, Manrique, Nuñez, Pilar, Mª, Martinez, Obiols, Reig, Pallares, Torres, Partegas, Berengueras, Pascual, Gamez, Perez, Oset, Perez, Restrepo, Perez, Alejandra, Maria, Yeste, Planas, Mangado, Planells, Minguillon, Pons, Carbonell, Puertas, Blanco, Quinteiro, Benavente, Rebollar, Fernandez, Recasens, Gomez, Reyes, del Carmen, Maria, Pou, Roca, Ferrer, Rodriguez, Franco, Rodriguez, Fuertes, Rodriguez, Muñoz, Rodriguez, Navarro, Rodriguez, Iniesta, Roig, Gracia, Romero, Brunet, Rovira, de Eugenio, Rovira, Baena, Rubio, Llorens, Ruiz, Llamazares, Sala, Alaez, San Juan, Segura, Sanchez, Soldevilla, Santasusana, Salmeron, Sanz, Perez, Segura, Balcells, Serra, Dumitras, Sorina, Montoya, Teixidor, Vicente, Tena, Salinas, Tierno, Ines, Ester, Testa, Toledo, Figueras, Tomàs, Ruperez, Tomas, Garcia-Penche, Torrano, Esparza, Torres, Blanco, Vazquez, De la Paz, Vazquez, Gil, Vazquez, Gonzalez, Vazquez, Meler, Vidal, Cots, Vilalta, Jimenez, Vilches, Jose, Maria, Fernandez, Visser, Gavin, Viu, Vives, Vives, Jimenez, Carmona, Jose, Francisco, Vilches, Galobardes, Gomez, Gonzalez, Manzanera, Jodar, Cortes, Marimon, Orive, Marrodan, Bosch, Martin, Jose, Maria, Lopez, Martorell, Roca, Millares, Jesus, M, Guri, Miralles, Hernandez, Muliterno, Oliva, Muñoz, Pujol, Pons, Conde, Postius, Arruñada, Prieto, Antonio, Jose, Mathé, Quintana, Mata, Rosell, Alvarez, Aguirre, Alvarez, Alvarin, Flores, Arrufat, Pago, Bañuelos, Andreu, Burnat, Vilar, Campo, Hidalgo, Cardus, Gil, Castello, Gloria, Maria, Montsesinos, Castrillo, Estopà, Català, Garces, Clave, Sanroma, Comes, Sequi, Descalzo, Ricol, Errando, Campillo, Escudero, del Mar, Maria, Alvarez, Fernandez, Gomez, Fernandez, Perez, Fernandez, Espinosa, Franch, Graells, Freixes, Plaza, Garcia, Gallego, Garcia-Marron, Simancas, Hernandez, Covas, Homar, Royo, Huerta, Armas, Jaraba, Ramos, Jimenez, Canela, Lopez, Angeles, M, Lopez, Lopez, Oganissian, Lopez, Romero, Madrona, Rosa, M, Millan, Martinez, Morón, Martínez, Encinas, Merchan, Fornieles, Morell, Jimenez, Moreno, Rico, Muñoz, Rodriguez, Navarro, Ibañez, Nogales, Maria, Rita, Viera, Novillo, Torrabadella, Parella, Alba, Mari, Villar, Pera, Montserrat, Carla, Carbonell, Puertas, Miralles, Rabella, Trilles, Ramis, Ortiz, Ribera, Fuertes, Rodriguez, Gonzalez, Sanchez, Perez, Sastre, Perez, Segura, Borrega, Soro, Garcia, Soto, Angeles, Maria, Fores, Tapia, Bernad, Tellez, Alvarez, Trenado, Moreda, Español, Martin, Felix, Perez, Herrero, Manzanera, Jodar, Fuster, Lanau, Gomariz, Lopez, Orive, Marrodan, Bosch, Martin, Jose, Maria, Guri, Miralles, Oliva, Muñoz, Lozano, Pardo, Pujol, Pons, Altimiras, Quintana, Lopez, Ventosa, Damian, Almodovar, Colino, Alvarez, Monterroso, Alvarez, Comas, Arambudo, Garzon, Boullon, Capella, Burgos, Garcia, Campuzano, Del Mar, Maria, Olivas, Capdevila, Fernandez, Carcelen, Solà, Caro, Marti, Carre, Isabel, Clara, Bacaicoa, Carretero, Gil, Castello, Gloria, Maria, Montsesinos, Castrillo, Calderon, Cazorla, Osuna, Chacon, Planas, Cortes, Olio, Cortit, Estany, Delhomme, Carasso, Duran, Javier, Pablo, Campillo, Escudero, del Mar, Maria, Martinez, Fructuos, Lopez, Garcia, Luis, Pascual, Plaza, Garcia, Vallve, Genis Amill, Arroyo, Gomez, Girbau, Gomez, Muñoz, Gonzalez, Ventura, Hernaez, Covas, Homar, Gimenez, Lavernia, Rojo, Martin, Medina, Martínez, Millan, Martinez, Barrera, Mayol, Pi, Mercader, Dalmau, Merino, Campodarbe, Miguel, Pastalle, Montserrat Puig, de la Cruz, Morales, Fornieles, Morell, Sanchez, Moreno, Javier, Francisco, Reig, Pallares, Torrabadella, Parella, Alba, Mari, Barrameda, Penela, Ajenjo, Prieto, Benavente, Rebollar, Pareja, Rodriguez, Piñar, Rodríguez, Javier, Francisco, Tello, Rodriguez, Pereda, Romero, Saborido, Sainz, Martin, Santacana, Martinez, Santos, Chavez, Sierra, Testa, Toledo, Figueras, Tomàs, Garcia, Torres, José, Pedro, Torres, Turbau, Domenech, Vicente, Esteo, Villena, Pertegaz, Vives, Gonzalez, Baena, Pont, Bagaria, Sanchez, Beltran, Alarcon, Bonet, Ballescà, Borch, Clanchet, Buhils, Garcia, Closa, Carril, Colomina, Sanchez, Cristina Fernandez, Toledo, Edurne Judith Fernandez, Rodriguez, Espases, Resa, Espert, Xavier, F, Sol, Fernández, Lugo, Gonzalez, Llesera, Gracia, Lendinez, Herrada, Liesa, Juliench, Alicia, Sandra, Ortega, Lopez, Yuste, Lopez, Villanueva, Lozano, Soto, Lucia Sola, Castellano, Madrid, Cano, Megias, Jesus, Daniel, Ponce, Montasell, Sospedra, Montesinos, Martinez, Moya, Herrera, Muñoz, Isabel, M, Fernandez, Ocaña, Jose, Maria, Bernal, Palau, Sole, Perez, Carbonell, Ramon, Lop, Ribas, López, Rubio, Lopez, Rueda, Castaño, Sabat, Lara, Sabata, Ramírez, Salmerón, Gornals, Sebastia, Creus, Serra, Dalmau, Serrano, Mainero, Sumasi, Gabriel, Gonzalo, Masa, Torello, Primo, Valencia, Muñoz, Ana Maria Viñuales, Roig, Josep, and Hidalgo, Verònica
- Published
- 2023
- Full Text
- View/download PDF
20. Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas
- Author
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Garcia-Tornel, Alvaro, Millan, Monica, Rubiera, Marta, Bustamante, Alejandro, Requena, Manuel, Dorado, Laura, Olivé-Gadea, Marta, Jiménez, Xavier, Soto, Angels, Querol, Marisol, Hernández-Pérez, Maria, Gomis, Meritxell, Cardona, Pere, Urra, Xabier, Purroy, Francesc, Silva, Yolanda, Ustrell, Xavier, Esteve, Patricia, Salvat-Plana, Mercè, Gallofré, Miquel, Molina, Carlos, Dávalos, Antoni, Jovin, Tudor, Abilleira, Sonia, Ribo, Marc, Pérez de la Ossa, Natalia, Jacobi, Marc Ribó, Sanjuan, Estela, Santana, Katherine, Rodríguez, Noelia, Pagola, Jorge, Rodriguez-Luna, David, Maisterra, Olga, Santamarina, Estevo, Muchada, Marian, Juega, Jesús, Boned, Sandra, Franco, Antonio Palasi, García -Tornel, Álvaro, Deck, Matías, Sala, Victoria, Muñoz, Lucía, Millán, Mónica, López-Cancio, Elena, Hernández-Pérez, María, Ciurans, Jordi, Samaniego, Daniela, Canento, Tamara, Martin, Lorena, Planas, Anna, Broto, Joaquin, Sorrentino, Agustín, Paré, Martí, Zhu, Nuole, Garrido, Alicia, Grau, Laia, Crespo, Ane Miren, Presas, Silvia, Almendrote, Miriam, Ramos, Alba, Lucente, Giuseppe, Ispierto, Lourdes, Lozano, Manuel, Becerra, Juan Luis, Jiménez, Marta, Rolán, Dolores Vilas, Guanyabens, Nicolas, Sanchez-Ojanguren, Josep, Martínez-Piñeiro, Alicia, Forcén, Sara, Gea, Mireia, Álvarez, Marta, Ramos, Anna, Lizarbe, Manuel Domínguez, Sara, Guerra, Rubio, Bragado, Irene, Arbex, Andrea, Rodríguez, Luis, Portela, Pere Cardona, García, Helena Quesada, Rodríguez, Blanca Lara, Cayuela, Nuria, Miró, Julia, Marzal, Clara, Paipa, Andrés, Campoy, Sergio, Núñez, Ana, Arroyo, Pablo, Besora, Sarah, Adell, Vanessa, Campdelacreu, Jaume, Martí, Montse Alemany, González, Belén, Vila, Laura Bau, Crespo, Marta Fiter, Berbel, Anna, Urbaneja, Ma. Cristina Villaescusa, Guillen, Núria, Vidal, Nuria, Vérez Santamaria, Patricia Valentina, Navarro, Diego Herrero, Simó, Marta, Falip, Mercedes, Matas, Elisabeth, Ochoa, Neus Mongay, Gifreu, Ariadna, Muñoz, Albert, Romero, Lucía, Portell, Eduard, Perez, Guillermo Hernández, Esteve, F. 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21. Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)
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Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmana, J, Bandera, EV, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, NV, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, Y-E, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dork, T, du Bois, A, Durst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, RT, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Hogdall, E, Hogdall, CK, Hopper, JL, Huang, R-Y, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, PA, Janavicius, R, Jensen, A, Johannsson, OT, John, EM, Jones, ME, Kang, D, Karlan, BY, Karnezis, A, Kelemen, LE, Khusnutdinova, E, Kiemeney, LA, Kim, B-G, Kjaer, SK, Komenaka, I, Kupryjanczyk, J, Kurian, AW, Kwong, A, Lambrechts, D, Larson, MC, Lazaro, C, Le, ND, Leslie, G, Lester, J, Lesueur, F, Levine, DA, Li, L, Li, J, Loud, JT, Lu, KH, Lubinski, J, Mai, PL, Manoukian, S, Marks, JR, Matsuno, RK, Matsuo, K, May, T, McGuffog, L, McLaughlin, JR, McNeish, IA, Mebirouk, N, Menon, U, Miller, A, Milne, RL, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, KB, Munro, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nielsen, HR, Nielsen, FC, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, OI, Olson, SH, Olsson, H, Osorio, A, Papi, L, Park, SK, Parsons, MT, Pathak, H, Pedersen, IS, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, JB, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, MJ, Risch, HA, Rodriguez-Antona, C, Ross, E, Rossing, MA, Runnebaum, I, Sandler, DP, Santamarina, M, Soucy, P, Schmutzler, RK, Setiawan, VW, Shan, K, Sieh, W, Simard, J, Singer, CF, Sokolenko, AP, Song, H, Southey, MC, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, AJ, Tan, YY, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, M, Thompson, PJ, Thomsen, LCV, Thull, DL, Tischkowitz, M, Titus, L, Toland, AE, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, SS, Valen, E, van Altena, AM, van der Hout, AH, Van Nieuwenhuysen, E, van Rensburg, EJ, Vega, A, Edwards, DV, Vierkant, RA, Wang, F, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, White, E, Whittemore, AS, Winham, SJ, Wolk, A, Woo, Y-L, Wu, AH, Yan, L, Yannoukakos, D, Zavaglia, KM, Zheng, W, Ziogas, A, Zorn, KK, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, TA, Ramus, SJ, Pearce, CL, Monteiro, AN, Cunningham, JM, Goode, EL, Schildkraut, JM, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Antoniou, AC, Pharoah, PDP, Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmana, J, Bandera, EV, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, NV, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, Y-E, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dork, T, du Bois, A, Durst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, RT, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Hogdall, E, Hogdall, CK, Hopper, JL, Huang, R-Y, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, PA, Janavicius, R, Jensen, A, Johannsson, OT, John, EM, Jones, ME, Kang, D, Karlan, BY, Karnezis, A, Kelemen, LE, Khusnutdinova, E, Kiemeney, LA, Kim, B-G, Kjaer, SK, Komenaka, I, Kupryjanczyk, J, Kurian, AW, Kwong, A, Lambrechts, D, Larson, MC, Lazaro, C, Le, ND, Leslie, G, Lester, J, Lesueur, F, Levine, DA, Li, L, Li, J, Loud, JT, Lu, KH, Lubinski, J, Mai, PL, Manoukian, S, Marks, JR, Matsuno, RK, Matsuo, K, May, T, McGuffog, L, McLaughlin, JR, McNeish, IA, Mebirouk, N, Menon, U, Miller, A, Milne, RL, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, KB, Munro, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nielsen, HR, Nielsen, FC, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, OI, Olson, SH, Olsson, H, Osorio, A, Papi, L, Park, SK, Parsons, MT, Pathak, H, Pedersen, IS, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, JB, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, MJ, Risch, HA, Rodriguez-Antona, C, Ross, E, Rossing, MA, Runnebaum, I, Sandler, DP, Santamarina, M, Soucy, P, Schmutzler, RK, Setiawan, VW, Shan, K, Sieh, W, Simard, J, Singer, CF, Sokolenko, AP, Song, H, Southey, MC, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, AJ, Tan, YY, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, M, Thompson, PJ, Thomsen, LCV, Thull, DL, Tischkowitz, M, Titus, L, Toland, AE, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, SS, Valen, E, van Altena, AM, van der Hout, AH, Van Nieuwenhuysen, E, van Rensburg, EJ, Vega, A, Edwards, DV, Vierkant, RA, Wang, F, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, White, E, Whittemore, AS, Winham, SJ, Wolk, A, Woo, Y-L, Wu, AH, Yan, L, Yannoukakos, D, Zavaglia, KM, Zheng, W, Ziogas, A, Zorn, KK, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, TA, Ramus, SJ, Pearce, CL, Monteiro, AN, Cunningham, JM, Goode, EL, Schildkraut, JM, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Antoniou, AC, and Pharoah, PDP
- Published
- 2022
22. Polygenic risk modeling for prediction of epithelial ovarian cancer risk
- Author
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Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmana, J, Bandera, E, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, N, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, Y-E, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dork, T, du Bois, A, Durst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, R, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Group, OS, AOCSGroup, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Hogdall, E, Hogdall, CK, Hopper, JL, Huang, R-Y, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, PA, Janavicius, R, Jensen, A, Johannsson, OT, John, EM, Jones, ME, Kang, D, Karlan, BY, Karnezis, A, Kelemen, LE, Khusnutdinova, E, Kiemeney, LA, Kim, B-G, Kjaer, SK, Komenaka, I, Kupryjanczyk, J, Kurian, AW, Kwong, A, Lambrechts, D, Larson, MC, Lazaro, C, Le, ND, Leslie, G, Lester, J, Lesueur, F, Levine, DA, Li, L, Li, J, Loud, JT, Lu, KH, Mai, PL, Manoukian, S, Marks, JR, KimMatsuno, R, Matsuo, K, May, T, McGuffog, L, McLaughlin, JR, McNeish, IA, Mebirouk, N, Menon, U, Miller, A, Milne, RL, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, KB, Munro, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nielsen, HR, Nielsen, FC, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, O, Olson, SH, Olsson, H, Osorio, A, Papi, L, Park, SK, Parsons, MT, Pathak, H, Pedersen, IS, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, JB, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, MJ, Risch, HA, Rodriguez-Antona, C, Ross, E, Rossing, MA, Runnebaum, I, Sandler, DP, Santamarina, M, Soucy, P, Schmutzler, RK, Setiawan, VW, Shan, K, Sieh, W, Simard, J, Singer, CF, Sokolenko, AP, Song, H, Southey, MC, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, AJ, Tan, YY, Teixeira, MR, Teo, SH, Terry, KL, BethTerry, M, Thomassen, M, Thompson, PJ, Thomsen, LCV, Thull, DL, Tischkowitz, M, Titus, L, Toland, AE, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, SS, Valen, E, van Altena, AM, van der Hout, AH, Nieuwenhuysen, E, van Rensburg, EJ, Vega, A, Edwards, DV, Vierkant, RA, Wang, F, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, White, E, Whittemore, AS, Winham, SJ, Wolk, A, Woo, Y-L, Wu, AH, Yan, L, Yannoukakos, D, Zavaglia, KM, Zheng, W, Ziogas, A, Zorn, KK, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, TA, Ramus, SJ, Pearce, CL, Monteiro, AN, Cunningham, J, Goode, EL, Schildkraut, JM, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Antoniou, AC, Pharoah, PDP, Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Augustinsson, A, Balmana, J, Bandera, E, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Bjorge, L, Black, A, Bogdanova, N, Bonanni, B, Borg, A, Brenton, JD, Budzilowska, A, Butzow, R, Buys, SS, Cai, H, Caligo, MA, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, SJ, Chen, K, Chiew, Y-E, Chung, WK, Claes, KBM, Colonna, S, Cook, LS, Couch, FJ, Daly, MB, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, YC, Doherty, JA, Domchek, SM, Dork, T, du Bois, A, Durst, M, Eccles, DM, Eliassen, HA, Engel, C, Evans, GD, Fasching, PA, Flanagan, JM, Fortner, R, Machackova, E, Friedman, E, Ganz, PA, Garber, J, Gensini, F, Giles, GG, Glendon, G, Godwin, AK, Goodman, MT, Greene, MH, Gronwald, J, Group, OS, AOCSGroup, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hansen, TVO, Harris, HR, Hartman, M, Heitz, F, Hildebrandt, MAT, Hogdall, E, Hogdall, CK, Hopper, JL, Huang, R-Y, Huff, C, Hulick, PJ, Huntsman, DG, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, PA, Janavicius, R, Jensen, A, Johannsson, OT, John, EM, Jones, ME, Kang, D, Karlan, BY, Karnezis, A, Kelemen, LE, Khusnutdinova, E, Kiemeney, LA, Kim, B-G, Kjaer, SK, Komenaka, I, Kupryjanczyk, J, Kurian, AW, Kwong, A, Lambrechts, D, Larson, MC, Lazaro, C, Le, ND, Leslie, G, Lester, J, Lesueur, F, Levine, DA, Li, L, Li, J, Loud, JT, Lu, KH, Mai, PL, Manoukian, S, Marks, JR, KimMatsuno, R, Matsuo, K, May, T, McGuffog, L, McLaughlin, JR, McNeish, IA, Mebirouk, N, Menon, U, Miller, A, Milne, RL, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, KB, Munro, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nielsen, HR, Nielsen, FC, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, O, Olson, SH, Olsson, H, Osorio, A, Papi, L, Park, SK, Parsons, MT, Pathak, H, Pedersen, IS, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, JB, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, MJ, Risch, HA, Rodriguez-Antona, C, Ross, E, Rossing, MA, Runnebaum, I, Sandler, DP, Santamarina, M, Soucy, P, Schmutzler, RK, Setiawan, VW, Shan, K, Sieh, W, Simard, J, Singer, CF, Sokolenko, AP, Song, H, Southey, MC, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, AJ, Tan, YY, Teixeira, MR, Teo, SH, Terry, KL, BethTerry, M, Thomassen, M, Thompson, PJ, Thomsen, LCV, Thull, DL, Tischkowitz, M, Titus, L, Toland, AE, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, SS, Valen, E, van Altena, AM, van der Hout, AH, Nieuwenhuysen, E, van Rensburg, EJ, Vega, A, Edwards, DV, Vierkant, RA, Wang, F, Wappenschmidt, B, Webb, PM, Weinberg, CR, Weitzel, JN, Wentzensen, N, White, E, Whittemore, AS, Winham, SJ, Wolk, A, Woo, Y-L, Wu, AH, Yan, L, Yannoukakos, D, Zavaglia, KM, Zheng, W, Ziogas, A, Zorn, KK, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, TA, Ramus, SJ, Pearce, CL, Monteiro, AN, Cunningham, J, Goode, EL, Schildkraut, JM, Berchuck, A, Chenevix-Trench, G, Gayther, SA, Antoniou, AC, and Pharoah, PDP
- Abstract
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, "select and shrink for summary statistics" (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28-1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08-1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21-1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29-1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35-1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.
- Published
- 2022
23. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- Author
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Barnes, DR, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, BA, Ahmed, M, Aittomaki, K, Andrulis, IL, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmana, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, SE, Borg, A, Bozsik, A, Brady, AF, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cassingham, H, Christensen, LL, Cini, G, Claes, KBM, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, De Leeneer, K, de Putter, R, Del Valle, J, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Eeles, R, Engel, C, Evans, DG, Feliubadalo, L, Fostira, F, Frone, M, Frost, D, Gallagher, D, Gehrig, A, Giraud, S, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gregory, H, Gross, E, Hahnen, E, Hamann, U, Hansen, TVO, Hanson, H, Hentschel, J, Horvath, J, Izatt, L, Izquierdo, A, James, PA, Janavicius, R, Jensen, UB, Johannsson, OT, John, EM, Kramer, G, Kroeldrup, L, Kruse, TA, Lautrup, C, Lazaro, C, Lesueur, F, Lopez-Fernandez, A, Mai, PL, Manoukian, S, Matrai, Z, Matricardi, L, Maxwell, KN, Mebirouk, N, Meindl, A, Montagna, M, Monteiro, AN, Morrison, PJ, Muranen, TA, Murray, A, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Tu, N-D, Niederacher, D, Olah, E, Olopade, O, Palli, D, Parsons, MT, Pedersen, IS, Peissel, B, Perez-Segura, P, Peterlongo, P, Petersen, AH, Pinto, P, Porteous, ME, Pottinger, C, Pujana, MA, Radice, P, Ramser, J, Rantala, J, Robson, M, Rogers, MT, Ronlund, K, Rump, A, Sanchez de Abajo, AM, Shah, PD, Sharif, S, Side, LE, Singer, CF, Stadler, Z, Steele, L, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teule, A, Thull, DL, Tischkowitz, M, Toland, AE, Tommasi, S, Toss, A, Trainer, AH, Tripathi, V, Valentini, V, van Asperen, CJ, Venturelli, M, Viel, A, Vijai, J, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Whaite, A, Zanna, I, Offit, K, Thomassen, M, Couch, FJ, Schmutzler, RK, Simard, J, Easton, DF, Chenevix-Trench, G, Antoniou, AC, Ottini, L, Barnes, DR, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, BA, Ahmed, M, Aittomaki, K, Andrulis, IL, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmana, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, SE, Borg, A, Bozsik, A, Brady, AF, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cassingham, H, Christensen, LL, Cini, G, Claes, KBM, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, De Leeneer, K, de Putter, R, Del Valle, J, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Eeles, R, Engel, C, Evans, DG, Feliubadalo, L, Fostira, F, Frone, M, Frost, D, Gallagher, D, Gehrig, A, Giraud, S, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gregory, H, Gross, E, Hahnen, E, Hamann, U, Hansen, TVO, Hanson, H, Hentschel, J, Horvath, J, Izatt, L, Izquierdo, A, James, PA, Janavicius, R, Jensen, UB, Johannsson, OT, John, EM, Kramer, G, Kroeldrup, L, Kruse, TA, Lautrup, C, Lazaro, C, Lesueur, F, Lopez-Fernandez, A, Mai, PL, Manoukian, S, Matrai, Z, Matricardi, L, Maxwell, KN, Mebirouk, N, Meindl, A, Montagna, M, Monteiro, AN, Morrison, PJ, Muranen, TA, Murray, A, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Tu, N-D, Niederacher, D, Olah, E, Olopade, O, Palli, D, Parsons, MT, Pedersen, IS, Peissel, B, Perez-Segura, P, Peterlongo, P, Petersen, AH, Pinto, P, Porteous, ME, Pottinger, C, Pujana, MA, Radice, P, Ramser, J, Rantala, J, Robson, M, Rogers, MT, Ronlund, K, Rump, A, Sanchez de Abajo, AM, Shah, PD, Sharif, S, Side, LE, Singer, CF, Stadler, Z, Steele, L, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teule, A, Thull, DL, Tischkowitz, M, Toland, AE, Tommasi, S, Toss, A, Trainer, AH, Tripathi, V, Valentini, V, van Asperen, CJ, Venturelli, M, Viel, A, Vijai, J, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Whaite, A, Zanna, I, Offit, K, Thomassen, M, Couch, FJ, Schmutzler, RK, Simard, J, Easton, DF, Chenevix-Trench, G, Antoniou, AC, and Ottini, L
- Abstract
BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHODS: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
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- 2022
24. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomaki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmana, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadalo, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Ronlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, Walker, LC, Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomaki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmana, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadalo, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Ronlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, and Walker, LC
- Abstract
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.
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- 2022
25. Paclitaxel Plus Cetuximab as Induction Chemotherapy for Patients With Locoregionally Advanced Head and Neck Squamous Cell Carcinoma Unfit for Cisplatin-Based Chemotherapy
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Marin-Jimenez, JA, Oliva, M, Martin, PP, Cabezas-Camarero, S, Serrahima, MP, Masedo, GV, Borbalas, AL, Martin, MNC, Esteve, A, Moreno, MCI, Altamis, EV, Hortiguela, LA, Sanz, MT, Perez-Segura, P, and Mesia, R
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paclitaxel ,cetuximab ,cisplatin ,Head and neck squamous cell carcinoma ,head and neck cancer ,unfit patient ,induction chemotherapy ,radiotherapy - Abstract
ObjectivesInduction chemotherapy (ICT) followed by definitive treatment is an accepted non-surgical approach for locoregionally advanced head and neck squamous cell carcinoma (LA-HNSCC). However, ICT remains a challenge for cisplatin-unfit patients. We evaluated paclitaxel and cetuximab (P-C) as ICT in a cohort of LA-HNSCC patients unfit for cisplatin. Materials and MethodsThis is a retrospective analysis of patients with newly diagnosed LA-HNSCC considered unfit for cisplatin-based chemotherapy (age >70 and/or ECOG >= 2 and/or comorbidities) treated with weekly P-C followed by definitive radiotherapy and cetuximab (RT-C) between 2010 and 2017. Toxicity and objective response rate (ORR) to ICT and RT-C were collected. Median overall survival (OS) and progression-free survival (PFS) were estimated using the Kaplan-Meier method. Cox regression analysis was performed to determine baseline predictors of OS and PFS. ResultsA total of 57 patients were included. Grade 3-4 toxicity rate to ICT was 54.4%, and there was a death deemed treatment-related (G5). P-C achieved an ORR of 66.7%, including 12.3% of complete responses (CR). After P-C, 45 patients (78.9%) continued with concomitant RT-C. Twenty-six patients (45.6%) achieved a CR after definitive treatment. With a median follow-up of 21.7 months (range 1.2-94.6), median OS and PFS were 22.9 months and 10.7 months, respectively. The estimated 2-year OS and PFS rates were 48.9% and 33.7%, respectively. Disease stage had a negative impact on OS (stage IVb vs. III-IVa: HR = 2.55 [1.08-6.04], p = 0.03), with a trend towards worse PFS (HR = 1.92 [0.91-4.05], p = 0.09). Primary tumor in the larynx was associated with improved PFS but not OS (HR = 0.45 [0.22-0.92], p = 0.03, and HR = 0.69 [0.32-1.54], p = 0.37, respectively). ConclusionP-C was a well-tolerated and active ICT regimen in this cohort of LA-HNSCC patients unfit for cisplatin-based chemotherapy. P-C might represent a valid ICT option for unfit patients and may aid patient selection for definitive treatment.
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- 2022
26. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
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Valenzuela-Palomo, A., Bueno-Martinez, E., Sanoguera-Miralles, L., Lorca, V., Fraile-Bethencourt, E., Esteban-Sanchez, A., Gomez-Barrero, S., Carvalho, S., Allen, J., Garcia-Alvarez, A., Perez-Segura, P., Dorling, L., Easton, D.F., Devilee, P., Vreeswijk, M.P.G., Hoya, M. de la, Velasco, E.A., European Commission, Ministerio de Ciencia e Innovación (España), Junta de Castilla y León, Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, Comunidad de Madrid, Easton, Douglas [0000-0003-2444-3247], de la Hoya, Miguel [0000-0002-8113-1410], Velasco, Eladio A [0000-0002-9682-5589], and Apollo - University of Cambridge Repository
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Susceptibility genes ,Breast Neoplasms ,Splicing ,Aberrant splicing ,aberrant splicing ,splicing ,Breast cancer ,Minigene ,breast cancer ,Databases, Genetic ,Biomarkers, Tumor ,Humans ,Protein Isoforms ,susceptibility genes ,minigene ,Functional assay ,Clinical interpretation ,Exons ,VUS ,clinical interpretation ,Alternative Splicing ,Case-Control Studies ,PALB2 ,MCF-7 Cells ,Female ,RNA Splice Sites ,Fanconi Anemia Complementation Group N Protein ,functional assay - Abstract
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here, we present a systematic functional analysis of PALB2 splice-site variants detected in ~113,000 women of the large-scale sequencing project BRIDGES (Breast Cancer After Diagnostic Gene Sequencing; https://bridges-research.eu/). Eighty-two PALB2 variants at the intron-exon boundaries were analyzed with MaxEntScan. Forty-two variants were selected for the subsequent splicing functional assays. For this purpose, three splicing reporter minigenes comprising exons 1-12 were constructed. The 42 potential spliceogenic variants were introduced into the minigenes by site-directed mutagenesis and assayed in MCF-7/MDA-MB-231 cells. Splicing anomalies were observed in 35 variants, 23 of which showed no traces or minimal amounts of the expected full-length transcripts of each minigene. More than 30 different variant-induced transcripts were characterized, 23 of which were predicted to truncate the PALB2 protein. The pathogenicity of all variants was interpreted according to an in-house adaptation of the ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) variant classification scheme. Up to 23 variants were classified as Pathogenic/Likely Pathogenic. Remarkably, three ±1,2 variants (c.49-2A>T, c.108+2T>C and c.211+1G>A) were classified as variants of unknown significance since they produced significant amounts of either in-frame transcripts of unknown impact on the PALB2 protein function or the minigene full-length transcripts. In conclusion, we have significantly contributed to the ongoing effort of identifying spliceogenic variants in the clinically relevant PALB2 cancer susceptibility gene. Moreover, we suggest some approaches to classify the findings in accordance with the ACMG/AMP rationale., PD, MPGV, DFE, MdlH, and EAV have received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement no. 634935. The laboratory of EAV is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I+D+I 2013-2016, ISCIII (PI17/00227 and PI20/00225) co-funded by FEDER from Regional Development European Funds (European Union) and from the Consejería de Educacion, Junta de Castilla y Leon, ref. CSI242P18 (actuacion cofinanciada P.O. FEDER 2014-2020 de Castilla y Leon). The laboratory of MdlH is supported by a grant from the Spanish Ministry of Science and Innovation, Plan Nacional de I+D+I 2013-2016, ISCIII (PI20/00110) co-funded by FEDER from Regional Development European Funds (European Union). Programa Estratégico Instituto de Biología y Genética Molecular (IBGM), Escalera de Excelencia, Junta de Castilla y León (ref. CLU-2019-02). AV-P is supported by a predoctoral fellowship from the Consejería de Educación, Junta de Castilla y León (2018–2022). LS-M is supported by a predoctoral fellowship from the AECC-Scientific Foundation, Sede Provincial de Valladolid (2019–2023). AE-S is supported through the Operational Program for Youth Employment and Youth Employment Initiative (YEI), called by the Community of Madrid in 2020, and co-financed by the European Social Fund.
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- 2021
27. Should we continue temozolomide beyond six cycles in the adjuvant treatment of glioblastoma without an evidence of clinical benefit? A cost analysis based on prescribing patterns in Spain
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Balañá, C., Vaz, M. A., Lopez, D., de la Peñas, R., García-Bueno, J. M., Molina-Garrido, M. J., Sepúlveda, J. M., Cano, J. M., Bugés, C., Sanz, S. M., Arranz, J. L., Perez-Segura, P., Rodriguez, A., Martin, J. M., Benavides, M., and Gil, M.
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- 2014
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28. 33P Relation of T-cell infiltration and PD-L1 expression with IDH and MGMT status in gliomas: Prognostic value and role for immunotherapy development
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Cabezas-Camarero, S., primary, Garcia-Barberan, V., additional, Casado-Fariñas, I., additional, Pérez-Alfayate, R., additional, Lopez Cade, I., additional, Tejerina-Peces, J., additional, and Perez-Segura, P., additional
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- 2021
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29. 34P Dynamic changes in plasma PD-L1 in patients with gliomas: Prognostic value and association with IDH status
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Cabezas-Camarero, S., primary, Garcia-Barberan, V., additional, Pérez-Alfayate, R., additional, Lopez Cade, I., additional, Tejerina-Peces, J., additional, Casado-Fariñas, I., additional, and Perez-Segura, P., additional
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- 2021
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30. 71P Safety and efficacy of salvage radiotherapy after progression to checkpoint inhibitors in recurrent and/or metastatic head and neck cancer
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Cabezas-Camarero, S., primary, Merino-Menendez, S., additional, Cabrera-Martin, M.N., additional, Cerezo-Druet, E., additional, Vazquez-Masedo, G., additional, Puebla, F., additional, Corona, J.A., additional, and Perez-Segura, P., additional
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- 2021
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31. Correction to: SEOM clinical guidelines for anaplastic gliomas (2017)
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Balañá, C., Alonso, M., Hernandez-Lain, A., Perez-Segura, P., Pineda, E., Ramos, A., Sanchez, A. R., Teixidor, P., Verger, E., and Benavides, M.
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- 2018
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32. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
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Im, Kate M., Kirchhoff, Tomas, Wang, Xianshu, Green, Todd, Chow, Clement Y., Vijai, Joseph, Korn, Joshua, Gaudet, Mia M., Fredericksen, Zachary, Shane Pankratz, V., Guiducci, Candace, Crenshaw, Andrew, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Mai, Phuong L., Greene, Mark H., Piedmonte, Marion, Rubinstein, Wendy S., Hogervorst, Frans B., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne E. J., Van Roozendaal, Cees E., Caldes, Trinidad, Perez-Segura, Pedro, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Blecharz, Paweł, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Barkardottir, Rosa B., Montagna, Marco, D’Andrea, Emma, Devilee, Peter, Olopade, Olufunmilayo I., Neuhausen, Susan L., Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Singer, Christian F., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda Ewart, Caligo, Maria Adelaide, Beattie, Mary S., Chan, Salina, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Phelan, Catherine, Narod, Steven, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary-Beth, Tung, Nadine, Hansen, Thomas v. O., Osorio, Ana, Benitez, Javier, Durán, Mercedes, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Paterson, Joan, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J., Porteous, Mary, Walker, Lisa, Rogers, Mark T., Side, Lucy E., Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Laitman, Yael, Meindl, Alfons, Deissler, Helmut, Varon-Mateeva, Raymonda, Preisler-Adams, Sabine, Kast, Karin, Venat-Bouvet, Laurence, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F., Klein, Robert J., Daly, Mark J., Friedman, Eitan, Dean, Michael, Clark, Andrew G., Altshuler, David M., Antoniou, Antonis C., Couch, Fergus J., Offit, Kenneth, Gold, Bert, HEBON, kConFab, Ontario Cancer Genetics Network, SWE-BRCA, UKFOCR, and EMBRACE
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- 2011
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33. Extended-schedule dose-dense temozolomide in refractory gliomas
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Berrocal, A., Perez Segura, P., Gil, M., Balaña, C., Garcia Lopez, J., Yaya, R., Rodríguez, J., Reynes, G., Gallego, O., Iglesias, L., and GENOM Cooperative Group
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- 2010
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34. Increased clinical and plasma EBV DNA responses to platinum-gemcitabine after nivolumab in patients with heavily platinum-pretreated nasopharyngeal cancer
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Cabezas-Camarero, S., Pérez-Alfayate, R., Puebla, F., Cabrera-Martín, M.N., and Pérez-Segura, P.
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- 2020
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35. 1171P Evaluation of the transcriptomic presence of tumor associated antigens (TAAs) from antibody drug conjugates (ADCs) and PD-L1 in melanoma: Options for new clinical opportunities
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Bartolome, J., Nieto-Jimenez, C., López de Sá, A., Diaz-Tejeiro, C., Antonanzas Basa, M., Aguado, C., Manzano Fernández, A., Pérez Segura, P., and Ocana Fernandez, A.
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- 2023
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36. 1061P Association of transcriptomic mapping of tumors with high expression of Tregs to identify surfaceome gene signatures with efficacy to check point inhibitors
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Noblejas Lopez, M.D.M., García-Gil, E., Pérez Segura, P., Gancarski, P., Martín, L., Pandiella, A., Gyorffy, B., and Ocana Fernandez, A.
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- 2023
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37. Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
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Joseph V., Easton D.F., Ejlertsen B., Engel C., Evans D.G., Feliubadalo L., Foretova L., Fostira F., Geczi L., Gerdes A.-M., Glendon G., Godwin A.K., Goldgar D.E., Hahnen E., Hogervorst F.B.L., Hopper J.L., Hulick P.J., Isaacs C., Izquierdo A., James P.A., Janavicius R., Jensen U.B., John E.M., Konstantopoulou I., Kurian A.W., Kwong A., Landucci E., Lesueur F., Loud J.T., Machackova E., Mai P.L., Majidzadeh-A K., Manoukian S., Montagna M., Moserle L., Mulligan A.M., Nathanson K.L., Nevanlinna H., Ngeow Yuen Ye J., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Osorio A., Papi L., Park S.K., Pedersen I.S., Perez-Segura P., Petersen A.H., Pinto P., Porfirio B., Pujana M.A., Radice P., Rantala J., Rashid M.U., Rosenzweig B., Rossing M., Santamarina M., Schmutzler R.K., Senter L., Simard J., Singer C.F., Solano A.R., Southey M.C., Steele L., Steinsnyder Z., Stoppa-Lyonnet D., Tan Y.Y., Teixeira M.R., Teo S.H., Terry M.B., Thomassen M., Toland A.E., Torres-Esquius S., Tung N., Van Asperen C.J., Vega A., Viel A., Vierstraete J., Wappenschmidt B., Weitzel J.N., Wieme G., Yoon S.-Y., Zorn K.K., Mcguffog L., Parsons M.T., Hamann U., Greene M.H., Kirk J.A., Neuhausen S.L., Rebbeck T.R., Tischkowitz M., Chenevix-Trench G., Antoniou A.C., Friedman E., Ottini L., Silvestri V., Leslie G., Barnes D.R., Agnarsson B.A., Aittomaki K., Alducci E., Andrulis I.L., Barkardottir R.B., Barroso A., Barrowdale D., Benitez J., Bonanni B., Borg A., Buys S.S., Caldes T., Caligo M.A., Capalbo C., Campbell I., Chung W.K., Claes K.B.M., Colonna S.V., Cortesi L., Couch F.J., De La Hoya M., Diez O., Ding Y.C., Domchek S., Joseph V., Easton D.F., Ejlertsen B., Engel C., Evans D.G., Feliubadalo L., Foretova L., Fostira F., Geczi L., Gerdes A.-M., Glendon G., Godwin A.K., Goldgar D.E., Hahnen E., Hogervorst F.B.L., Hopper J.L., Hulick P.J., Isaacs C., Izquierdo A., James P.A., Janavicius R., Jensen U.B., John E.M., Konstantopoulou I., Kurian A.W., Kwong A., Landucci E., Lesueur F., Loud J.T., Machackova E., Mai P.L., Majidzadeh-A K., Manoukian S., Montagna M., Moserle L., Mulligan A.M., Nathanson K.L., Nevanlinna H., Ngeow Yuen Ye J., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Osorio A., Papi L., Park S.K., Pedersen I.S., Perez-Segura P., Petersen A.H., Pinto P., Porfirio B., Pujana M.A., Radice P., Rantala J., Rashid M.U., Rosenzweig B., Rossing M., Santamarina M., Schmutzler R.K., Senter L., Simard J., Singer C.F., Solano A.R., Southey M.C., Steele L., Steinsnyder Z., Stoppa-Lyonnet D., Tan Y.Y., Teixeira M.R., Teo S.H., Terry M.B., Thomassen M., Toland A.E., Torres-Esquius S., Tung N., Van Asperen C.J., Vega A., Viel A., Vierstraete J., Wappenschmidt B., Weitzel J.N., Wieme G., Yoon S.-Y., Zorn K.K., Mcguffog L., Parsons M.T., Hamann U., Greene M.H., Kirk J.A., Neuhausen S.L., Rebbeck T.R., Tischkowitz M., Chenevix-Trench G., Antoniou A.C., Friedman E., Ottini L., Silvestri V., Leslie G., Barnes D.R., Agnarsson B.A., Aittomaki K., Alducci E., Andrulis I.L., Barkardottir R.B., Barroso A., Barrowdale D., Benitez J., Bonanni B., Borg A., Buys S.S., Caldes T., Caligo M.A., Capalbo C., Campbell I., Chung W.K., Claes K.B.M., Colonna S.V., Cortesi L., Couch F.J., De La Hoya M., Diez O., Ding Y.C., and Domchek S.
- Abstract
Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. Objective(s): To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers. Design, Setting, and Participant(s): Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected. Main Outcomes and Measures: BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. All odds ratios (ORs) were adjusted for age, country of origin, and calendar year of the first interview. Result(s): Among the 6902 men in the study (median [range] age, 51.6 [18-100] years), 1634 cancers were diagnosed in 1376 men (19.9%), the majority (922 of 1,376 [67%]) being BRCA2 PV carriers. Being affected by any cancer was associated with a higher probability of being a BRCA2, rather than a BRCA1, PV carrier (OR, 3.23; 95% CI, 2.81-3.70; P <.001), as well as developing 2 (OR, 7.97; 95% CI, 5.47-11.60; P <.001) and 3 (OR, 19.60; 95% CI, 4.64-82.89; P <.001) primary tumors. A higher frequency of breast (OR, 5.47; 95% CI, 4.06-7.37; P <.001) and prostate (OR, 1.39; 95% CI, 1.09-1.78; P =.008) cancers was associated with a higher probability of being a BRCA2 PV carrier. Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR, 3.00; 95% CI, 1.55-5.81; P =.001) and colorectal cancer with a lower probability (OR, 0.47; 95% CI, 0.29-0.78; P =.003) of being a BRCA2 PV carrier. Conclusions and Relevance: Significant differences in the cancer spectrum w
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- 2021
38. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
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Barnes D.R., Silvestri V., Leslie G., McGuffog L., Dennis J., Yang X., Adlard J., Agnarsson B.A., Ahmed M., Aittomaki K., Andrulis I.L., Arason A., Arnold N., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Barwell J., Belotti M., Benitez J., Berthet P., Boonen S.E., Borg A., Bozsik A., Brady A., Brennan P., Brewer C., Brunet J., Bucalo A., Buys S.S., Caldes T., Caligo M.A., Campbell I., Cassingham H., Lotte Christensen L., Cini G., Claes K.B.M., Cook J., Coppa A., Cortesi L., Damante G., Darder E., Davidson R., de la Hoya M., De Leeneer K., de Putter R., Del Valle J., Diez O., Chun Ding Y., Domchek S.M., Donaldson A., Eason J., Eeles R., Engel C., Gareth Evans D., Feliubadalo L., Fostira F., Frone M., Frost D., Gallagher D., Gehrig A., Giraud S., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gregory H., Gross E., Hahnen E., Hamann U., Hansen T.V.O., Hanson H., Hentschel J., Horvath J., Izatt L., Izquierdo A., James P.A., Janavicius R., Birk Jensen U., Johannsson O.T., John E.M., Kramer G., Kroeldrup L., Kruse T.A., Lautrup C., Lazaro C., Lesueur F., Lopez-Fernandez A., Mai P.L., Manoukian S., Matrai Z., Matricardi L., Maxwell K.N., Mebirouk N., Meindl A., Montagna M., Monteiro A.N., Morrison P.J., Muranen T.A., Murray A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nguyen-Dumont T., Niederacher D., Olah E., Olopade O.I., Palli D., Parsons M.T., Sokilde Pedersen I., Peissel B., Perez-Segura P., Peterlongo P., Petersen A.H., Pinto P., Porteous M.E., Pottinger C., Angel Pujana M., Radice P., Ramser J., Rantala J., Robson M., Rogers M.T., Ronlund K., Rump A., Maria Sanchez de Abajo A., Shah P.D., Sharif S., Side L.E., Singer C.F., Stadler Z., Steele L., Stoppa-Lyonnet D., Sutter C., Yen Tan Y., Teixeira M.R., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Tommasi S., Toss A., Trainer A.H., Tripathi V., Valentini V., van Asperen C.J., Venturelli M., Viel A., Vijai J., Walker L., Wang-Gohrke S., Wappenschmidt B., Whaite A., Zanna I., Offit K., Thomassen M., Couch F.J., Schmutzler R.K., Simard J., Easton D.F., Chenevix-Trench G., Antoniou A.C., Ottini L., Barnes D.R., Silvestri V., Leslie G., McGuffog L., Dennis J., Yang X., Adlard J., Agnarsson B.A., Ahmed M., Aittomaki K., Andrulis I.L., Arason A., Arnold N., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Barwell J., Belotti M., Benitez J., Berthet P., Boonen S.E., Borg A., Bozsik A., Brady A., Brennan P., Brewer C., Brunet J., Bucalo A., Buys S.S., Caldes T., Caligo M.A., Campbell I., Cassingham H., Lotte Christensen L., Cini G., Claes K.B.M., Cook J., Coppa A., Cortesi L., Damante G., Darder E., Davidson R., de la Hoya M., De Leeneer K., de Putter R., Del Valle J., Diez O., Chun Ding Y., Domchek S.M., Donaldson A., Eason J., Eeles R., Engel C., Gareth Evans D., Feliubadalo L., Fostira F., Frone M., Frost D., Gallagher D., Gehrig A., Giraud S., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gregory H., Gross E., Hahnen E., Hamann U., Hansen T.V.O., Hanson H., Hentschel J., Horvath J., Izatt L., Izquierdo A., James P.A., Janavicius R., Birk Jensen U., Johannsson O.T., John E.M., Kramer G., Kroeldrup L., Kruse T.A., Lautrup C., Lazaro C., Lesueur F., Lopez-Fernandez A., Mai P.L., Manoukian S., Matrai Z., Matricardi L., Maxwell K.N., Mebirouk N., Meindl A., Montagna M., Monteiro A.N., Morrison P.J., Muranen T.A., Murray A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nguyen-Dumont T., Niederacher D., Olah E., Olopade O.I., Palli D., Parsons M.T., Sokilde Pedersen I., Peissel B., Perez-Segura P., Peterlongo P., Petersen A.H., Pinto P., Porteous M.E., Pottinger C., Angel Pujana M., Radice P., Ramser J., Rantala J., Robson M., Rogers M.T., Ronlund K., Rump A., Maria Sanchez de Abajo A., Shah P.D., Sharif S., Side L.E., Singer C.F., Stadler Z., Steele L., Stoppa-Lyonnet D., Sutter C., Yen Tan Y., Teixeira M.R., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Tommasi S., Toss A., Trainer A.H., Tripathi V., Valentini V., van Asperen C.J., Venturelli M., Viel A., Vijai J., Walker L., Wang-Gohrke S., Wappenschmidt B., Whaite A., Zanna I., Offit K., Thomassen M., Couch F.J., Schmutzler R.K., Simard J., Easton D.F., Chenevix-Trench G., Antoniou A.C., and Ottini L.
- Abstract
BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHOD(S): 483 BRCA1 and 1,318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were three versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen-receptor (ER) negative (PRSER-) or ER-positive (PRSER+) breast cancer risk. RESULT(S): PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07-1.83) for BRCA1 and 1.33 (95% CI=1.16-1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for both BRCA1 (OR=1.73, 95% CI=1.28-2.33) and BRCA2 (OR=1.60, 95% CI=1.34-1.91) carriers. The estimated breast cancer ORs were larger after adjusting for female relative breast cancer family history. By age 85years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSION(S): Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and to inform clinical management.Copyright © The Author(s) 2021. Published by Oxford University Press.
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- 2021
39. A phase II randomized, multicenter, open-label trial of continuing adjuvant temozolomide beyond six cycles in patients with glioblastoma (GEINO 14-01)
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Balana C, Vaz M, Sepulveda J, Mesia C, Del Barco S, Pineda E, Munoz-Langa J, Estival A, de Las Penas R, Fuster J, Girones R, Navarro L, Gil-Gil M, Alonso M, Herrero A, Peralta S, Olier C, Perez-Segura P, Covela M, Martinez-Garcia M, Berrocal A, Gallego O, Luque R, Perez-Martin F, Esteve A, Munne N, Domenech M, Villa S, Sanz C, and Carrato C
- Subjects
MGMT methylation, extended adjuvant temozolomide, glioblastoma, prognosis - Abstract
BACKGROUND: Standard treatment for glioblastoma is radiation with concomitant and adjuvant temozolomide for six cycles, although the optimal number of cycles of adjuvant temozolomide has long been a subject of debate. We performed a phase II randomized, trial investigating whether extending adjuvant temozolomide for more than six cycles improved outcome.; METHODS: Glioblastoma patients treated at 20 Spanish hospitals who had not progressed after six cycles of adjuvant temozolomide were centrally randomized to stop (control arm) or continue (experimental arm) temozolomide up to a total of twelve cycles at the same doses they were receiving in cycle 6. Patients were stratified by MGMT methylation and measurable disease. The primary endpoint was differences in 6-month progression-free survival (PFS). Secondary endpoints were PFS, overall survival (OS) and safety. (Clinicaltrials.gov NCT02209948).; RESULTS: From August 2014 to November 2018, 166 patients were screened, seven of whom were ineligible. Seventy-nine patients were included in the stop arm and 80 in the experimental arm. All patients were included in the analyses of outcomes and of safety. There were no differences in 6-month PFS (control 55.7%; experimental 61.3%), PFS, or OS between arms. MGMT methylation and absence of measurable disease were independent factors of better outcome. Patients in the experimental arm had more lymphopenia (P < 0.001), thrombocytopenia (P < 0.001), and nausea and vomiting (P = 0.001).; CONCLUSIONS: Continuing temozolomide after six adjuvant cycles is associated with greater toxicity but confers no additional benefit in 6-month PFS. © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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- 2020
40. Characterisation and potential economic interest of authigenic zeolites in continental sediments from NW Mexico
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Cochemé, J. J., Lassauvagerie, A. C., Gonzalez-Sandoval, J., Perez-Segura, E., and Münch, P.
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- 1996
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41. Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness.
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Engel C., Schmutzler R.K., Schuster H., Senter L., Seynaeve C.M., Shah P.D., Sharma P., Shin V.Y., Silvestri V., Simard J., Singer C.F., Skytte A.-B., Snape K., Solano A.R., Soucy P., Southey M.C., Spurdle A.B., Steele L., Steinemann D., Stoppa-Lyonnet D., Stradella A., Sunde L., Sutter C., Tan Y.Y., Teixeira M.R., Teo S.H., Thomassen M., Tibiletti M.G., Tischkowitz M., Tognazzo S., Toland A.E., Tommasi S., Torres D., Toss A., Trainer A.H., Tung N., Van Asperen C.J., Van Der Baan F.H., Van Der Kolk L.E., Van Der Luijt R.B., Van Hest L.P., Varesco L., Varon-Mateeva R., Viel A., Vierstrate J., Villa R., Von Wachenfeldt A., Wagner P., Wang-Gohrke S., Wappenschmidt B., Weitzel J.N., Wieme G., Yadav S., Yannoukakos D., Yoon S.-Y., Zanzottera C., Zorn K.K., D'Amico A.V., Freedman M.L., Pomerantz M.M., Chenevix-Trench G., Antoniou A.C., Neuhausen S.L., Ottini L., Nielsen H.R., Rebbeck T.R., Patel V.L., Busch E.L., Friebel T.M., Cronin A., Leslie G., McGuffog L., Adlard J., Agata S., Agnarsson B.A., Ahmed M., Aittom K., Alducci E., Andrulis I.L., Arason A., Arnold N., Artioli G., Arver B., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barnes D.R., Barroso A., Barrowdale D., Belotti M., Benitez J., Bertelsen B., Blok M.J., Bodrogi I., Bonadona V., Bonanni B., Bondavalli D., Boonen S.E., Borde J., Borg A., Bradbury A.R., Brady A., Brewer C., Brunet J., Buecher B., Buys S.S., Cabezas-Camarero S., Caldes T., Caliebe A., Caligo M.A., Calvello M., Campbell I.G., Carnevali I., Carrasco E., Chan T.L., Chu A.T.W., Chung W.K., Claes K.B.M., Cook J., Cortesi L., Couch F.J., Daly M.B., Damante G., Darder E., Davidson R., De La Hoya M., Della Puppa L., Dennis J., Diez O., Ding Y.C., Ditsch N., Domchek S.M., Donaldson A., Dworniczak B., Easton D.F., Eccles D.M., Eeles R.A., Ehrencrona H., Ejlertsen B., Evans D.G., Faivre L., Faust U., Feliubadalo L., Foretova L., Fostira F., Fountzilas G., Frost D., Garcia-Barberan V., Garre P., Gauthier-Villars M., Geczi L., Gehrig A., Gerdes A.-M., Gesta P., Giannini G., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gutierrez-Barrera A.M., Hahnen E., Hamann U., Hauke J., Herold N., Hogervorst F.B.L., Honisch E., Hopper J.L., Hulick P.J., Izatt L., Jager A., James P., Janavicius R., Jensen U.B., Jensen T.D., Johannsson O.Th., John E.M., Joseph V., Kang E., Kast K., Kiiski J.I., Kim S.-W., Kim Z., Ko K.-P., Konstantopoulou I., Kramer G., Krogh L., Kruse T.A., Kwong A., Larsen M., Lasset C., Lautrup C., Lazaro C., Lee J., Lee J.W., Lee M.H., Lemke J., Lesueur F., Liljegren A., Lindblom A., Llovet P., Lopez-Fernandez A., Lopez-Perolio I., Lorca V., Loud J.T., Ma E.S.K., Mai P.L., Manoukian S., Mari V., Martin L., Matricardi L., Mebirouk N., Medici V., Meijers-Heijboer H.E.J., Meindl A., Mensenkamp A.R., Miller C., Gomes D.M., Montagna M., Mooij T.M., Moserle L., Mouret-Fourme E., Mulligan A.M., Nathanson K.L., Navratilova M., Nevanlinna H., Niederacher D., Cilius Nielsen F.C., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Ong K.-R., Osorio A., Ott C.-E., Palli D., Park S.K., Parsons M.T., Pedersen I.S., Peissel B., Peixoto A., Perez-Segura P., Peterlongo P., Petersen A.H., Porteous M.E., Pujana M.A., Radice P., Ramser J., Rantala J., Rashid M.U., Rhiem K., Rizzolo P., Robson M.E., Rookus M.A., Rossing C.M., Ruddy K.J., Santos C., Saule C., Scarpitta R., Engel C., Schmutzler R.K., Schuster H., Senter L., Seynaeve C.M., Shah P.D., Sharma P., Shin V.Y., Silvestri V., Simard J., Singer C.F., Skytte A.-B., Snape K., Solano A.R., Soucy P., Southey M.C., Spurdle A.B., Steele L., Steinemann D., Stoppa-Lyonnet D., Stradella A., Sunde L., Sutter C., Tan Y.Y., Teixeira M.R., Teo S.H., Thomassen M., Tibiletti M.G., Tischkowitz M., Tognazzo S., Toland A.E., Tommasi S., Torres D., Toss A., Trainer A.H., Tung N., Van Asperen C.J., Van Der Baan F.H., Van Der Kolk L.E., Van Der Luijt R.B., Van Hest L.P., Varesco L., Varon-Mateeva R., Viel A., Vierstrate J., Villa R., Von Wachenfeldt A., Wagner P., Wang-Gohrke S., Wappenschmidt B., Weitzel J.N., Wieme G., Yadav S., Yannoukakos D., Yoon S.-Y., Zanzottera C., Zorn K.K., D'Amico A.V., Freedman M.L., Pomerantz M.M., Chenevix-Trench G., Antoniou A.C., Neuhausen S.L., Ottini L., Nielsen H.R., Rebbeck T.R., Patel V.L., Busch E.L., Friebel T.M., Cronin A., Leslie G., McGuffog L., Adlard J., Agata S., Agnarsson B.A., Ahmed M., Aittom K., Alducci E., Andrulis I.L., Arason A., Arnold N., Artioli G., Arver B., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barnes D.R., Barroso A., Barrowdale D., Belotti M., Benitez J., Bertelsen B., Blok M.J., Bodrogi I., Bonadona V., Bonanni B., Bondavalli D., Boonen S.E., Borde J., Borg A., Bradbury A.R., Brady A., Brewer C., Brunet J., Buecher B., Buys S.S., Cabezas-Camarero S., Caldes T., Caliebe A., Caligo M.A., Calvello M., Campbell I.G., Carnevali I., Carrasco E., Chan T.L., Chu A.T.W., Chung W.K., Claes K.B.M., Cook J., Cortesi L., Couch F.J., Daly M.B., Damante G., Darder E., Davidson R., De La Hoya M., Della Puppa L., Dennis J., Diez O., Ding Y.C., Ditsch N., Domchek S.M., Donaldson A., Dworniczak B., Easton D.F., Eccles D.M., Eeles R.A., Ehrencrona H., Ejlertsen B., Evans D.G., Faivre L., Faust U., Feliubadalo L., Foretova L., Fostira F., Fountzilas G., Frost D., Garcia-Barberan V., Garre P., Gauthier-Villars M., Geczi L., Gehrig A., Gerdes A.-M., Gesta P., Giannini G., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gutierrez-Barrera A.M., Hahnen E., Hamann U., Hauke J., Herold N., Hogervorst F.B.L., Honisch E., Hopper J.L., Hulick P.J., Izatt L., Jager A., James P., Janavicius R., Jensen U.B., Jensen T.D., Johannsson O.Th., John E.M., Joseph V., Kang E., Kast K., Kiiski J.I., Kim S.-W., Kim Z., Ko K.-P., Konstantopoulou I., Kramer G., Krogh L., Kruse T.A., Kwong A., Larsen M., Lasset C., Lautrup C., Lazaro C., Lee J., Lee J.W., Lee M.H., Lemke J., Lesueur F., Liljegren A., Lindblom A., Llovet P., Lopez-Fernandez A., Lopez-Perolio I., Lorca V., Loud J.T., Ma E.S.K., Mai P.L., Manoukian S., Mari V., Martin L., Matricardi L., Mebirouk N., Medici V., Meijers-Heijboer H.E.J., Meindl A., Mensenkamp A.R., Miller C., Gomes D.M., Montagna M., Mooij T.M., Moserle L., Mouret-Fourme E., Mulligan A.M., Nathanson K.L., Navratilova M., Nevanlinna H., Niederacher D., Cilius Nielsen F.C., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Ong K.-R., Osorio A., Ott C.-E., Palli D., Park S.K., Parsons M.T., Pedersen I.S., Peissel B., Peixoto A., Perez-Segura P., Peterlongo P., Petersen A.H., Porteous M.E., Pujana M.A., Radice P., Ramser J., Rantala J., Rashid M.U., Rhiem K., Rizzolo P., Robson M.E., Rookus M.A., Rossing C.M., Ruddy K.J., Santos C., Saule C., and Scarpitta R.
- Abstract
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR 1/4 1.78; 95% confidence interval (CI), 1.25-2.52; P 1/4 0.001], as well as elevated risk of Gleason 8 prostate cancer (HR 1/4 3.11; 95% CI, 1.63-5.95; P 1/4 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR 1/4 2.83; 95% CI, 1.71-4.68; P 1/4 0.00004) and elevated risk of Gleason 8 prostate cancer (HR 1/4 4.95; 95% CI, 2.12-11.54; P 1/4 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer.Copyright © 2020 American Association for Cancer Research.
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- 2020
42. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
- Author
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Patel, VL, Busch, EL, Friebel, TM, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, BA, Ahmed, M, Aittomaki, K, Alducci, E, Andrulis, IL, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmana, J, Barkardottir, RB, Barnes, DR, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, MJ, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, SE, Borde, J, Borg, A, Bradbury, AR, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, SS, Cabezas-Camarero, S, Caldes, T, Caliebe, A, Caligo, MA, Calvello, M, Campbell, IG, Carnevali, I, Carrasco, E, Chan, TL, Chu, ATW, Chung, WK, Claes, KBM, Cook, J, Cortesi, L, Couch, FJ, Daly, MB, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Diez, O, Ding, YC, Ditsch, N, Domchek, SM, Donaldson, A, Dworniczak, B, Easton, DF, Eccles, DM, Eeles, RA, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, DG, Faivre, L, Faust, U, Feliubadalo, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, Garcia-Barberan, V, Garre, P, Gauthier-Villars, M, Geczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gutierrez-Barrera, AM, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, FBL, Honisch, E, Hopper, JL, Hulick, PJ, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, UB, Jensen, TD, Johannsson, OT, John, EM, Joseph, V, Kang, E, Kast, K, Kiiski, J, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, TA, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, JW, Lee, MH, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernandez, A, Lopez-Perolio, I, Lorca, V, Loud, JT, Ma, ESK, Mai, PL, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Miller, C, Gomes, DM, Montagna, M, Mooij, TM, Moserle, L, Mouret-Fourme, E, Mulligan, AM, Nathanson, KL, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, FCC, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, SK, Parsons, MT, Pedersen, IS, Peissel, B, Peixoto, A, Perez-Segura, P, Peterlongo, P, Petersen, AH, Porteous, ME, Angel Pujana, M, Radice, P, Ramser, J, Rantala, J, Rashid, MU, Rhiem, K, Rizzolo, P, Robson, ME, Rookus, MA, Rossing, CM, Ruddy, KJ, Santos, C, Saule, C, Scarpitta, R, Schmutzler, RK, Schuster, H, Senter, L, Seynaeve, CM, Shah, PD, Sharma, P, Shin, VY, Silvestri, V, Simard, J, Singer, CF, Skytte, A-B, Snape, K, Solano, AR, Soucy, P, Southey, MC, Spurdle, AB, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Tibiletti, MG, Tischkowitz, M, Tognazzo, S, Toland, AE, Tommasi, S, Torres, D, Toss, A, Trainer, AH, Tung, N, van Asperen, CJ, van der Baan, FH, van der Kolk, LE, van der Luijt, RB, van Hest, LP, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, JN, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, KK, D'Amico, A, Freedman, ML, Pomerantz, MM, Chenevix-Trench, G, Antoniou, AC, Neuhausen, SL, Ottini, L, Nielsen, HR, Rebbeck, TR, Patel, VL, Busch, EL, Friebel, TM, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, BA, Ahmed, M, Aittomaki, K, Alducci, E, Andrulis, IL, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmana, J, Barkardottir, RB, Barnes, DR, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, MJ, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, SE, Borde, J, Borg, A, Bradbury, AR, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, SS, Cabezas-Camarero, S, Caldes, T, Caliebe, A, Caligo, MA, Calvello, M, Campbell, IG, Carnevali, I, Carrasco, E, Chan, TL, Chu, ATW, Chung, WK, Claes, KBM, Cook, J, Cortesi, L, Couch, FJ, Daly, MB, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Diez, O, Ding, YC, Ditsch, N, Domchek, SM, Donaldson, A, Dworniczak, B, Easton, DF, Eccles, DM, Eeles, RA, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, DG, Faivre, L, Faust, U, Feliubadalo, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, Garcia-Barberan, V, Garre, P, Gauthier-Villars, M, Geczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, AK, Goldgar, DE, Greene, MH, Gutierrez-Barrera, AM, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, FBL, Honisch, E, Hopper, JL, Hulick, PJ, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, UB, Jensen, TD, Johannsson, OT, John, EM, Joseph, V, Kang, E, Kast, K, Kiiski, J, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, TA, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, JW, Lee, MH, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernandez, A, Lopez-Perolio, I, Lorca, V, Loud, JT, Ma, ESK, Mai, PL, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Miller, C, Gomes, DM, Montagna, M, Mooij, TM, Moserle, L, Mouret-Fourme, E, Mulligan, AM, Nathanson, KL, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, FCC, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, SK, Parsons, MT, Pedersen, IS, Peissel, B, Peixoto, A, Perez-Segura, P, Peterlongo, P, Petersen, AH, Porteous, ME, Angel Pujana, M, Radice, P, Ramser, J, Rantala, J, Rashid, MU, Rhiem, K, Rizzolo, P, Robson, ME, Rookus, MA, Rossing, CM, Ruddy, KJ, Santos, C, Saule, C, Scarpitta, R, Schmutzler, RK, Schuster, H, Senter, L, Seynaeve, CM, Shah, PD, Sharma, P, Shin, VY, Silvestri, V, Simard, J, Singer, CF, Skytte, A-B, Snape, K, Solano, AR, Soucy, P, Southey, MC, Spurdle, AB, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Tibiletti, MG, Tischkowitz, M, Tognazzo, S, Toland, AE, Tommasi, S, Torres, D, Toss, A, Trainer, AH, Tung, N, van Asperen, CJ, van der Baan, FH, van der Kolk, LE, van der Luijt, RB, van Hest, LP, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, JN, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, KK, D'Amico, A, Freedman, ML, Pomerantz, MM, Chenevix-Trench, G, Antoniou, AC, Neuhausen, SL, Ottini, L, Nielsen, HR, and Rebbeck, TR
- Abstract
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
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- 2020
43. 1708P SMARCA4/SMARCB1 alterations detected through tissue comprehensive genomic profiling (CGP): A single-center study of prevalence and clinical characteristics
- Author
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Bartolomé Arcilla, J., Fernandez-Hinojal, G., Manzano Fernández, A., Paz Cabezas, M., Ocana Fernandez, A., and Pérez Segura, P.
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- 2022
- Full Text
- View/download PDF
44. 678P Real-world evidence of first-line cetuximab (CX) plus paclitaxel (PX) in recurrent or metastatic squamous cell carcinoma of the head and neck (SCCHN)
- Author
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Cirauqui Cirauqui, B., Martinez Trufero, J., Plana Serrahima, M., García Castaño, A., Rubió-Casadevall, J., Carral Maseda, A., Iglesias Docampo, L., Pérez Segura, P., Ceballos Lenza, I., Gutierrez Calderon, V., Fuster Salva, J., Pena Álvarez, C., Arrazubi Arrula, V., del Barco Morillo, E., Chaves Conde, M., Martínez Galán, J., Durán Sánchez, M., Quiroga, V., Ortega, E., and Mesia Nin, R.
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- 2022
- Full Text
- View/download PDF
45. 279O ctDNA detection in cerebrospinal fluid and concordance with the primary tumor in a multicenter prospective study of patients with glioma
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Cabezas-Camarero, S., Pérez-Alfayate, R., García-Barberán, V., Gandía, M., García-Feijóo, P., López-Cade, I., Casado-Fariñas, I., Cerón, N., Sotelo Lezama, M.J., and Pérez Segura, P.
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- 2022
- Full Text
- View/download PDF
46. A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes
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Caldes, T, de la Hoya, M, Tosar, A, Sulleiro, S, Godino, J, Ibañez, D, Martin, M, Perez-Segura, P, and Diaz-Rubio, E
- Published
- 2002
47. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families
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Kauff, N D, Perez-Segura, P, Robson, M E, Scheuer, L, Siegel, B, Schluger, A, Rapaport, B, Frank, T S, Nafa, K, Ellis, N A, Parmigiani, G, and Offit, K
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- 2002
48. Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. (Original Article)
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Hoya, M. de la, Diez, O., Perez-Segura, P., Godino, J., Fernandez, J.M., Sanz, J., Alonso, C., Baiget, M., Diaz-Rubio, E., and Caldes, T.
- Subjects
Genetic aspects ,DNA identification -- Genetic aspects ,Breast cancer -- Genetic aspects ,Ovarian cancer -- Genetic aspects ,DNA testing -- Genetic aspects - Abstract
Objective: To test whether statistical models developed to calculate pre-test probability of being a BRCA 1/2 carrier can differentiate better between the breast/ovarian families to be referred to the DNA [...]
- Published
- 2003
49. Randomized phase IIb clinical trial of continuation or non-continuation with six cycles of temozolomide after the first six cycles of standard first-line treatment in patients with glioblastoma: A Spanish research group in neuro-oncology (GEINO) trial
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Balana C, Barroso C, Berron S, Losada E, Munoz-Langa J, Estival A, De las Penas R, Fuster J, Gil M, Navarro L, Alonso M, Herrero A, Salgado M, Peralta S, Olier C, Perez-Segura P, Rua M, Carrato C, Sanz C, and Sepulveda-Sanchez J
- Published
- 2019
50. EXTENDING ADJUVANT TEMOZOLOMIDE LONGER THAN SIX CYCLES DOESN'T ADD ANY BENEFIT TO GLIOBLASTOMA PATIENTS ACCORDING TO THE RANDOMIZED GEINO-014 TRIAL
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Balana, C, Sepulveda, J, Pineda, E, Vaz, M, Mesia, C, Fuster, J, Girones, R, Munoz-Langa, J, Navarro, M, Alonso, M, Gil, MG, Herrero, A, Estival, A, Gallego, O, Peralta, S, Olier, C, Perez-Segura, P, Covela, M, Garcia, MM, Domenech, M, Carrato, C, Sanz, C, Velarde, J, Berrocal, A, Luque, R, De las Penas, R, and Del Barco, S
- Published
- 2019
Catalog
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