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3. Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community

Author

Fernández-Ramires, Ricardo, Morales-Pison, Sebastián, Rucatti, Guilherme Gischkow, Echeverría, César, San Martín, Esteban, Cammarata-Scalisi, Francisco, Salas-Burgos, Alexis, Adorno-Farias, Daniela, González-Arriagada, Wilfredo Alejandro, Espinosa-Parrilla, Yolanda, Zapata-Contreras, Daniela, Norese, Gabriela, Lázaro, Conxi, González, Sara, Pujana, Miguel Angel, Sullcahuaman, Yasser, and Margarit, Sonia

Published
2024
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5. Tumour DDR1 promotes collagen fibre alignment to instigate immune exclusion

Author

Sun, Xiujie, Wu, Bogang, Chiang, Huai-Chin, Deng, Hui, Zhang, Xiaowen, Xiong, Wei, Liu, Junquan, Rozeboom, Aaron M., Harris, Brent T., Blommaert, Eline, Gomez, Antonio, Garcia, Roderic Espin, Zhou, Yufan, Mitra, Payal, Prevost, Madeleine, Zhang, Deyi, Banik, Debarati, Isaacs, Claudine, Berry, Deborah, Lai, Catherine, Chaldekas, Krysta, Latham, Patricia S., Brantner, Christine A., Popratiloff, Anastas, Jin, Victor X., Zhang, Ningyan, Hu, Yanfen, Pujana, Miguel Angel, Curiel, Tyler J., An, Zhiqiang, and Li, Rong

Published
2021
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6. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

Published
2016

7. A rise in double-strand breaks sensitizes tumours to oxidative metabolism inhibitors

Author

Medina-Jover, Ferran, primary, Figueras, Agnes, additional, Lahiguera, Alvaro, additional, Guillen, Pau, additional, Espin, Roderic, additional, Pardo, Miguel Angel, additional, Pujana, Miguel Angel, additional, Berra, Edurne, additional, Villanueva, Alberto, additional, Bernat, Adria, additional, Romeo, Margarita, additional, Perales, Jose Carlos, additional, and Vinals, Francesc, additional

Published
2023
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8. Human Chromosome 7: DNA Sequence and Biology

Author

Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., and Tsui, Lap-Chee

Published
2003

9. Supplementary Data from Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., primary, Ma, Zhibo, primary, Liang, Minggao, primary, Uuskula-Reimand, Liis, primary, Espin, Roderic, primary, Teng, Katie, primary, Malik, Ahmad, primary, Bergholtz, Helga, primary, Ghamrasni, Samah El, primary, Afiuni-Zadeh, Somaieh, primary, Tsai, Ricky, primary, Alvi, Sana, primary, Elia, Andrew, primary, Lü, YiQing, primary, Oh, Robin H., primary, Kozma, Katelyn J., primary, Trcka, Daniel, primary, Narimatsu, Masahiro, primary, Liu, Jeff C., primary, Nguyen, Thomas, primary, Barutcu, Seda, primary, Loganathan, Sampath K., primary, Bremner, Rod, primary, Bader, Gary D., primary, Egan, Sean E., primary, Cescon, David W., primary, Sørlie, Therese, primary, Wrana, Jeffrey L., primary, Jackson, Hartland W., primary, Wilson, Michael D., primary, Witkiewicz, Agnieszka K., primary, Knudsen, Erik S., primary, Pujana, Miguel Angel, primary, Wahl, Geoffrey M., primary, and Schramek, Daniel, primary

Published
2023
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10. Data from Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., primary, Ma, Zhibo, primary, Liang, Minggao, primary, Uuskula-Reimand, Liis, primary, Espin, Roderic, primary, Teng, Katie, primary, Malik, Ahmad, primary, Bergholtz, Helga, primary, Ghamrasni, Samah El, primary, Afiuni-Zadeh, Somaieh, primary, Tsai, Ricky, primary, Alvi, Sana, primary, Elia, Andrew, primary, Lü, YiQing, primary, Oh, Robin H., primary, Kozma, Katelyn J., primary, Trcka, Daniel, primary, Narimatsu, Masahiro, primary, Liu, Jeff C., primary, Nguyen, Thomas, primary, Barutcu, Seda, primary, Loganathan, Sampath K., primary, Bremner, Rod, primary, Bader, Gary D., primary, Egan, Sean E., primary, Cescon, David W., primary, Sørlie, Therese, primary, Wrana, Jeffrey L., primary, Jackson, Hartland W., primary, Wilson, Michael D., primary, Witkiewicz, Agnieszka K., primary, Knudsen, Erik S., primary, Pujana, Miguel Angel, primary, Wahl, Geoffrey M., primary, and Schramek, Daniel, primary

Published
2023
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11. Data from A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

Author

Fernández-Rodríguez, Juana, primary, Creus-Bachiller, Edgar, primary, Zhang, Xiaohu, primary, Martínez-Iniesta, Maria, primary, Ortega-Bertran, Sara, primary, Guha, Rajarshi, primary, Thomas, Craig J., primary, Wallace, Margaret R., primary, Romagosa, Cleofe, primary, Salazar-Huayna, Lourdes, primary, Reilly, Karlyne M., primary, Blakely, Jaishri O., primary, Serra-Musach, Jordi, primary, Pujana, Miguel Angel, primary, Serra, Eduard, primary, Villanueva, Alberto, primary, Ferrer, Marc, primary, and Lázaro, Conxi, primary

Published
2023
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12. Supplementary Table from A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

Author

Fernández-Rodríguez, Juana, primary, Creus-Bachiller, Edgar, primary, Zhang, Xiaohu, primary, Martínez-Iniesta, Maria, primary, Ortega-Bertran, Sara, primary, Guha, Rajarshi, primary, Thomas, Craig J., primary, Wallace, Margaret R., primary, Romagosa, Cleofe, primary, Salazar-Huayna, Lourdes, primary, Reilly, Karlyne M., primary, Blakely, Jaishri O., primary, Serra-Musach, Jordi, primary, Pujana, Miguel Angel, primary, Serra, Eduard, primary, Villanueva, Alberto, primary, Ferrer, Marc, primary, and Lázaro, Conxi, primary

Published
2023
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13. Supplementary Figure from A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

Author

Fernández-Rodríguez, Juana, primary, Creus-Bachiller, Edgar, primary, Zhang, Xiaohu, primary, Martínez-Iniesta, Maria, primary, Ortega-Bertran, Sara, primary, Guha, Rajarshi, primary, Thomas, Craig J., primary, Wallace, Margaret R., primary, Romagosa, Cleofe, primary, Salazar-Huayna, Lourdes, primary, Reilly, Karlyne M., primary, Blakely, Jaishri O., primary, Serra-Musach, Jordi, primary, Pujana, Miguel Angel, primary, Serra, Eduard, primary, Villanueva, Alberto, primary, Ferrer, Marc, primary, and Lázaro, Conxi, primary

Published
2023
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14. Supplementary Figure S1 from Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Author

Gómez-Miragaya, Jorge, primary, Díaz-Navarro, Ander, primary, Tonda, Raul, primary, Beltran, Sergi, primary, Palomero, Luis, primary, Palafox, Marta, primary, Dobrolecki, Lacey E., primary, Huang, Chen, primary, Vasaikar, Suhas, primary, Zhang, Bing, primary, Wulf, Gerburg M., primary, Collado-Sole, Alejandro, primary, Trinidad, Eva M., primary, Muñoz, Purificación, primary, Paré, Laia, primary, Prat, Aleix, primary, Bruna, Alejandra, primary, Caldas, Carlos, primary, Arribas, Joaquín, primary, Soler-Monso, María Teresa, primary, Petit, Anna, primary, Balmaña, Judith, primary, Cruz, Cristina, primary, Serra, Violeta, primary, Pujana, Miguel Angel, primary, Lewis, Michael T., primary, Puente, Xose S., primary, and González-Suárez, Eva, primary

Published
2023
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15. Supplementary Methods and References from RANK Signaling Blockade Reduces Breast Cancer Recurrence by Inducing Tumor Cell Differentiation

Author

Yoldi, Guillermo, primary, Pellegrini, Pasquale, primary, Trinidad, Eva M., primary, Cordero, Alex, primary, Gomez-Miragaya, Jorge, primary, Serra-Musach, Jordi, primary, Dougall, William C., primary, Muñoz, Purificación, primary, Pujana, Miguel-Angel, primary, Planelles, Lourdes, primary, and González-Suárez, Eva, primary

Published
2023
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16. Supplementary Figure S3 from RANK Signaling Blockade Reduces Breast Cancer Recurrence by Inducing Tumor Cell Differentiation

Author

Yoldi, Guillermo, primary, Pellegrini, Pasquale, primary, Trinidad, Eva M., primary, Cordero, Alex, primary, Gomez-Miragaya, Jorge, primary, Serra-Musach, Jordi, primary, Dougall, William C., primary, Muñoz, Purificación, primary, Pujana, Miguel-Angel, primary, Planelles, Lourdes, primary, and González-Suárez, Eva, primary

Published
2023
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17. Supplementary Table S1 from RANK Signaling Blockade Reduces Breast Cancer Recurrence by Inducing Tumor Cell Differentiation

Author

Yoldi, Guillermo, primary, Pellegrini, Pasquale, primary, Trinidad, Eva M., primary, Cordero, Alex, primary, Gomez-Miragaya, Jorge, primary, Serra-Musach, Jordi, primary, Dougall, William C., primary, Muñoz, Purificación, primary, Pujana, Miguel-Angel, primary, Planelles, Lourdes, primary, and González-Suárez, Eva, primary

Published
2023
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19. Supplementary Table and Figure Legends from RANK Signaling Blockade Reduces Breast Cancer Recurrence by Inducing Tumor Cell Differentiation

Author

Yoldi, Guillermo, primary, Pellegrini, Pasquale, primary, Trinidad, Eva M., primary, Cordero, Alex, primary, Gomez-Miragaya, Jorge, primary, Serra-Musach, Jordi, primary, Dougall, William C., primary, Muñoz, Purificación, primary, Pujana, Miguel-Angel, primary, Planelles, Lourdes, primary, and González-Suárez, Eva, primary

Published
2023
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20. Loss of Epigenetic Regulation Disrupts Lineage Integrity, Induces Aberrant Alveogenesis, and Promotes Breast Cancer

Author

Langille, Ellen, primary, Al-Zahrani, Khalid N., additional, Ma, Zhibo, additional, Liang, Minggao, additional, Uuskula-Reimand, Liis, additional, Espin, Roderic, additional, Teng, Katie, additional, Malik, Ahmad, additional, Bergholtz, Helga, additional, Ghamrasni, Samah El, additional, Afiuni-Zadeh, Somaieh, additional, Tsai, Ricky, additional, Alvi, Sana, additional, Elia, Andrew, additional, Lü, YiQing, additional, Oh, Robin H., additional, Kozma, Katelyn J., additional, Trcka, Daniel, additional, Narimatsu, Masahiro, additional, Liu, Jeff C., additional, Nguyen, Thomas, additional, Barutcu, Seda, additional, Loganathan, Sampath K., additional, Bremner, Rod, additional, Bader, Gary D., additional, Egan, Sean E., additional, Cescon, David W., additional, Sørlie, Therese, additional, Wrana, Jeffrey L., additional, Jackson, Hartland W., additional, Wilson, Michael D., additional, Witkiewicz, Agnieszka K., additional, Knudsen, Erik S., additional, Pujana, Miguel Angel, additional, Wahl, Geoffrey M., additional, and Schramek, Daniel, additional

Published
2022
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21. Study of breast cancer incidence in patients of lymphangioleiomyomatosis

Author

Nuñez, Olivier, Román, Antonio, Johnson, Simon R., Inoue, Yoshikazu, Hirose, Masaki, Casanova, Álvaro, de Garibay, Gorka Ruiz, Herranz, Carmen, Bueno-Moreno, Gema, Boni, Jacopo, Mateo, Francesca, Petit, Anna, Climent, Fina, Soler, Teresa, Vidal, August, Sánchez-Mut, José Vicente, Esteller, Manel, López, José Ignacio, García, Nadia, Gumà, Anna, Ortega, Raúl, Plà, María Jesús, Campos, Miriam, Ansótegui, Emilio, Molina-Molina, María, Valenzuela, Claudia, Ussetti, Piedad, Laporta, Rosalía, Ancochea, Julio, Xaubet, Antoni, Pollán, Marina, and Pujana, Miguel Angel

Published
2016
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22. Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine

Author

Castellsagué, Joan, Gel, Bernat, Fernández‐Rodríguez, Juana, Llatjós, Roger, Blanco, Ignacio, Benavente, Yolanda, Pérez‐Sidelnikova, Diana, García‐del Muro, Javier, Viñals, Joan Maria, Vidal, August, Valdés‐Mas, Rafael, Terribas, Ernest, López‐Doriga, Adriana, Pujana, Miguel Angel, Capellá, Gabriel, Puente, Xose S, Serra, Eduard, Villanueva, Alberto, and Lázaro, Conxi

Published
2015
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23. A High-Throughput Screening Platform Identifies Novel Combination Treatments for Malignant Peripheral Nerve Sheath Tumors

Author

Fernández-Rodríguez, Juana, primary, Creus-Bachiller, Edgar, additional, Zhang, Xiaohu, additional, Martínez-Iniesta, Maria, additional, Ortega-Bertran, Sara, additional, Guha, Rajarshi, additional, Thomas, Craig J., additional, Wallace, Margaret R., additional, Romagosa, Cleofe, additional, Salazar-Huayna, Lourdes, additional, Reilly, Karlyne M., additional, Blakely, Jaishri O., additional, Serra-Musach, Jordi, additional, Pujana, Miguel Angel, additional, Serra, Eduard, additional, Villanueva, Alberto, additional, Ferrer, Marc, additional, and Lázaro, Conxi, additional

Published
2022
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24. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Author

Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, DallʼOlio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Puppa, Lara Della, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmaña, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Pujana, Miguel Angel, Lázaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., and Radice, Paolo

Published
2015
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25. Long-term results of sirolimus treatment in lymphangioleiomyomatosis : a single referral centre experience

Author

Revilla-López, Eva, Berastegui García, Cristina, Méndez, Alejandra, Sáez-Giménez, Berta, Ruiz de Miguel, Victoria, López-Meseguer, Manuel, Monforte, Victor, Bravo, Carlos, Pujana, Miguel Angel, Ramon, Maria Antonia, Gómez-Ollés, Susana, Roman, Antonio, Universitat Autònoma de Barcelona, Revilla-López, Eva, Berastegui García, Cristina, Méndez, Alejandra, Sáez-Giménez, Berta, Ruiz de Miguel, Victoria, López-Meseguer, Manuel, Monforte, Victor, Bravo, Carlos, Pujana, Miguel Angel, Ramon, Maria Antonia, Gómez-Ollés, Susana, Roman, Antonio, and Universitat Autònoma de Barcelona

Abstract

There are few published data on long-term treatment with sirolimus in lymphangioleiomyomatosis (LAM). The objective of this study was to describe the long-term effect of sirolimus in a series of LAM patients followed up in a referral centre, focusing on pulmonary function. We retrospectively reviewed a series of 48 patients with LAM diagnosed, followed up and treated with sirolimus in a single centre. Response to sirolimus was evaluated at 1 and 5 years. A negative sirolimus response was defined as an FEV decline greater than − 75 ml/year. A mixed-effects model was used to estimate the longitudinal changes in FEV (average slope), both as absolute (ml/year) and as predicted values (%predicted/year). From a total of 48 patients, 9 patients underwent lung transplantation and 4 died during the study. Mean (95% CI) FEV slope over 5 years was − 0.14 (− 26.13 to 25.85) ml/year in the whole LAM group, 42.55 (14.87 to 70.22) ml/year in the responder group, − 54.00 (− 71.60 to − 36.39) ml/year in the partial responder group and − 84.19 (− 113.5 to − 54.0) ml/year in the non-responder group. After 5 years of sirolimus treatment 59% had a positive response, 30% had a partial response and 11% had a negative response. Our study found that sirolimus treatment had a positive long-term effect on most LAM patients

Published
2021

26. Evidence for a link between TNFRSF11A and risk of breast cancer

Author

Bonifaci, Núria, Palafox, Marta, Pellegrini, Pasquale, Osorio, Ana, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Mariette, Frederique, Bernard, Loris, Radice, Paolo, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Sáez, María E., Climent, Fina, Soler, María Teresa, Diez, Orland, Balmaña, Judith, Lasa, Adriana, Ramón y Cajal, Teresa, Miramar, María-Dolores, de la Hoya, Miguel, Pérez-Segura, Pedro, Caldés, Trinidad, Moreno, Víctor, Urruticoechea, Ander, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Pujana, Miguel Angel, and González-Suárez, Eva

Published
2011
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29. Additional file 8 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Abstract

Additional file 8: Co-AP assays involving MRG15 and MRGX. Supplementary Figure 4 containing results of co-AP assays involving MRG15 and MRGX. (PDF 1 MB)

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2020
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30. Additional file 7 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
ComputingMethodologies_PATTERNRECOGNITION, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Hardware_INTEGRATEDCIRCUITS, Hardware_REGISTER-TRANSFER-LEVELIMPLEMENTATION
Abstract

Additional file 7: Co-AP and co-IP assays. Supplementary Figure 3 containing results of the co-AP and co-IP assays. (PDF 3 MB)

Published
2020
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31. Additional file 16 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
Data_FILES
Abstract

Authors’ original file for figure 2

Published
2020
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32. Additional file 5 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
fungi
Abstract

Additional file 5: Gene co-expression. Supplementary Figure 1 containing results of the gene co-expression analysis. (PDF 638 KB)

Published
2020
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33. Additional file 9 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, hemic and lymphatic diseases, nutritional and metabolic diseases
Abstract

Additional file 9: siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. Supplementary Figure 5 containing results of siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. (PDF 1 MB)

Published
2020
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34. Additional file of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
skin and connective tissue diseases
Abstract

Additional file of Exploring the link between MORF4L1 and risk of breast cancer

Published
2020
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35. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R, Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy 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 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.

Published
2020

38. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders

Author

Gratacos, Monica, Nadal, Marga, Martin-Santos, Rocio, Pujana, Miguel Angel, Gago, Jordi, Peral, Belen, Armengol, Lluis, Ponsa, Immaculada, Miro, Rosa, Bulbena, Antoni, and Estiville, Xavier

Subjects
Cell research -- Analysis, Genomes -- Genetic aspects, Human chromosomes -- Genetic aspects, Phobias -- Causes of, Panic disorders -- Causes of, Biological sciences
Abstract

Research has been conducted on the anxiety disorders. The molecular basis of the panic and phobic disorder cooccurrence with joint laxity has been investigated, and the interstitial duplication of the human chromosome associated with the the anxiety disorders in families and panic disorders in nonfamilial cases has been identified.

Published
2001

39. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L., primary, Busch, Evan L., additional, Friebel, Tara M., additional, Cronin, Angel, additional, Leslie, Goska, additional, McGuffog, Lesley, additional, Adlard, Julian, additional, Agata, Simona, additional, Agnarsson, Bjarni A., additional, Ahmed, Munaza, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Andrulis, Irene L., additional, Arason, Adalgeir, additional, Arnold, Norbert, additional, Artioli, Grazia, additional, Arver, Brita, additional, Auber, Bernd, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barkardottir, Rosa B., additional, Barnes, Daniel R., additional, Barroso, Alicia, additional, Barrowdale, Daniel, additional, Belotti, Muriel, additional, Benitez, Javier, additional, Bertelsen, Birgitte, additional, Blok, Marinus J., additional, Bodrogi, Istvan, additional, Bonadona, Valérie, additional, Bonanni, Bernardo, additional, Bondavalli, Davide, additional, Boonen, Susanne E., additional, Borde, Julika, additional, Borg, Ake, additional, Bradbury, Angela R., additional, Brady, Angela, additional, Brewer, Carole, additional, Brunet, Joan, additional, Buecher, Bruno, additional, Buys, Saundra S., additional, Cabezas-Camarero, Santiago, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Campbell, Ian G., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Chan, Tsun L., additional, Chu, Annie T.W., additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Collaborators, GEMO Study, additional, Collaborators, EMBRACE, additional, Cook, Jackie, additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Daly, Mary B., additional, Damante, Giuseppe, additional, Darder, Esther, additional, Davidson, Rosemarie, additional, de la Hoya, Miguel, additional, Puppa, Lara Della, additional, Dennis, Joe, additional, Díez, Orland, additional, Ding, Yuan Chun, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Donaldson, Alan, additional, Dworniczak, Bernd, additional, Easton, Douglas F., additional, Eccles, Diana M., additional, Eeles, Rosalind A., additional, Ehrencrona, Hans, additional, Ejlertsen, Bent, additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Faivre, Laurence, additional, Faust, Ulrike, additional, Feliubadaló, Lídia, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Fountzilas, George, additional, Frost, Debra, additional, García-Barberán, Vanesa, additional, Garre, Pilar, additional, Gauthier-Villars, Marion, additional, Géczi, Lajos, additional, Gehrig, Andrea, additional, Gerdes, Anne-Marie, additional, Gesta, Paul, additional, Giannini, Giuseppe, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, Greene, Mark H., additional, Gutierrez-Barrera, Angelica M., additional, Hahnen, Eric, additional, Hamann, Ute, additional, Hauke, Jan, additional, Herold, Natalie, additional, Hogervorst, Frans B.L., additional, Honisch, Ellen, additional, Hopper, John L., additional, Hulick, Peter J., additional, Investigators, KConFab, additional, Investigators, HEBON, additional, Izatt, Louise, additional, Jager, Agnes, additional, James, Paul, additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, Jensen, Thomas Dyrso, additional, Johannsson, Oskar Th., additional, John, Esther M., additional, Joseph, Vijai, additional, Kang, Eunyoung, additional, Kast, Karin, additional, Kiiski, Johanna I., additional, Kim, Sung-Won, additional, Kim, Zisun, additional, Ko, Kwang-Pil, additional, Konstantopoulou, Irene, additional, Kramer, Gero, additional, Krogh, Lotte, additional, Kruse, Torben A., additional, Kwong, Ava, additional, Larsen, Mirjam, additional, Lasset, Christine, additional, Lautrup, Charlotte, additional, Lazaro, Conxi, additional, Lee, Jihyoun, additional, Lee, Jong Won, additional, Lee, Min Hyuk, additional, Lemke, Johannes, additional, Lesueur, Fabienne, additional, Liljegren, Annelie, additional, Lindblom, Annika, additional, Llovet, Patricia, additional, Lopez-Fernández, Adria, additional, Lopez-Perolio, Irene, additional, Lorca, Victor, additional, Loud, Jennifer T., additional, Ma, Edmond S.K., additional, Mai, Phuong L., additional, Manoukian, Siranoush, additional, Mari, Veronique, additional, Martin, Lynn, additional, Matricardi, Laura, additional, Mebirouk, Noura, additional, Medici, Veronica, additional, Meijers-Heijboer, Hanne E.J., additional, Meindl, Alfons, additional, Mensenkamp, Arjen R., additional, Miller, Clare, additional, Gomes, Denise Molina, additional, Montagna, Marco, additional, Mooij, Thea M., additional, Moserle, Lidia, additional, Mouret-Fourme, Emmanuelle, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Navratilova, Marie, additional, Nevanlinna, Heli, additional, Niederacher, Dieter, additional, Nielsen, Finn C. Cilius, additional, Nikitina-Zake, Liene, additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Ong, Kai-Ren, additional, Osorio, Ana, additional, Ott, Claus-Eric, additional, Palli, Domenico, additional, Park, Sue K., additional, Parsons, Michael T., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Peixoto, Ana, additional, Pérez-Segura, Pedro, additional, Peterlongo, Paolo, additional, Petersen, Annabeth Høgh, additional, Porteous, Mary E., additional, Pujana, Miguel Angel, additional, Radice, Paolo, additional, Ramser, Juliane, additional, Rantala, Johanna, additional, Rashid, Muhammad U., additional, Rhiem, Kerstin, additional, Rizzolo, Piera, additional, Robson, Mark E., additional, Rookus, Matti A., additional, Rossing, Caroline M., additional, Ruddy, Kathryn J., additional, Santos, Catarina, additional, Saule, Claire, additional, Scarpitta, Rosa, additional, Schmutzler, Rita K., additional, Schuster, Hélène, additional, Senter, Leigha, additional, Seynaeve, Caroline M., additional, Shah, Payal D., additional, Sharma, Priyanka, additional, Shin, Vivian Y., additional, Silvestri, Valentina, additional, Simard, Jacques, additional, Singer, Christian F., additional, Skytte, Anne-Bine, additional, Snape, Katie, additional, Solano, Angela R., additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Steele, Linda, additional, Steinemann, Doris, additional, Stoppa-Lyonnet, Dominique, additional, Stradella, Agostina, additional, Sunde, Lone, additional, Sutter, Christian, additional, Tan, Yen Y., additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tommasi, Stefania, additional, Torres, Diana, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tung, Nadine, additional, van Asperen, Christi J., additional, van der Baan, Frederieke H., additional, van der Kolk, Lizet E., additional, van der Luijt, Rob B., additional, van Hest, Liselotte P., additional, Varesco, Liliana, additional, Varon-Mateeva, Raymonda, additional, Viel, Alessandra, additional, Vierstraete, Jeroen, additional, Villa, Roberta, additional, von Wachenfeldt, Anna, additional, Wagner, Philipp, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey N., additional, Wieme, Greet, additional, Yadav, Siddhartha, additional, Yannoukakos, Drakoulis, additional, Yoon, Sook-Yee, additional, Zanzottera, Cristina, additional, Zorn, Kristin K., additional, D'Amico, Anthony V., additional, Freedman, Matthew L., additional, Pomerantz, Mark M., additional, Chenevix-Trench, Georgia, additional, Antoniou, Antonis C., additional, Neuhausen, Susan L., additional, Ottini, Laura, additional, Nielsen, Henriette Roed, additional, and Rebbeck, Timothy R., additional

Published
2020
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45. Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Published
2011
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47. Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance

Author

Ruiz de Garibay, Gorka, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A., Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S., Villanueva, Alberto, Pujana, Miguel Angel, and Universitat de Barcelona

Subjects
Adult, Medical screening, Resistance, lcsh:Medicine, Breast Neoplasms, Càncer de mama, Quimioteràpia del càncer, Genetic Heterogeneity, Mice, Breast cancer, Transcription Factor 4, Patient-derived xenograft, Cell Line, Tumor, lcsh:Pathology, Transcription factors, Chemotherapy, Animals, Humans, Resistència als medicaments, TCF4, Base Sequence, Xenograft, lcsh:R, Cell Cycle, Prognosis, Adaptation, Physiological, Xenograft Model Antitumor Assays, Cribratge, Drug Resistance, Neoplasm, Factors de transcripció, Drug resistance, Mutation, Female, Cancer chemotherapy, Transcription factor, lcsh:RB1-214, Research Article
Abstract

Understanding the mechanisms of cancer therapeutic resistance is fundamental to improving cancer care. There is clear benefit from chemotherapy in different breast cancer settings; however, knowledge of the mutations and genes that mediate resistance is incomplete. In this study, by modeling chemoresistance in patient-derived xenografts (PDXs), we show that adaptation to therapy is genetically complex and identify that loss of transcription factor 4 (TCF4; also known as ITF2) is associated with this process. A triple-negative BRCA1-mutated PDX was used to study the genetics of chemoresistance. The PDX was treated in parallel with four chemotherapies for five iterative cycles. Exome sequencing identified few genes with de novo or enriched mutations in common among the different therapies, whereas many common depleted mutations/genes were observed. Analysis of somatic mutations from The Cancer Genome Atlas (TCGA) supported the prognostic relevance of the identified genes. A mutation in TCF4 was found de novo in all treatments, and analysis of drug sensitivity profiles across cancer cell lines supported the link to chemoresistance. Loss of TCF4 conferred chemoresistance in breast cancer cell models, possibly by altering cell cycle regulation. Targeted sequencing in chemoresistant tumors identified an intronic variant of TCF4 that may represent an expression quantitative trait locus associated with relapse outcome in TCGA. Immunohistochemical studies suggest a common loss of nuclear TCF4 expression post-chemotherapy. Together, these results from tumor xenograft modeling depict a link between altered TCF4 expression and breast cancer chemoresistance., Summary: By modeling chemoresistance in patient-derived breast cancer xenografts, this study shows that adaptation to therapy is genetically complex and that loss of transcription factor 4 (TCF4) is associated with this process.

Published
2018

48. Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Author

Gómez-Miragaya, Jorge, primary, Díaz-Navarro, Ander, additional, Tonda, Raul, additional, Beltran, Sergi, additional, Palomero, Luis, additional, Palafox, Marta, additional, Dobrolecki, Lacey E., additional, Huang, Chen, additional, Vasaikar, Suhas, additional, Zhang, Bing, additional, Wulf, Gerburg M., additional, Collado-Sole, Alejandro, additional, Trinidad, Eva M., additional, Muñoz, Purificación, additional, Paré, Laia, additional, Prat, Aleix, additional, Bruna, Alejandra, additional, Caldas, Carlos, additional, Arribas, Joaquín, additional, Soler-Monso, María Teresa, additional, Petit, Anna, additional, Balmaña, Judith, additional, Cruz, Cristina, additional, Serra, Violeta, additional, Pujana, Miguel Angel, additional, Lewis, Michael T., additional, Puente, Xose S., additional, and González-Suárez, Eva, additional

Published
2019
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50. Correction: Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness

Author

Ruiz de Garibay, Gorka, primary, Herranz, Carmen, additional, Llorente, Alicia, additional, Boni, Jacopo, additional, Serra-Musach, Jordi, additional, Mateo, Francesca, additional, Aguilar, Helena, additional, Gómez-Baldó, Laia, additional, Petit, Anna, additional, Vidal, August, additional, Climent, Fina, additional, Hernández-Losa, Javier, additional, Cordero, Álex, additional, González-Suárez, Eva, additional, Sánchez-Mut, José Vicente, additional, Esteller, Manel, additional, Llatjós, Roger, additional, Varela, Mar, additional, López, José Ignacio, additional, García, Nadia, additional, Extremera, Ana I., additional, Gumà, Anna, additional, Ortega, Raúl, additional, Plà, María Jesús, additional, Fernández, Adela, additional, Pernas, Sònia, additional, Falo, Catalina, additional, Morilla, Idoia, additional, Campos, Miriam, additional, Gil, Miguel, additional, Román, Antonio, additional, Molina-Molina, María, additional, Ussetti, Piedad, additional, Laporta, Rosalía, additional, Valenzuela, Claudia, additional, Ancochea, Julio, additional, Xaubet, Antoni, additional, Casanova, Álvaro, additional, and Pujana, Miguel Angel, additional

Published
2018
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