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98 results on '"Hansen, Thomas V.O."'

1. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

Author: Yin, Xiaoyu, Richardson, Marcy, Laner, Andreas, Shi, Xuemei, Ognedal, Elisabet, Vasta, Valeria, Hansen, Thomas v.O., Pineda, Marta, Ritter, Deborah, de Dunnen, Johan, Hassanin, Emadeldin, Lin, Wencong Lyman, Borras, Ester, Krahn, Karl, Nordling, Margareta, Martins, Alexandra, Mahmood, Khalid, Nadeau, Emily, Beshay, Victoria, Tops, Carli, Genuardi, Maurizio, Pesaran, Tina, Frayling, Ian M., Capellá, Gabriel, Latchford, Andrew, Tavtigian, Sean V., Maj, Carlo, Plon, Sharon E., Greenblatt, Marc S., Macrae, Finlay A., Spier, Isabel, and Aretz, Stefan
Published: 2024
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2. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author: Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.
Published: 2021
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3. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Author: Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J., Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E., Skytte, Anne Bine, Jensen, Uffe Birk, Høffding, Louise K., De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T., Hansen, Thomas V.O., Rossing, Maria, Kruse, Torben A., Spurdle, Amanda B., Thomassen, Mads, Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J., Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E., Skytte, Anne Bine, Jensen, Uffe Birk, Høffding, Louise K., De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T., Hansen, Thomas V.O., Rossing, Maria, Kruse, Torben A., Spurdle, Amanda B., and Thomassen, Mads
Abstract: Background Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods We identified two families with a BRCA1 in-frame exon 20 duplication (Ex20dup). In one male individual, the variant was in trans with the BRCA1 frameshift variant c.2475delC p.(Asp825Glufs*21). We performed splicing analysis and used a transcription activation domain (TAD) assay to assess the functional impact of Ex20dup. We collected pedigrees and mapped the breakpoints of the duplication by long- and short-read genome sequencing. In addition, we performed a mitomycin C (MMC) assay from the dual carrier using cultured lymphoblastoid cells. Results Genome sequencing and RNA analysis revealed the BRCA1 exon 20 duplication to be in tandem. The duplication was expressed without skipping any one of the two exon 20 copies, resulting in a lack of wild-type transcripts from this allele. TAD assay indicated that the Ex20dup variant has a functional level similar to the well-known moderate penetrant pathogenic BRCA1 variant c.5096G > A p.(Arg1699Gln). MMC assay of the dual carrier indicated a slightly impaired chromosomal repair ability. Conclusions This is the first reported case where two BRCA1 variants with demonstrated functional impact are identified in trans in a male patient with an apparently normal clinical phenotype and no BRCA1-associated cancer. The results pinpoint a minimum necessary BRCA1 protein activity to avoid a Fanconi Anemia-like phenotype in compound heterozygous status and yet still predispose carriers to hormone-related cancers. These findings urge caution when counseling families regarding potential Fanconi Anemia risk. Furthermore, prudence should be taken when classifying individual variants as benign based on co-occurrence in trans with well-established pathogenic variants., Background: Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods: We identified two families with a BRCA1 in-frame exon 20 duplication (Ex20dup). In one male individual, the variant was in trans with the BRCA1 frameshift variant c.2475delC p.(Asp825Glufs*21). We performed splicing analysis and used a transcription activation domain (TAD) assay to assess the functional impact of Ex20dup. We collected pedigrees and mapped the breakpoints of the duplication by long- and short-read genome sequencing. In addition, we performed a mitomycin C (MMC) assay from the dual carrier using cultured lymphoblastoid cells. Results: Genome sequencing and RNA analysis revealed the BRCA1 exon 20 duplication to be in tandem. The duplication was expressed without skipping any one of the two exon 20 copies, resulting in a lack of wild-type transcripts from this allele. TAD assay indicated that the Ex20dup variant has a functional level similar to the well-known moderate penetrant pathogenic BRCA1 variant c.5096G > A p.(Arg1699Gln). MMC assay of the dual carrier indicated a slightly impaired chromosomal repair ability. Conclusions: This is the first reported case where two BRCA1 variants with demonstrated functional impact are identified in trans in a male patient with an apparently normal clinical phenotype and no BRCA1-associated cancer. The results pinpoint a minimum necessary BRCA1 protein activity to avoid a Fanconi Anemia-like phenotype in compound heterozygous status and yet still predispose carriers to hormone-related cancers. These findings urge caution when counseling families regarding potential Fanconi Anemia risk. Furthermore, prudence should be taken when classifying individual variants as benign based on co-occurrence in trans with well-established pathogenic variants.
Published: 2024

4. Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary
Published: 2023
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5. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
Published: 2023
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6. Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Peterlongo, Paolo, primary, Chang-Claude, Jenny, primary, Moysich, Kirsten B., primary, Rudolph, Anja, primary, Schmutzler, Rita K., primary, Simard, Jacques, primary, Soucy, Penny, primary, Eeles, Rosalind A., primary, Easton, Douglas F., primary, Hamann, Ute, primary, Wilkening, Stefan, primary, Chen, Bowang, primary, Rookus, Matti A., primary, Schmidt, Marjanka K., primary, van der Baan, Frederieke H., primary, Spurdle, Amanda B., primary, Walker, Logan C., primary, Lose, Felicity, primary, Maia, Ana-Teresa, primary, Montagna, Marco, primary, Matricardi, Laura, primary, Lubinski, Jan, primary, Jakubowska, Anna, primary, Gómez Garcia, Encarna B., primary, Olopade, Olufunmilayo I., primary, Nussbaum, Robert L., primary, Nathanson, Katherine L., primary, Domchek, Susan M., primary, Rebbeck, Timothy R., primary, Arun, Banu K., primary, Karlan, Beth Y., primary, Orsulic, Sandra, primary, Lester, Jenny, primary, Chung, Wendy K., primary, Miron, Alex, primary, Southey, Melissa C., primary, Goldgar, David E., primary, Buys, Saundra S., primary, Janavicius, Ramunas, primary, Dorfling, Cecilia M., primary, van Rensburg, Elizabeth J., primary, Ding, Yuan Chun, primary, Neuhausen, Susan L., primary, Hansen, Thomas V.O., primary, Gerdes, Anne-Marie, primary, Ejlertsen, Bent, primary, Jønson, Lars, primary, Osorio, Ana, primary, Martínez-Bouzas, Cristina, primary, Benitez, Javier, primary, Conway, Edye E., primary, Blazer, Kathleen R., primary, Weitzel, Jeffrey N., primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Scuvera, Giulietta, primary, Barile, Monica, primary, Ficarazzi, Filomena, primary, Mariette, Frederique, primary, Fortuzzi, Stefano, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Papi, Laura, primary, Martayan, Aline, primary, Tibiletti, Maria Grazia, primary, Radice, Paolo, primary, Vratimos, Athanassios, primary, Fostira, Florentia, primary, Garber, Judy E., primary, Donaldson, Alan, primary, Brewer, Carole, primary, Foo, Claire, primary, Evans, D. Gareth R., primary, Frost, Debra, primary, Eccles, Diana, primary, Brady, Angela, primary, Cook, Jackie, primary, Tischkowitz, Marc, primary, Adlard, Julian, primary, Barwell, Julian, primary, Walker, Lisa, primary, Izatt, Louise, primary, Side, Lucy E., primary, Kennedy, M. John, primary, Rogers, Mark T., primary, Porteous, Mary E., primary, Morrison, Patrick J., primary, Platte, Radka, primary, Davidson, Rosemarie, primary, Hodgson, Shirley V., primary, Ellis, Steve, primary, Cole, Trevor, primary, Godwin, Andrew K., primary, Claes, Kathleen, primary, Van Maerken, Tom, primary, Meindl, Alfons, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Engel, Christoph, primary, Niederacher, Dieter, primary, Steinemann, Doris, primary, Plendl, Hansjoerg, primary, Kast, Karin, primary, Rhiem, Kerstin, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Varon-Mateeva, Raymonda, primary, Wappenschmidt, Barbara, primary, Wang-Gohrke, Shan, primary, Bressac-de Paillerets, Brigitte, primary, Buecher, Bruno, primary, Delnatte, Capucine, primary, Houdayer, Claude, primary, Stoppa-Lyonnet, Dominique, primary, Damiola, Francesca, primary, Coupier, Isabelle, primary, Barjhoux, Laure, primary, Venat-Bouvet, Laurence, primary, Golmard, Lisa, primary, Boutry-Kryza, Nadia, primary, Sinilnikova, Olga M., primary, Caron, Olivier, primary, Pujol, Pascal, primary, Mazoyer, Sylvie, primary, Belotti, Muriel, primary, Piedmonte, Marion, primary, Friedlander, Michael L., primary, Rodriguez, Gustavo C., primary, Copeland, Larry J., primary, de la Hoya, Miguel, primary, Segura, Pedro Perez, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, van Os, Theo A.M., primary, Meijers-Heijboer, Hanne E.J., primary, van der Hout, Annemarie H., primary, Vreeswijk, Maaike P.G., primary, Hoogerbrugge, Nicoline, primary, Ausems, Margreet G.E.M., primary, van Doorn, Helena C., primary, Collée, J. Margriet, primary, Olah, Edith, primary, Diez, Orland, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Feliubadalo, Lidia, primary, Cybulski, Cezary, primary, Gronwald, Jacek, primary, Durda, Katarzyna, primary, Jaworska-Bieniek, Katarzyna, primary, Sukiennicki, Grzegorz, primary, Arason, Adalgeir, primary, Chiquette, Jocelyne, primary, Teixeira, Manuel R., primary, Olswold, Curtis, primary, Couch, Fergus J., primary, Lindor, Noralane M., primary, Wang, Xianshu, primary, Szabo, Csilla I., primary, Offit, Kenneth, primary, Corines, Marina, primary, Jacobs, Lauren, primary, Robson, Mark E., primary, Zhang, Liying, primary, Joseph, Vijai, primary, Berger, Andreas, primary, Singer, Christian F., primary, Rappaport, Christine, primary, Kaulich, Daphne Geschwantler, primary, Pfeiler, Georg, primary, Tea, Muy-Kheng M., primary, Phelan, Catherine M., primary, Greene, Mark H., primary, Mai, Phuong L., primary, Rennert, Gad, primary, Mulligan, Anna Marie, primary, Glendon, Gord, primary, Tchatchou, Sandrine, primary, Andrulis, Irene L., primary, Toland, Amanda Ewart, primary, Bojesen, Anders, primary, Pedersen, Inge Sokilde, primary, Thomassen, Mads, primary, Jensen, Uffe Birk, primary, Laitman, Yael, primary, Rantala, Johanna, primary, von Wachenfeldt, Anna, primary, Ehrencrona, Hans, primary, Askmalm, Marie Stenmark, primary, Borg, Åke, primary, Kuchenbaecker, Karoline B., primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Healey, Sue, primary, Lee, Andrew, primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Antoniou, Antonis C., primary, and Friedman, Eitan, primary
Published: 2023
Full Text: View/download PDF

7. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
Published: 2023
Full Text: View/download PDF

8. Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author: Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary
Published: 2023
Full Text: View/download PDF

9. Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author: Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary
Published: 2023
Full Text: View/download PDF

10. Differences in global DNA methylation of testicular seminoma are not associated with changes in histone modifications, clinical prognosis, BRAF mutations or gene expression

Author: Pedersen, Louise Holm, Nielsen, John E., Daugaard, Gedske, Hansen, Thomas v.O., Rajpert-De Meyts, Ewa, and Almstrup, Kristian
Published: 2016
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11. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, Antoinette, van der Baan, Frederieke H., Berchuck, Andrew, Johnatty, Sharon E., Aben, Katja K., Agnarsson, Bjarni A., Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Antoniou, Antonis C., Apicella, Carmel, Arndt, Volker, Arnold, Norbert, Arun, Banu K., Arver, Brita, Ashworth, Alan, Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Barrowdale, Daniel, Bean, Yukie T., Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier, Berger, Andreas, Berger, Raanan, Beuselinck, Benoit, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brand, Judith S., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Budzilowska, Agnieszka, Bunker, Clareann H., Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Cybulski, Cezary, Czene, Kamila, Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, de la Hoya, Miguel, deFazio, Anna, Dennis, Joseph, Devilee, Peter, Dicks, Ed M., Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Silva, Isabel Dos Santos, du Bois, Andreas, Dumont, Martine, Dunning, Alison M., Duran, Mercedes, Easton, Douglas F., Eccles, Diana, Edwards, Robert P., Ehrencrona, Hans, Ejlertsen, Bent, Ekici, Arif B., Ellis, Steve D., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Fontaine, Annette, Fortuzzi, Stefano, Fostira, Florentia, Fridley, Brooke L., Friebel, Tara, Friedman, Eitan, Friel, Grace, Frost, Debra, Garber, Judy, García-Closas, Montserrat, Gayther, Simon A., Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Gore, Martin, Greene, Mark H., Grip, Mervi, Gronwald, Jacek, Gschwantler Kaulich, Daphne, Guénel, Pascal, Guzman, Starr R., Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Halverson, Sandra L., Hamann, Ute, Hansen, Thomas V.O., Harter, Philipp, Hartikainen, Jaana M., Healey, Sue, Hein, Alexander, Heitz, Florian, Henderson, Brian E., Herzog, Josef, T Hildebrandt, Michelle A., Høgdall, Claus K., Høgdall, Estrid, Hogervorst, Frans B.L., Hopper, John L., Humphreys, Keith, Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska, Katarzyna, Jensen, Allan, Jensen, Uffe Birk, Johnson, Nichola, Jukkola-Vuorinen, Arja, Kabisch, Maria, Karlan, Beth Y., Kataja, Vesa, Kauff, Noah, Kelemen, Linda E., Kerin, Michael J., Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Knol-Bout, Jacoba P., Konstantopoulou, Irene, Kosma, Veli-Matti, Krakstad, Camilla, Kristensen, Vessela, Kuchenbaecker, Karoline B., Kupryjanczyk, Jolanta, Laitman, Yael, Lambrechts, Diether, Lambrechts, Sandrina, Larson, Melissa C., Lasa, Adriana, Laurent-Puig, Pierre, Lazaro, Conxi, Le, Nhu D., Le Marchand, Loic, Leminen, Arto, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Liang, Dong, Lindblom, Annika, Lindor, Noralane, Lissowska, Jolanta, Long, Jirong, Lu, Karen H., Lubinski, Jan, Lundvall, Lene, Lurie, Galina, Mai, Phuong L., Mannermaa, Arto, Margolin, Sara, Mariette, Frederique, Marme, Frederik, Martens, John W.M., Massuger, Leon F.A.G., Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McGuire, Valerie, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menegaux, Florence, Menéndez, Primitiva, Menkiszak, Janusz, Menon, Usha, Mensenkamp, Arjen R., Miller, Nicola, Milne, Roger L., Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Müller, Heiko, Mulligan, Anna Marie, Muranen, Taru A., Narod, Steven A., Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Finn C., Nielsen, Sune F., Nordestgaard, Børge G., Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Oosterwijk, Jan C., Orlow, Irene, Orr, Nick, Orsulic, Sandra, Osorio, Ana, Ottini, Laura, Paul, James, Pearce, Celeste L., Pedersen, Inge Sokilde, Peissel, Bernard, Pejovic, Tanja, Pelttari, Liisa M., Perkins, Jo, Permuth-Wey, Jenny, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M., Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C., Platte, Radka, Plisiecka-Halasa, Joanna, Poole, Elizabeth M., Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rebbeck, Timothy R., Reed, Malcolm W.R., Rennert, Gad, Risch, Harvey A., Robson, Mark, Rodriguez, Gustavo C., Romero, Atocha, Rossing, Mary Anne, Rothstein, Joseph H., Rudolph, Anja, Runnebaum, Ingo, Salani, Ritu, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schrauder, Michael G., Schumacher, Fredrick, Schwaab, Ira, Scuvera, Giulietta, Sellers, Thomas A., Severi, Gianluca, Seynaeve, Caroline M., Shah, Mitul, Shrubsole, Martha, Siddiqui, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Smeets, Dominiek, Sohn, Christof, Soller, Maria, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stegmaier, Christa, Stoppa-Lyonnet, Dominique, Sucheston, Lara, Swerdlow, Anthony, Tangen, Ingvild L., Tea, Muy-Kheng, Teixeira, Manuel R., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Tollenaar, Rob A.E.M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tsimiklis, Helen, Tung, Nadine, Tworoger, Shelley S., Tyrer, Jonathan P., Vachon, Celine M., Van 't Veer, Laura J., van Altena, Anne M., Van Asperen, C.J., van den Berg, David, van den Ouweland, Ans M.W., van Doorn, Helena C., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vergote, Ignace, Verhoef, Senno, Vierkant, Robert A., Vijai, Joseph, Vitonis, Allison F., von Wachenfeldt, Anna, Walsh, Christine, Wang, Qin, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weischer, Maren, Weitzel, Jeffrey N., Weltens, Caroline, Wentzensen, Nicolas, Whittemore, Alice S., Wilkens, Lynne R., Winqvist, Robert, Wu, Anna H., Wu, Xifeng, Yang, Hannah P., Zaffaroni, Daniela, Pilar Zamora, M., Zheng, Wei, Ziogas, Argyrios, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Rookus, Matti A., Hooning, Maartje J., and Goode, Ellen L.
Published: 2016
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12. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Author: Li, Hongyan, primary, Engel, Christoph, additional, Hoya, Miguel de la, additional, Peterlongo, Paolo, additional, Yannoukakos, Drakoulis, additional, Livraghi, Luca, additional, Radice, Paolo, additional, Thomassen, Mads, additional, Hansen, Thomas V.O., additional, Gerdes, Anne-Marie, additional, Nielsen, Henriette R., additional, Caputo, Sandrine M., additional, Zambelli, Alberto, additional, Borg, Ake, additional, Solano, Angela, additional, Thomas, Abigail, additional, Parsons, Michael T., additional, Antoniou, Antonis C., additional, Leslie, Goska, additional, Yang, Xin, additional, Chenevix-Trench, Georgia, additional, Caldes, Trinidad, additional, Kwong, Ava, additional, Pedersen, Inge Søkilde, additional, Lautrup, Charlotte K., additional, John, Esther M., additional, Terry, Mary Beth, additional, Hopper, John L., additional, Southey, Melissa C., additional, Andrulis, Irene L., additional, Tischkowitz, Marc, additional, Janavicius, Ramunas, additional, Boonen, Susanne E., additional, Kroeldrup, Lone, additional, Varesco, Liliana, additional, Hamann, Ute, additional, Vega, Ana, additional, Palmero, Edenir I., additional, Garber, Judy, additional, Montagna, Marco, additional, Van Asperen, Christi J., additional, Foretova, Lenka, additional, Greene, Mark H., additional, Selkirk, Tina, additional, Moller, Pal, additional, Toland, Amanda E., additional, Domchek, Susan M., additional, James, Paul A., additional, Thorne, Heather, additional, Eccles, Diana M., additional, Nielsen, Sarah M., additional, Manoukian, Siranoush, additional, Pasini, Barbara, additional, Caligo, Maria A., additional, Lazaro, Conxi, additional, Kirk, Judy, additional, Wappenschmidt, Barbara, additional, Spurdle, Amanda B., additional, Couch, Fergus J., additional, Schmutzler, Rita, additional, and Goldgar, David E., additional
Published: 2022
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13. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Author: 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, Hansen, Thomas V.O., Høgdall, Estrid, Høgdall, Claus K., Jensen, Allan, Kjaer, Susanne K., Nielsen, Finn C., 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, Hansen, Thomas V.O., Høgdall, Estrid, Høgdall, Claus K., Jensen, Allan, Kjaer, Susanne K., and Nielsen, Finn C.
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

14. Classification of msh6 variants of uncertain significance using functional assays

Author: Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, Hansen, Thomas V.O., Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, and Hansen, Thomas V.O.
Abstract: Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syn-dromes worldwide. Individuals with LS have a high risk of developing colorectal or endometrial cancer, as well as several other cancers. LS is caused by autosomal dominant pathogenic variants in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, PMS2 or MSH6, and typically include truncating variants, such as frameshift, nonsense or splicing variants. However, a significant number of missense, intronic, or silent variants, or small in-frame insertions/deletions, are detected during genetic screening of the MMR genes. The clinical effects of these variants are often more difficult to predict, and a large fraction of these variants are classified as variants of uncertain significance (VUS). It is pivotal for the clinical management of LS patients to have a clear genetic diagnosis, since patients benefit widely from screening, preventive and personal therapeutic measures. Moreover, in families where a pathogenic variant is identified, testing can be offered to family members, where non-carriers can be spared frequent surveillance, while carriers can be included in cancer surveillance programs. It is therefore important to reclassify VUSs, and, in this regard, functional assays can provide insight into the effect of a variant on the protein or mRNA level. Here, we briefly describe the disorders that are related to MMR deficiency, as well as the structure and function of MSH6. Moreover, we review the functional assays that are used to examine VUS identified in MSH6 and discuss the results obtained in relation to the ACMG/AMP PS3/BS3 criterion. We also provide a compiled list of the MSH6 variants examined by these assays. Finally, we provide a future perspective on high-throughput functional analyses with specific emphasis on the MMR genes.
Published: 2021

15. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

Author: Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., and Vreeswijk, Maaike P.G.
Published: 2014
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16. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

Author: Byrjalsen, Anna, Hansen, Thomas V.O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne-Marie, Schmiegelow, Kjeld, Wadt, Karin, Byrjalsen, Anna, Hansen, Thomas V.O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne-Marie, Schmiegelow, Kjeld, and Wadt, Karin
Abstract: Historically, cancer predisposition syndromes (CPSs) were rarely established for children with cancer. This nationwide, population-based study investigated how frequently children with cancer had or were likely to have a CPS. Children (0-17 years) in Denmark with newly diagnosed cancer were invited to participate in whole-genome sequencing of germline DNA. Suspicion of CPS was assessed according to Jongmans'/McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) criteria and familial cancer diagnoses were verified using population-based registries. 198 of 235 (84.3%) eligible patients participated, of whom 94/198 (47.5%) carried pathogenic variants (PVs) in a CPS gene or had clinical features indicating CPS. Twenty-nine of 198 (14.6%) patients harbored a CPS, of whom 21/198 (10.6%) harbored a childhood-onset and 9/198 (4.5%) an adult-onset CPS. In addition, 23/198 (11.6%) patients carried a PV associated with biallelic CPS. Seven of the 54 (12.9%) patients carried two or more variants in different CPS genes. Seventy of 198 (35.4%) patients fulfilled the Jongmans' and/or MIPOGG criteria indicating an underlying CPS, including two of the 9 (22.2%) patients with an adult-onset CPS versus 18 of the 21 (85.7%) patients with a childhood-onset CPS (p = 0.0022), eight of the additional 23 (34.8%) patients with a heterozygous PV associated with biallelic CPS, and 42 patients without PVs. Children with a central nervous system (CNS) tumor had family members with CNS tumors more frequently than patients with other cancers (11/44, p = 0.04), but 42 of 44 (95.5%) cases did not have a PV in a CPS gene. These results demonstrate the value of systematically screening pediatric cancer patients for CPSs and indicate that a higher proportion of childhood cancers may be linked to predisposing germline variants than previously supposed.
Published: 2020

17. Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

Author: Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, DIeter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S., Laduca, Holly, Ramus, Susan J., Menon, Usha, Rosenthal, Adam N., Jacobs, Ian, Gayther, Simon A., DIcks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M., Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V.O., Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D., Traficante, Nadia, DIez, Orland, Balmaña, Judith, Gruber, Stephen B., Chenevix-Trench, Georgia, Investigators, Kconfab, Jensen, Allan, Kjær, Susanne K., Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J., Robson, Mark, Gronwald, Jacek, Domchek, Susan M., Culver, Julie O., De La Hoya, Miguel, Easton, Douglas F., Foulkes, William D., Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K., Pharoah, Paul D.P., Antoniou, Antonis C., Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, DIeter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S., Laduca, Holly, Ramus, Susan J., Menon, Usha, Rosenthal, Adam N., Jacobs, Ian, Gayther, Simon A., DIcks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M., Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V.O., Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D., Traficante, Nadia, DIez, Orland, Balmaña, Judith, Gruber, Stephen B., Chenevix-Trench, Georgia, Investigators, Kconfab, Jensen, Allan, Kjær, Susanne K., Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J., Robson, Mark, Gronwald, Jacek, Domchek, Susan M., Culver, Julie O., De La Hoya, Miguel, Easton, Douglas F., Foulkes, William D., Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K., Pharoah, Paul D.P., and Antoniou, Antonis C.
Abstract: Background: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. Methods: We analyzed data from 6178 families, 125 with pathogenic variants in RAD51C, and 6690 families, 60 with pathogenic variants in RAD51D. TOC and BC relative and cumulative risks were estimated using complex segregation analysis to model the cancer inheritance patterns in families while adjusting for the mode of ascertainment of each family. All statistical tests were two-sided. Results: Pathogenic variants in both RAD51C and RAD51D were associated with TOC (RAD51C: relative risk [RR] = 7.55, 95% confidence interval [CI] = 5.60 to 10.19; P = 5 × 10-40; RAD51D: RR = 7.60, 95% CI = 5.61 to 10.30; P = 5 × 10-39) and BC (RAD51C: RR = 1.99, 95% CI = 1.39 to 2.85; P = 1.55 × 10-4; RAD51D: RR = 1.83, 95% CI = 1.24 to 2.72; P =. 002). For both RAD51C and RAD51D, there was a suggestion that the TOC relative risks increased with age until around age 60 years and decreased thereafter. The estimated cumulative risks of developing TOC to age 80 years were 11% (95% CI = 6% to 21%) for RAD51C and 13% (95% CI = 7% to 23%) for RAD51D pathogenic variant carriers. The estimated cumulative risks of developing BC to 80 years were 21% (95% CI = 15% to 29%) for RAD51C and 20% (95% CI = 14% to 28%) for RAD51D pathogenic variant carriers. Both TOC and BC risks for RAD51C and RAD51D pathogenic variant carriers varied by cancer family history and could be as high as 32-36% for TOC, for carriers with two first-degree relatives diagnosed with TOC, or 44-46% for BC, for carriers with two first-degree relatives diagnosed with BC. Conclusions: These estimates will facilitate the genetic counseling of RAD51C and RAD51D pathogenic variant carriers and justify the incorporation of RAD51C and RAD51D into cancer risk prediction models.
Published: 2020

18. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Author: Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas V.O., Gerdes, Anne Marie, Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas V.O., and Gerdes, Anne Marie
Abstract: Background: We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing analysis reveal that the variant results in skipping of the last 70 nucleotides of the exon, which leads to the introduction of a frameshift and a premature stop codon. Case presentation: The variant was detected in two, apparently unrelated, Danish families with an accumulation of colorectal cancers, colonic adenomas and other cancers. The families both have an attenuated familial adenomatous polyposis phenotype, which is consistent with the association of pathogenic variants in the 5′ end of the gene. One variant-carrier also had Caroli Disease and a Caroli Disease associated hepatic mucinous cystadenocarcinoma. This is the first description of a person with both Caroli Disease and a pathogenic APC variant, and although the APC variant is not known to be connected to the development of the hepatic malformations in Caroli Disease, it remains unclear whether the variant could have contributed to the carcinogenesis of the liver tumour. Conclusions: Based on functional and co-segregation data we classify the APC c.289G>A, p.(Gly97Arg) variant as pathogenic (class 5). Our findings emphasize the importance of a functional evaluation of missense variants although located far from the exon-intron boundaries.
Published: 2020

19. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Author: Cox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Åke, Karlsson, Per, Stenmark Askmalm, Marie, Barbany Bustinza, Gisela, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benítez, Javier, Hamann, Ute, Rookus, Matti A., van den Ouweland, Ans M.W., Ausems, Margreet G.E.M., Aalfs, Cora M., van Asperen, Christi J., Devilee, Peter, Gille, Hans J.J.P., Peock, Susan, Frost, Debra, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K., Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Giraud, Sophie, Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay, Eisinger, François, Bressac de Paillerets, Brigitte, Caron, Olivier, Delnatte, Capucine, Goldgar, David, Miron, Alex, Ozcelik, Hilmi, Buys, Saundra, Southey, Melissa C., Terry, Mary Beth, Singer, Christian F., Dressler, Anne-Catharina, Tea, Muy-Kheng, Hansen, Thomas V.O., Johannsson, Oskar, Piedmonte, Marion, Rodriguez, Gustavo C., Basil, Jack B., Blank, Stephanie, Toland, Amanda E., Montagna, Marco, Isaacs, Claudine, Blanco, Ignacio, Gayther, Simon A., Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel, Nevanlinna, Heli, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Radice, Paolo, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, and Sinilnikova, Olga M.
Published: 2011
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20. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Laura Putignano, Anna, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Birk Jensen, Uffe, Crüger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., Rookus, Matti A., Hooning, Maartje J., Nelen, Marcel R., van der Luijt, Rob B., van Os, Theo A.M., van Asperen, Christi J., Devilee, Peter, Meijers-Heijboer, Hanne E.J., Gómez Garcia, Encarna B., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Gareth Evans, D., Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, John Kennedy, M., Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F., Tea, Muy-Kheng, Pfeiler, Georg, Catharina Dressler, Anne, Hansen, Thomas v.O., Jønson, Lars, Ejlertsen, Bent, Bjork Barkardottir, Rosa, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D.P., Sucheston, Lara, Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Bozsik, Aniko, Teo, Soo-Hwang, Seldon, Joyce L., Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Chun Ding, Yuan, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S., Couch, Fergus, Simard, Jacques, Easton, Douglas F., and Chenevix-Trench, Georgia
Published: 2011
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21. Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

Author: Hansen, Thomas v.O., Jønson, Lars, Albrechtsen, Anders, Steffensen, Ane Y., Bergsten, Eva, Myrhøj, Torben, Ejlertsen, Bent, and Nielsen, Finn C.
Published: 2010
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22. Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

Author: Okkels, Henrik, primary, Lagerstedt-Robinsson, Kristina, additional, Wikman, Friedrik P., additional, Hansen, Thomas v.O., additional, Lolas, Ihab, additional, Lindberg, Lars Joachim, additional, and Krarup, Henrik B., additional
Published: 2019
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23. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author: Parsons, Michael T., primary, Tudini, Emma, additional, Li, Hongyan, additional, Hahnen, Eric, additional, Wappenschmidt, Barbara, additional, Feliubadaló, Lidia, additional, Aalfs, Cora M., additional, Agata, Simona, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Alonso‐Cerezo, María Concepción, additional, Arnold, Norbert, additional, Auber, Bernd, additional, Austin, Rachel, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barbieri, Elena, additional, Bartram, Claus R., additional, Blanco, Ana, additional, Blümcke, Britta, additional, Bonache, Sandra, additional, Bonanni, Bernardo, additional, Borg, Åke, additional, Bortesi, Beatrice, additional, Brunet, Joan, additional, Bruzzone, Carla, additional, Bucksch, Karolin, additional, Cagnoli, Giulia, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Capone, Gabriele L., additional, Caputo, Sandrine M., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Caux‐Moncoutier, Virginie, additional, Cavalli, Pietro, additional, Cini, Giulia, additional, Clarke, Edward M., additional, Concolino, Paola, additional, Cops, Elisa J., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Darder, Esther, additional, Hoya, Miguel, additional, Dean, Michael, additional, Debatin, Irmgard, additional, Del Valle, Jesús, additional, Delnatte, Capucine, additional, Derive, Nicolas, additional, Diez, Orland, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Dutrannoy, Véronique, additional, Eccles, Diana M., additional, Ehrencrona, Hans, additional, Enders, Ute, additional, Evans, D. Gareth, additional, Farra, Chantal, additional, Faust, Ulrike, additional, Felbor, Ute, additional, Feroce, Irene, additional, Fine, Miriam, additional, Foulkes, William D., additional, Galvao, Henrique C.R., additional, Gambino, Gaetana, additional, Gehrig, Andrea, additional, Gensini, Francesca, additional, Gerdes, Anne‐Marie, additional, Germani, Aldo, additional, Giesecke, Jutta, additional, Gismondi, Viviana, additional, Gómez, Carolina, additional, Garcia, Encarna B., additional, González, Sara, additional, Grau, Elia, additional, Grill, Sabine, additional, Gross, Eva, additional, Guerrieri‐Gonzaga, Aliana, additional, Guillaud‐Bataille, Marine, additional, Gutiérrez‐Enríquez, Sara, additional, Haaf, Thomas, additional, Hackmann, Karl, additional, Hansen, Thomas V.O., additional, Harris, Marion, additional, Hauke, Jan, additional, Heinrich, Tilman, additional, Hellebrand, Heide, additional, Herold, Karen N., additional, Honisch, Ellen, additional, Horvath, Judit, additional, Houdayer, Claude, additional, Hübbel, Verena, additional, Iglesias, Silvia, additional, Izquierdo, Angel, additional, James, Paul A., additional, Janssen, Linda A.M., additional, Jeschke, Udo, additional, Kaulfuß, Silke, additional, Keupp, Katharina, additional, Kiechle, Marion, additional, Kölbl, Alexandra, additional, Krieger, Sophie, additional, Kruse, Torben A., additional, Kvist, Anders, additional, Lalloo, Fiona, additional, Larsen, Mirjam, additional, Lattimore, Vanessa L., additional, Lautrup, Charlotte, additional, Ledig, Susanne, additional, Leinert, Elena, additional, Lewis, Alexandra L., additional, Lim, Joanna, additional, Loeffler, Markus, additional, López‐Fernández, Adrià, additional, Lucci‐Cordisco, Emanuela, additional, Maass, Nicolai, additional, Manoukian, Siranoush, additional, Marabelli, Monica, additional, Matricardi, Laura, additional, Meindl, Alfons, additional, Michelli, Rodrigo D., additional, Moghadasi, Setareh, additional, Moles‐Fernández, Alejandro, additional, Montagna, Marco, additional, Montalban, Gemma, additional, Monteiro, Alvaro N., additional, Montes, Eva, additional, Mori, Luigi, additional, Moserle, Lidia, additional, Müller, Clemens R., additional, Mundhenke, Christoph, additional, Naldi, Nadia, additional, Nathanson, Katherine L., additional, Navarro, Matilde, additional, Nevanlinna, Heli, additional, Nichols, Cassandra B., additional, Niederacher, Dieter, additional, Nielsen, Henriette R., additional, Ong, Kai‐ren, additional, Pachter, Nicholas, additional, Palmero, Edenir I., additional, Papi, Laura, additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Perez‐Segura, Pedro, additional, Pfeifer, Katharina, additional, Pineda, Marta, additional, Pohl‐Rescigno, Esther, additional, Poplawski, Nicola K., additional, Porfirio, Berardino, additional, Quante, Anne S., additional, Ramser, Juliane, additional, Reis, Rui M., additional, Revillion, Françoise, additional, Rhiem, Kerstin, additional, Riboli, Barbara, additional, Ritter, Julia, additional, Rivera, Daniela, additional, Rofes, Paula, additional, Rump, Andreas, additional, Salinas, Monica, additional, Sánchez de Abajo, Ana María, additional, Schmidt, Gunnar, additional, Schoenwiese, Ulrike, additional, Seggewiß, Jochen, additional, Solanes, Ares, additional, Steinemann, Doris, additional, Stiller, Mathias, additional, Stoppa‐Lyonnet, Dominique, additional, Sullivan, Kelly J., additional, Susman, Rachel, additional, Sutter, Christian, additional, Tavtigian, Sean V., additional, Teo, Soo H., additional, Teulé, Alex, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tornero, Eva, additional, Törngren, Therese, additional, Torres‐Esquius, Sara, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tucker, Katherine M., additional, Asperen, Christi J., additional, Mackelenbergh, Marion T., additional, Varesco, Liliana, additional, Vargas‐Parra, Gardenia, additional, Varon, Raymonda, additional, Vega, Ana, additional, Velasco, Ángela, additional, Vesper, Anne‐Sophie, additional, Viel, Alessandra, additional, Vreeswijk, Maaike P. G., additional, Wagner, Sebastian A., additional, Waha, Anke, additional, Walker, Logan C., additional, Walters, Rhiannon J., additional, Wang‐Gohrke, Shan, additional, Weber, Bernhard H. F., additional, Weichert, Wilko, additional, Wieland, Kerstin, additional, Wiesmüller, Lisa, additional, Witzel, Isabell, additional, Wöckel, Achim, additional, Woodward, Emma R., additional, Zachariae, Silke, additional, Zampiga, Valentina, additional, Zeder‐Göß, Christine, additional, Investigators, KConFab, additional, Lázaro, Conxi, additional, Nicolo, Arcangela, additional, Radice, Paolo, additional, Engel, Christoph, additional, Schmutzler, Rita K., additional, Goldgar, David E., additional, and Spurdle, Amanda B., additional
Published: 2019
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24. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1and BRCA2compared with those harboring protein truncating variants

Author: Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, and Goldgar, David E.
Abstract: Germline genetic testing for BRCA1and BRCA2variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants.
Published: 2022
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25. Molecular subtyping of breast cancer improves identification of both high and low risk patients

Author: Rossing, Maria, Østrup, Olga, Majewski, Wiktor W., Kinalis, Savvas, Jensen, Maj Britt, Knoop, Ann, Kroman, Niels, Talman, Maj Lis, Hansen, Thomas V.O., Ejlertsen, Bent, Nielsen, Finn C., Rossing, Maria, Østrup, Olga, Majewski, Wiktor W., Kinalis, Savvas, Jensen, Maj Britt, Knoop, Ann, Kroman, Niels, Talman, Maj Lis, Hansen, Thomas V.O., Ejlertsen, Bent, and Nielsen, Finn C.
Abstract: Background: Transcriptome analysis enables classification of breast tumors into molecular subtypes that correlate with prognosis and effect of therapy. We evaluated the clinical benefits of molecular subtyping compared to our current diagnostic practice. Materials and methods: Molecular subtyping was performed on a consecutive and unselected series of 524 tumors from women with primary breast cancer (n = 508). Tumors were classified by the 256 gene expression signature (CIT) and compared to conventional immunohistochemistry (IHC) procedures. Results: More than 99% of tumors were eligible for molecular classification and final reports were available prior to the multidisciplinary conference. Using a prognostic standard mortality rate index (PSMRi) developed by the Danish Breast Cancer Group (DBCG) 39 patients were assigned with an intermediate risk and among these 16 (41%) were furthermore diagnosed by the multi-gene signature assigned with a luminal A tumor and consequently spared adjuvant chemotherapy. There was overall agreement between mRNA derived and IHC hormone receptor status, whereas IHC Ki67 protein proliferative index proved inaccurate, compared to the mRNA derived index. Forty-one patients with basal-like (basL) subtypes were screened for predisposing mutations regardless of clinical predisposition. Of those 17% carried pathogenic mutations. Conclusion: Transcriptome based subtyping of breast tumors evidently reduces the need for adjuvant chemotherapy and improves identification of women with predisposing mutations. The results imply that transcriptome profiling should become an integrated part of current breast cancer management.
Published: 2018

26. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Author: Nielsen, Sarah M., primary, Eccles, Diana M., additional, Romero, Iris L., additional, Al-Mulla, Fahd, additional, Balmaña, Judith, additional, Biancolella, Michela, additional, Blok, Rien, additional, Caligo, Maria Adelaide, additional, Calvello, Mariarosaria, additional, Capone, Gabriele Lorenzo, additional, Cavalli, Pietro, additional, Chan, T.L. Chris, additional, Claes, Kathleen B.M., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, de la Hoya, Miguel, additional, De Toffol, Simona, additional, Diez, Orland, additional, Domchek, Susan M., additional, Eeles, Ros, additional, Efremidis, Anna, additional, Fostira, Florentia, additional, Goldgar, David, additional, Hadjisavvas, Andreas, additional, Hansen, Thomas v.O., additional, Hirasawa, Akira, additional, Houdayer, Claude, additional, Kleiblova, Petra, additional, Krieger, Sophie, additional, Lázaro, Conxi, additional, Loizidou, Maria, additional, Manoukian, Siranoush, additional, Mensenkamp, Arjen R., additional, Moghadasi, Setareh, additional, Monteiro, Alvaro N., additional, Mori, Luigi, additional, Morrow, April, additional, Naldi, Nadia, additional, Nielsen, Henriette R., additional, Olopade, Olufunmilayo I., additional, Pachter, Nicholas S., additional, Palmero, Edenir I., additional, Pedersen, Inge S., additional, Piane, Maria, additional, Puzzo, Marianna, additional, Robson, Mark, additional, Rossing, Maria, additional, Sini, Maria Christina, additional, Solano, Angela, additional, Soukupova, Jana, additional, Tedaldi, Gianluca, additional, Teixeira, Manuel, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Toland, Amanda, additional, Törngren, Therese, additional, Vaccari, Erica, additional, Varesco, Liliana, additional, Vega, Ana, additional, Wallis, Yvonne, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey, additional, Spurdle, Amanda B., additional, De Nicolo, Arcangela, additional, and Gómez-García, Encarna B., additional
Published: 2018
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27. Negative cooperativity between juxtaposed E-box and cAMP/TPA responsive elements in the cholecystokinin gene promoter

Author: Rourke, Ian J, Hansen, Thomas v.O, Nerlov, Claus, Rehfeld, Jens F, and Nielsen, Finn C
Published: 1999
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28. Next-Generation Sequencing–Based Detection of Germline Copy Number Variations in BRCA1 / BRCA2

Author: Schmidt, Ane Y., primary, Hansen, Thomas v.O., additional, Ahlborn, Lise B., additional, Jønson, Lars, additional, Yde, Christina W., additional, and Nielsen, Finn C., additional
Published: 2017
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29. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Author: Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Sokolowska, Johanna, Bronner, Myriam, Hansen, Thomas V.O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, M. K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Brauch, Hiltrud, Ko, Yon Dschun, Baisch, Christian, Fischer, Hand Peter, Bruening, Thomas, Pesch, Beate, Rabstein, Sylvia, Spickenheuer, Anne, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, M. J., Cox, Angela, Pharoah, Paul D.P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Rookus, M. A., van Leeuwen, F. E., Verhoef, S., de Lange, J. L., Collée, J. M., Seynaeve, C., van Deurzen, C. H.M., van Asperen, C. J., Tollenaar, R. A., Devilee, P., van Cronenburg, T. C.T.E.F., Mensenkamp, A. R., van der Luijt, R. B., van Os, T. A.M., Gille, J. J.P., Waisfisz, Q., Meijers-Heijboer, H. E.J., Gómez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, Drummond, Sarah, Brewer, Carole, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Izatt, Louise, Langman, Caroline, Brady, Angela, Dorkins, Huw, Melville, Athalie, Randhawa, Kashmir, Barwell, Julian, Serra-Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Douglas, Fiona, Claber, Oonagh, Collier, Rebecca, Jobson, Irene, Walker, Lisa, McLeod, Diane, Durell, Sarah, Stayner, Barbara, Eeles, Rosalind A., Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah, Sinilnikova, Olga, Verny-Pierre, Carole, Giraud, Sophie, Léone, Mélanie, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Tirapo, Carole, de Pauw, Antoine, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Bignon, Yves Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Handallou, Sandrine, Hardouin, Agnés, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Etienne, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Frénay, Marc, Vénat-Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie L., Clinical Genetics, Medical Oncology, Human Genetics, Human genetics, EMGO - Quality of care, Anesthesiology, CCA - Oncogenesis, CCA - Cancer biology and immunology, Epidemiology and Data Science, Department of Obstetrics and Gynecology, Clinicum, and Department of Medical and Clinical Genetics
Subjects: Cancer Research, SUSCEPTIBILITY ALLELES, Genome-wide association study, Aetiology, screening and detection [ONCOL 5], QH426-470, Settore MED/03 - GENETICA MEDICA, Genoma humà, SUBTYPES, Breast cancer, 0302 clinical medicine, Risk Factors, CDKN2A, Genotype, BRCA2 MUTATION CARRIERS, Malalties hereditàries, GWAS, skin and connective tissue diseases, Genetics (clinical), POPULATION, 2. Zero hunger, Genetics, 0303 health sciences, education.field_of_study, BRCA1 Protein, COMMON VARIANTS, genetic modifiers, BRCA2, cancer risk, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 6, Female, Genetic diseases, Adult, Heterozygote, Medizinische Fakultät -ohne weitere Spezifikation, education, Population, Breast Neoplasms, Single-nucleotide polymorphism, Locus (genetics), Human chromosomes, Biology, Polymorphism, Single Nucleotide, OVARIAN-CANCER, BRCA2-specific modifier locus at 6p24, Càncer de mama, 03 medical and health sciences, TRANSCRIPTION FACTOR AP-2, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, GENOME-WIDE ASSOCIATION, Molecular Biology, Alleles, Ecology, Evolution, Behavior and Systematics, Aged, 030304 developmental biology, BRCA2 Protein, Cromosomes humans, Human genome, Hereditary cancer and cancer-related syndromes [ONCOL 1], CONSORTIUM, medicine.disease, Mutation, 3111 Biomedicine, ZNF365, Genome-Wide Association Study
Abstract: Contains fulltext : 118578.pdf (Publisher’s version ) (Open Access) Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9x10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.
Published: 2013

30. IMP3 RNP Safe Houses Prevent miRNA-Directed HMGA2 mRNA Decay in Cancer and Development

Author: Jønson, Lars, primary, Christiansen, Jan, additional, Hansen, Thomas V.O., additional, Vikeså, Jonas, additional, Yamamoto, Yohei, additional, and Nielsen, Finn C., additional
Published: 2014
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31. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author: University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Medicum, Couch, Fergus J., Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B., Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M., Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M., Lee, Adam, Bacot, Francois, Vincent, Daniel, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M., Piedmonte, Marion, Singer, Christian F., Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V.O., Neuhausen, Susan L., Szabo, Csilla I., Blanco, Ignacio, Greene, Mark H., Karlan, Beth Y., Garber, Judy, Phelan, Catherine M., Weitzel, Jeffrey N., Montagna, Marco, Olah, Edith, Andrulis, Irene L., Godwin, Andrew K., Yannoukakos, Drakoulis, Goldgar, David E., Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B., Van Rensburg, Elizabeth J., Hamann, Ute, Ramus, Susan J., Toland, Amanda Ewart, Caligo, Maria A., Olopade, Olufunmilayo I., Tung, Nadine, Claes, Kathleen, Beattie, Mary S., Southey, Melissa C., Imyanitov, Evgeny N., Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M., Kwong, Ava, Diez, Orland, Balmana, Judith, Barkardottir, Rosa B., Arun, Banu K., Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A., Campbell, Ian, Van der Hout, Annemarie H., Van Deurzen, Carolien H.M., Seynaeve, Caroline, Garcia, Encarna B. Gomez, Van Leeuwen, Flora E., Meijers-Heijboer, Hanne E.J., Gille, Johannes J.P., Ausems, Margreet G.E.M., Blok, Marinus J., Ligtenberg, Marjolijn J.L., Rookus, Matti A., Devilee, Peter, Verhoef, Senno, Van Os, Theo A.M., Wijnen, Juul T., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Izatt, Louise, Eeles, Rosalind A., Adlard, Julian, Eccles, Diana M., Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley, Morrison, Patrick J., Side, Lucy E., Donaldson, Alan, Houghton, Catherine, Rogers, Mark T., Dorkins, Huw, Eason, Jacqueline, Gregory, Helen, McCann, Emma, Murray, Alex, Calender, Alain, Hardouin, Agnes, Berthet, Pascaline, Delnatte, Capucine, Nogues, Catherine, Lasset, Christine, Houdayer, Claude, Leroux, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca, Sobol, Hagay, Coupier, Isabelle, Venat-Bouvet, Laurence, Castera, Laurent, Gauthier-Villars, Marion, Leone, Melanie, Pujol, Pascal, Mazoyer, Sylvie, Bignon, Yves-Jean, Zlowocka-Perlowska, Elzbieta, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska, Katarzyna, Huzarski, Tomasz, Spurdle, Amanda B., Viel, Alessandra, Peissel, Bernard, Bonanni, Bernardo, Melloni, Giulia, Ottini, Laura, Papi, Laura, Varesco, Liliana, Tibiletti, Maria Grazia, Peterlongo, Paolo, Volorio, Sara, Manoukian, Siranoush, Pensotti, Valeria, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Gadzicki, Dorothea, Gehrig, Andrea, Kast, Karin, Rhiem, Kerstin, Meindl, Alfons, Niederacher, Dieter, Ditsch, Nina, Plendl, Hansjoerg, Preisler-Adams, Sabine, Engert, Stefanie, Sutter, Christian, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Weber, Bernhard H.F., Arver, Brita, Stenmark-Askmalm, Marie, Loman, Niklas, Rosenquist, Richard, Einbeigi, Zakaria, Nathanson, Katherine L., Rebbeck, Timothy R., Blank, Stephanie V., Cohn, David E., Rodriguez, Gustavo C., Small, Laurie, Friedlander, Michael, Bae-Jump, Victoria L., Fink-Retter, Anneliese, Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Lindor, Noralane M., Kaufman, Bella, Paluch, Shani Shimon, Laitman, Yael, Skytte, Anne-Bine, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Vijai, Joseph, Sarrel, Kara, Robson, Mark, Kauff, Noah, Mulligan, Anna Marie, Glendon, Gord, Ozcelik, Hilmi, Ejlertsen, Bent, Nielsen, Finn C., Jonson, Lars, Andersen, Mette K., Ding, Yuan Chun, Steele, Linda, Foretova, Lenka, Teule, Alex, Lazaro, Conxi, Brunet, Joan, Angel Pujana, Miquel, Mai, Phuong L., Loud, Jennifer T., Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Narod, Steven A., Herzog, Josef, Sand, Sharon R., Tognazzo, Silvia, Agata, Simona, Vaszko, Tibor, Weaver, Joellen, Stavropoulou, Alexandra V., Buys, Saundra S., Romero, Atocha, De la Hoya, Miguel, Aittomäki, Kristiina, Muranen, Taru A., Duran, Mercedes, Chung, Wendy K., Lasa, Adriana, Dorfling, Cecilia M., Miron, Alexander, Benitez, Javier, Senter, Leigha, Huo, Dezheng, Chan, Salina B., Sokolenko, Anna P., Chiquette, Jocelyne, Tihomirova, Laima, Friebel, Tara M., Agnarsson, Bjarni A., Lu, Karen H., Lejbkowicz, Flavio, James, Paul A., Hall, Per, Dunning, Alison M., Tessier, Daniel, Cunningham, Julie, Slager, Susan L., Wang, Chen, Hart, Steven, Stevens, Kristen, Simard, Jacques, Pastinen, Tomi, Pankratz, Vernon S., Offit, Kenneth, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., KConFab Investigators, SWE-BRCA, Ontario Canc Genetics Network, HEBON, EMBRACE, GEMO Study Collaborators, BCFR, CIMBA, University of Helsinki, Department of Obstetrics and Gynecology, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Medicum, Couch, Fergus J., Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B., Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M., Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M., Lee, Adam, Bacot, Francois, Vincent, Daniel, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M., Piedmonte, Marion, Singer, Christian F., Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V.O., Neuhausen, Susan L., Szabo, Csilla I., Blanco, Ignacio, Greene, Mark H., Karlan, Beth Y., Garber, Judy, Phelan, Catherine M., Weitzel, Jeffrey N., Montagna, Marco, Olah, Edith, Andrulis, Irene L., Godwin, Andrew K., Yannoukakos, Drakoulis, Goldgar, David E., Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B., Van Rensburg, Elizabeth J., Hamann, Ute, Ramus, Susan J., Toland, Amanda Ewart, Caligo, Maria A., Olopade, Olufunmilayo I., Tung, Nadine, Claes, Kathleen, Beattie, Mary S., Southey, Melissa C., Imyanitov, Evgeny N., Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M., Kwong, Ava, Diez, Orland, Balmana, Judith, Barkardottir, Rosa B., Arun, Banu K., Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A., Campbell, Ian, Van der Hout, Annemarie H., Van Deurzen, Carolien H.M., Seynaeve, Caroline, Garcia, Encarna B. Gomez, Van Leeuwen, Flora E., Meijers-Heijboer, Hanne E.J., Gille, Johannes J.P., Ausems, Margreet G.E.M., Blok, Marinus J., Ligtenberg, Marjolijn J.L., Rookus, Matti A., Devilee, Peter, Verhoef, Senno, Van Os, Theo A.M., Wijnen, Juul T., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Izatt, Louise, Eeles, Rosalind A., Adlard, Julian, Eccles, Diana M., Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley, Morrison, Patrick J., Side, Lucy E., Donaldson, Alan, Houghton, Catherine, Rogers, Mark T., Dorkins, Huw, Eason, Jacqueline, Gregory, Helen, McCann, Emma, Murray, Alex, Calender, Alain, Hardouin, Agnes, Berthet, Pascaline, Delnatte, Capucine, Nogues, Catherine, Lasset, Christine, Houdayer, Claude, Leroux, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca, Sobol, Hagay, Coupier, Isabelle, Venat-Bouvet, Laurence, Castera, Laurent, Gauthier-Villars, Marion, Leone, Melanie, Pujol, Pascal, Mazoyer, Sylvie, Bignon, Yves-Jean, Zlowocka-Perlowska, Elzbieta, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska, Katarzyna, Huzarski, Tomasz, Spurdle, Amanda B., Viel, Alessandra, Peissel, Bernard, Bonanni, Bernardo, Melloni, Giulia, Ottini, Laura, Papi, Laura, Varesco, Liliana, Tibiletti, Maria Grazia, Peterlongo, Paolo, Volorio, Sara, Manoukian, Siranoush, Pensotti, Valeria, Arnold, Norbert, Engel, Christoph, Deissler, Helmut, Gadzicki, Dorothea, Gehrig, Andrea, Kast, Karin, Rhiem, Kerstin, Meindl, Alfons, Niederacher, Dieter, Ditsch, Nina, Plendl, Hansjoerg, Preisler-Adams, Sabine, Engert, Stefanie, Sutter, Christian, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Weber, Bernhard H.F., Arver, Brita, Stenmark-Askmalm, Marie, Loman, Niklas, Rosenquist, Richard, Einbeigi, Zakaria, Nathanson, Katherine L., Rebbeck, Timothy R., Blank, Stephanie V., Cohn, David E., Rodriguez, Gustavo C., Small, Laurie, Friedlander, Michael, Bae-Jump, Victoria L., Fink-Retter, Anneliese, Rappaport, Christine, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Lindor, Noralane M., Kaufman, Bella, Paluch, Shani Shimon, Laitman, Yael, Skytte, Anne-Bine, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk, Vijai, Joseph, Sarrel, Kara, Robson, Mark, Kauff, Noah, Mulligan, Anna Marie, Glendon, Gord, Ozcelik, Hilmi, Ejlertsen, Bent, Nielsen, Finn C., Jonson, Lars, Andersen, Mette K., Ding, Yuan Chun, Steele, Linda, Foretova, Lenka, Teule, Alex, Lazaro, Conxi, Brunet, Joan, Angel Pujana, Miquel, Mai, Phuong L., Loud, Jennifer T., Walsh, Christine, Lester, Jenny, Orsulic, Sandra, Narod, Steven A., Herzog, Josef, Sand, Sharon R., Tognazzo, Silvia, Agata, Simona, Vaszko, Tibor, Weaver, Joellen, Stavropoulou, Alexandra V., Buys, Saundra S., Romero, Atocha, De la Hoya, Miguel, Aittomäki, Kristiina, Muranen, Taru A., Duran, Mercedes, Chung, Wendy K., Lasa, Adriana, Dorfling, Cecilia M., Miron, Alexander, Benitez, Javier, Senter, Leigha, Huo, Dezheng, Chan, Salina B., Sokolenko, Anna P., Chiquette, Jocelyne, Tihomirova, Laima, Friebel, Tara M., Agnarsson, Bjarni A., Lu, Karen H., Lejbkowicz, Flavio, James, Paul A., Hall, Per, Dunning, Alison M., Tessier, Daniel, Cunningham, Julie, Slager, Susan L., Wang, Chen, Hart, Steven, Stevens, Kristen, Simard, Jacques, Pastinen, Tomi, Pankratz, Vernon S., Offit, Kenneth, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., KConFab Investigators, SWE-BRCA, Ontario Canc Genetics Network, HEBON, EMBRACE, GEMO Study Collaborators, BCFR, and CIMBA
Published: 2013

32. Association of the leucine-7 to proline-7 variation in the signal sequence of neuropeptide Y with major depression

Author: Koefoed, Pernille, Woldbye, David Paul Drucker, Hansen, Thomas v.O, Eplov, Lene F, Christiansen, Søren Hofman Oliveira, Mors, Ole, Kessing, Lars Vedel, Werge, Thomas, Kaipio, Katja, Pesonen, Ullamani, Fahmy, Thomas, Mellerup, Erling Thyge, Jakobsen, Klaus D, Hansen, Elsebeth S, Knudsen, Gitte Moos, Bukh, Jens D, Bock, Camilla, Lindberg, Camilla, Kristensen, Ann S, Dam, Henrik, Nordentoft, Merete, Als, Thomas D, Wang, August G., Gether, Ulrik, Rehfeld, Jens Frederik, Bolwig, Tom Gert, Koefoed, Pernille, Woldbye, David Paul Drucker, Hansen, Thomas v.O, Eplov, Lene F, Christiansen, Søren Hofman Oliveira, Mors, Ole, Kessing, Lars Vedel, Werge, Thomas, Kaipio, Katja, Pesonen, Ullamani, Fahmy, Thomas, Mellerup, Erling Thyge, Jakobsen, Klaus D, Hansen, Elsebeth S, Knudsen, Gitte Moos, Bukh, Jens D, Bock, Camilla, Lindberg, Camilla, Kristensen, Ann S, Dam, Henrik, Nordentoft, Merete, Als, Thomas D, Wang, August G., Gether, Ulrik, Rehfeld, Jens Frederik, and Bolwig, Tom Gert
Abstract: Objective: There is clear evidence of a genetic component in major depression, and several studies indicate that neuropeptide Y (NPY) could play an important role in the pathophysiology of the disease. A well-known polymorphism encoding the substitution of leucine to proline in the signal peptide sequence of NPY (Leu7Pro variation) was previously found to protect against depression. Our study aimed at replicating this association in a large Danish population with major depression. Method: Leu7Pro was studied in a sample of depressed patients and ethnically matched controls, as well as psychiatric disease controls with schizophrenia. Possible functional consequences of Leu7Pro were explored in vitro. Results: In contrast to previous studies, Pro7 appeared to be a risk allele for depression, being significantly more frequent in the depression sample (5.5%, n = 593; p = 0.009; odds ratio, OR: 1.46) as compared to ethnically matched controls (3.8%, n = 2912), while schizophrenia patients (4.1%, n = 503) did not differ. In vitro, the Pro7 substitution appeared to be associated with reduced levels of NPY without affecting its mRNA level. Conclusion: The Leu7Pro variation may increase the risk of major depression, possibly by affecting the biosynthesis of NPY. Pernille
Published: 2012

33. Characteristics of the Danish families with multiple endocrine neoplasia type 1

Author: Jäger, Anne Charlotte, Friis-Hansen, Lennart, Hansen, Thomas v.O., Eskildsen, Peter C., Sølling, Karsten, Knigge, Ulrich, Hansen, Carsten P., Andersen, Per H., Brixen, Kim, Feldt-Rasmussen, Ulla, Kroustrup, Jens Peter, Mollerup, Charlotte L., Rehfeld, Jens F., Blichert-Toft, Mogens, Nielsen, Finn C., Jäger, Anne Charlotte, Friis-Hansen, Lennart, Hansen, Thomas v.O., Eskildsen, Peter C., Sølling, Karsten, Knigge, Ulrich, Hansen, Carsten P., Andersen, Per H., Brixen, Kim, Feldt-Rasmussen, Ulla, Kroustrup, Jens Peter, Mollerup, Charlotte L., Rehfeld, Jens F., Blichert-Toft, Mogens, and Nielsen, Finn C.
Abstract: Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered to patients with pHPT or gastrinomas after thorough investigation into the family history. In contrast, sporadic carcinoid tumours or primary prolactinomas are rarely associated with germ-line MEN1 mutations.
Published: 2006

34. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Couch, Fergus J., primary, Gaudet, Mia M., additional, Antoniou, Antonis C., additional, Ramus, Susan J., additional, Kuchenbaecker, Karoline B., additional, Soucy, Penny, additional, Beesley, Jonathan, additional, Chen, Xiaoqing, additional, Wang, Xianshu, additional, Kirchhoff, Tomas, additional, McGuffog, Lesley, additional, Barrowdale, Daniel, additional, Lee, Andrew, additional, Healey, Sue, additional, Sinilnikova, Olga M., additional, Andrulis, Irene L., additional, Ozcelik, Hilmi, additional, Mulligan, Anna Marie, additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Jensen, Uffe Birk, additional, Skytte, Anne-Bine, additional, Kruse, Torben A., additional, Caligo, Maria A., additional, von Wachenfeldt, Anna, additional, Barbany-Bustinza, Gisela, additional, Loman, Niklas, additional, Soller, Maria, additional, Ehrencrona, Hans, additional, Karlsson, Per, additional, Nathanson, Katherine L., additional, Rebbeck, Timothy R., additional, Domchek, Susan M., additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Jaworska, Katarzyna, additional, Durda, Katarzyna, additional, Złowocka, Elżbieta, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Gronwald, Jacek, additional, Cybulski, Cezary, additional, Górski, Bohdan, additional, Osorio, Ana, additional, Durán, Mercedes, additional, Tejada, María Isabel, additional, Benitez, Javier, additional, Hamann, Ute, additional, Hogervorst, Frans B.L., additional, van Os, Theo A., additional, van Leeuwen, Flora E., additional, Meijers-Heijboer, Hanne E.J., additional, Wijnen, Juul, additional, Blok, Marinus J., additional, Kets, Marleen, additional, Hooning, Maartje J., additional, Oldenburg, Rogier A., additional, Ausems, Margreet G.E.M., additional, Peock, Susan, additional, Frost, Debra, additional, Ellis, Steve D., additional, Platte, Radka, additional, Fineberg, Elena, additional, Evans, D. Gareth, additional, Jacobs, Chris, additional, Eeles, Rosalind A., additional, Adlard, Julian, additional, Davidson, Rosemarie, additional, Eccles, Diana M., additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Brewer, Carole, additional, Douglas, Fiona, additional, Hodgson, Shirley V., additional, Morrison, Patrick J., additional, Walker, Lisa, additional, Porteous, Mary E., additional, Kennedy, M. John, additional, Side, Lucy E., additional, Bove, Betsy, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, Fassy-Colcombet, Marion, additional, Castera, Laurent, additional, Cornelis, François, additional, Mazoyer, Sylvie, additional, Léoné, Mélanie, additional, Boutry-Kryza, Nadia, additional, Bressac-de Paillerets, Brigitte, additional, Caron, Olivier, additional, Pujol, Pascal, additional, Coupier, Isabelle, additional, Delnatte, Capucine, additional, Akloul, Linda, additional, Lynch, Henry T., additional, Snyder, Carrie L., additional, Buys, Saundra S., additional, Daly, Mary B., additional, Terry, MaryBeth, additional, Chung, Wendy K., additional, John, Esther M., additional, Miron, Alexander, additional, Southey, Melissa C., additional, Hopper, John L., additional, Goldgar, David E., additional, Singer, Christian F., additional, Rappaport, Christine, additional, Tea, Muy-Kheng M., additional, Fink-Retter, Anneliese, additional, Hansen, Thomas V.O., additional, Nielsen, Finn C., additional, Arason, Aðalgeir, additional, Vijai, Joseph, additional, Shah, Sohela, additional, Sarrel, Kara, additional, Robson, Mark E., additional, Piedmonte, Marion, additional, Phillips, Kelly, additional, Basil, Jack, additional, Rubinstein, Wendy S., additional, Boggess, John, additional, Wakeley, Katie, additional, Ewart-Toland, Amanda, additional, Montagna, Marco, additional, Agata, Simona, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Janavicius, Ramunas, additional, Lazaro, Conxi, additional, Blanco, Ignacio, additional, Feliubadalo, Lidia, additional, Brunet, Joan, additional, Gayther, Simon A., additional, Pharoah, Paul P.D., additional, Odunsi, Kunle O., additional, Karlan, Beth Y., additional, Walsh, Christine S., additional, Olah, Edith, additional, Teo, Soo Hwang, additional, Ganz, Patricia A., additional, Beattie, Mary S., additional, van Rensburg, Elizabeth J., additional, Dorfling, Cecelia M., additional, Diez, Orland, additional, Kwong, Ava, additional, Schmutzler, Rita K., additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Ditsch, Nina, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Niederacher, Dieter, additional, Preisler-Adams, Sabine, additional, Gadzicki, Dorothea, additional, Varon-Mateeva, Raymonda, additional, Deissler, Helmut, additional, Gehrig, Andrea, additional, Sutter, Christian, additional, Kast, Karin, additional, Fiebig, Britta, additional, Heinritz, Wolfram, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Muranen, Taru A., additional, Nevanlinna, Heli, additional, Tischkowitz, Marc D., additional, Spurdle, Amanda B., additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Lindor, Noralane M., additional, Fredericksen, Zachary, additional, Pankratz, V. Shane, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Bernard, Loris, additional, Viel, Alessandra, additional, Giannini, Giuseppe, additional, Varesco, Liliana, additional, Radice, Paolo, additional, Greene, Mark H., additional, Mai, Phuong L., additional, Easton, Douglas F., additional, Chenevix-Trench, Georgia, additional, Offit, Kenneth, additional, and Simard, Jacques, additional
Published: 2012
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35. A method for detecting IBD regions simultaneously in multiple individuals—with applications to disease genetics

Author: Moltke, Ida, primary, Albrechtsen, Anders, additional, Hansen, Thomas v.O., additional, Nielsen, Finn C., additional, and Nielsen, Rasmus, additional
Published: 2011
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36. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author: Antoniou, Antonis C., primary, Beesley, Jonathan, additional, McGuffog, Lesley, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Rebbeck, Timothy R., additional, Weitzel, Jeffrey N., additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Ganz, Patricia A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Couch, Fergus J., additional, Wang, Xianshu, additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Radice, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Viel, Alessandra, additional, Allavena, Anna, additional, Dall'Olio, Valentina, additional, Peterlongo, Paolo, additional, Szabo, Csilla I., additional, Zikan, Michal, additional, Claes, Kathleen, additional, Poppe, Bruce, additional, Foretova, Lenka, additional, Mai, Phuong L., additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Andrulis, Irene L., additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Sunde, Lone, additional, Cruger, Dorthe, additional, Birk Jensen, Uffe, additional, Caligo, Maria, additional, Friedman, Eitan, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Dubrovsky, Maya, additional, Cohen, Shimrit, additional, Borg, Ake, additional, Jernström, Helena, additional, Lindblom, Annika, additional, Rantala, Johanna, additional, Stenmark-Askmalm, Marie, additional, Melin, Beatrice, additional, Nathanson, Kate, additional, Domchek, Susan, additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Huzarski, Tomasz, additional, Osorio, Ana, additional, Lasa, Adriana, additional, Durán, Mercedes, additional, Tejada, Maria-Isabel, additional, Godino, Javier, additional, Benitez, Javier, additional, Hamann, Ute, additional, Kriege, Mieke, additional, Hoogerbrugge, Nicoline, additional, van der Luijt, Rob B., additional, Asperen, Christi J. van, additional, Devilee, Peter, additional, Meijers-Heijboer, E.J., additional, Blok, Marinus J., additional, Aalfs, Cora M., additional, Hogervorst, Frans, additional, Rookus, Matti, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Conroy, Don, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Pichert, Gabriella, additional, Davidson, Rosemarie, additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Porteous, Mary E., additional, Walker, Lisa, additional, Kennedy, M. John, additional, Dorkins, Huw, additional, Peock, Susan, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, de Pauw, Antoine, additional, Mazoyer, Sylvie, additional, Bonadona, Valérie, additional, Lasset, Christine, additional, Dreyfus, Hélène, additional, Leroux, Dominique, additional, Hardouin, Agnès, additional, Berthet, Pascaline, additional, Faivre, Laurence, additional, Loustalot, Catherine, additional, Noguchi, Tetsuro, additional, Sobol, Hagay, additional, Rouleau, Etienne, additional, Nogues, Catherine, additional, Frénay, Marc, additional, Vénat-Bouvet, Laurence, additional, Hopper, John L., additional, Daly, Mary B., additional, Terry, Mary B., additional, John, Esther M., additional, Buys, Saundra S., additional, Yassin, Yosuf, additional, Miron, Alexander, additional, Goldgar, David, additional, Singer, Christian F., additional, Dressler, Anne Catharina, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Hansen, Thomas V.O., additional, Jønson, Lars, additional, Agnarsson, Bjarni A., additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Devlin, Vincent, additional, Dutra-Clarke, Ana, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo C., additional, Wakeley, Katie, additional, Boggess, John F., additional, Basil, Jack, additional, Schwartz, Peter E., additional, Blank, Stephanie V., additional, Toland, Amanda Ewart, additional, Montagna, Marco, additional, Casella, Cinzia, additional, Imyanitov, Evgeny, additional, Tihomirova, Laima, additional, Blanco, Ignacio, additional, Lazaro, Conxi, additional, Ramus, Susan J., additional, Sucheston, Lara, additional, Karlan, Beth Y., additional, Gross, Jenny, additional, Schmutzler, Rita, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Lochmann, Magdalena, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Varon-Mateeva, Raymonda, additional, Niederacher, Dieter, additional, Sutter, Christian, additional, Deissler, Helmut, additional, Gadzicki, Dorothea, additional, Preisler-Adams, Sabine, additional, Kast, Karin, additional, Schönbuchner, Ines, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Aittomäki, Kristiina, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Spurdle, Amanda B., additional, Holland, Helene, additional, Chen, Xiaoqing, additional, Platte, Radka, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional
Published: 2010
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37. Neuropeptide Y infusion into the shell region of the rat nucleus accumbens increases extracellular levels of dopamine

Author: Sørensen, Gunnar, primary, Wegener, Gregers, additional, Hasselstrøm, Jørgen, additional, Hansen, Thomas V.O., additional, Wörtwein, Gitta, additional, Fink-Jensen, Anders, additional, and Woldbye, David P.D., additional
Published: 2009
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38. Characteristics of the Danish families with multiple endocrine neoplasia type 1

Author: Jäger, Anne Charlotte, primary, Friis-Hansen, Lennart, additional, Hansen, Thomas v.O., additional, Eskildsen, Peter C., additional, Sølling, Karsten, additional, Knigge, Ulrich, additional, Hansen, Carsten P., additional, Andersen, Per H., additional, Brixen, Kim, additional, Feldt-Rasmussen, Ulla, additional, Kroustrup, Jens Peter, additional, Mollerup, Charlotte L., additional, Rehfeld, Jens F., additional, Blichert-Toft, Mogens, additional, and Nielsen, Finn C., additional
Published: 2006
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39. KCl potentiates forskolin-induced PC12 cell neurite outgrowth via protein kinase A and extracellular signal-regulated kinase signaling pathways

Author: Hansen, Thomas v.O., primary, Rehfeld, Jens F., additional, and Nielsen, Finn C., additional
Published: 2003
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40. Human insulin-like growth factor II leader 2 mediates internal initiation of translation

Author: PEDERSEN, Susanne K., primary, CHRISTIANSEN, Jan, additional, HANSEN, Thomas v.O., additional, LARSEN, Martin R., additional, and NIELSEN, Finn C., additional
Published: 2002
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41. Cholecystokinin gene transcription: promoter elements, transcription factors and signaling pathways

Author: Hansen, Thomas v.O, primary
Published: 2001
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42. A distal Sp 1-element is necessary for maximal activity of the human gastrin gene promoter

Author: R. Bundgaard, Jens, Hansen, Thomas v.O., Friis-Hansen, Lennart, Rourke, Ian J., van Solinge, Wouter W., Nielsen, Finn C., Rehfeld, Jens F., R. Bundgaard, Jens, Hansen, Thomas v.O., Friis-Hansen, Lennart, Rourke, Ian J., van Solinge, Wouter W., Nielsen, Finn C., and Rehfeld, Jens F.
Abstract: Studies of transgenic mice have shown that transcriptional control of the gastrin gene exhibits significant species differences. Transfection of the human gastrin promoter in murine cells have depicted proximal Sp1, E-box and CACC elements as the major determinants of transcription. We have examined cis-regulatory elements of the human promoter in a human gastrin expressing cell line and find that a distal -135 to -142 Sp1 element is necessary for maximal activity. Alignment of the mouse and human promoters shows that the proximal human Sp1 and CACC elements are not conserved, whereas the E-box element is retained. The distal Spl element is present in mouse but exhibits a C to T transition in the core that is likely to reduce binding affinity of Sp1. We conclude that gastrin gene transcription is regulated by distinct elements in man and rodents.
Published: 1995

43. Regulation of cholecystokinin gene expression

Author: Hansen, Thomas v.O., primary, Rehfeld, Jens F., additional, and Nielsen, Finn C., additional
Published: 2000
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44. Composite action of three GC/GT boxes in the proximal promoter region is important for gastrin gene transcription

Author: Hansen, Thomas v.O, primary, Bundgaard, Jens R, additional, Nielsen, Finn C, additional, and Rehfeld, Jens F, additional
Published: 1999
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45. Transcriptional Regulation of the Human Cholecystokinin Gene: Composite Action of Upstream Stimulatory Factor, Sp1, and Members of the CREB/ATF-AP-1 Family of Transcription Factors

Author: NIELSEN, FINN C., primary, PEDERSEN, KARIN, additional, HANSEN, THOMAS V.O., additional, ROURKE, IAN J., additional, and REHFELD, JENS F., additional
Published: 1996
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46. A distal Sp 1-element is necessary for maximal activity of the human gastrin gene promoter

Author: R. Bundgaard, Jens, primary, Hansen, Thomas v.O., additional, Friis-Hansen, Lennart, additional, Rourke, Ian J., additional, van Solinge, Wouter W., additional, Nielsen, Finn C., additional, and Rehfeld, Jens F., additional
Published: 1995
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47. Neuropeptide Y infusion into the shell region of the rat nucleus accumbens increases extracellular levels of dopamine.

Author: S⊘rensen, Gunnar, Wegener, Gregers, Hasselstr⊘m, J⊘rgen, Hansen, Thomas V.o., Wörtwein, Gitta, Fink-Jensen, Anders, and Woldbye, David P.d.
Published: 2009
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48. Dwarfism and Impaired Gut Development in Insulin-Like Growth Factor II mRNA-Binding Protein 1-Deficient Mice.

Author: Hansen, Thomas V.O., Hammer, Niels A., Nielsen, Jacob, Madsen, Mette, Dalbaeck, Charlotte, Wewer, Ulla M., Christiansen, Jan, and Nielsen, Finn C.
Subjects: *SOMATOMEDIN, *INSULIN-like growth factor-binding proteins, *CARRIER proteins, *GENE expression, *DEVELOPMENTAL genetics, *DEVELOPMENTAL biology
Abstract: Insulin-like growth factor II mRNA-binding protein 1 (IMP1) belongs to a family of RNA-binding proteins implicated in mRNA localization, turnover, and translational control. Mouse IMPI is expressed during early development, and an increase in expression occurs around embryonic day 12.5 (E12.5). To characterize the physiological role of IMP1, we generated IMP1-deficient mice carrying a gene trap insertion in the Imp1 gene. Imp1-/- mice were on average 40% smaller than wild-type and heterozygous sex-matched littermates. Growth retardation was apparent from E17.5 and remained permanent into adult life. Moreover, Imp1-/- mice exhibited high perinatal mortality, and only 50% were alive 3 days after birth. In contrast to most other organs, intestinal epithelial cells continue to express IMP1 postnatally, and Imp1-/- mice exhibited impaired development of the intestine, with small and misshapen villi and twisted colon crypts. Analysis of target mRNAs and global expression profiling at E12.5 indicated that Igf2 translation was downregulated, whereas the postnatal intestine showed reduced expression of transcripts encoding extracellular matrix components, such as galectin1, lumican, tenascin-C, procollagen transcripts, and the Hsp47 procollagen chaperone. Taken together, the results demonstrate that IMP1 is essential for normal growth and development. Moreover, IMP1 may facilitate intestinal morphogenesis via regulation of extrace!lular matrix formation. [ABSTRACT FROM AUTHOR]
Published: 2004
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49. KCl and forskolin synergistically up-regulate cholecystokinin gene expression via coordinate activation of CREB and the co-activator CBP.

Author: Hansen, Thomas V.O., Rehfeld, Jens F., and Nielsen, Finn C.
Subjects: *CHOLECYSTOKININ, *NEUROPEPTIDES, *FORSKOLIN, *ANTIHYPERTENSIVE agents, *GENE expression, *CYCLIC adenylic acid
Abstract: Cholecystokinin (CCK) is one of the most abundant peptide transmitters in the mammalian brain. Despite the physiological significance of CCK expression in long-term memory and psychiatric disorders, little is known about the factors that regulate the expression of CCK peptides. Here, we report that KCl and forskolin synergistically increase CCK gene transcription via protein kinase A (PKA) and extracellular signal-regulated kinase (ERK) signalling pathways, activating cAMP response element-binding protein (CREB) associated with the CRE(− 80) element of the CCK promoter. Whereas, CREB Ser133 phosphorylation was essential for transcriptional activation, the synergistic stimulation was not correlated to the level of Ser133 phosphorylation, indicating that recruitment and/or activation of additional downstream factors were required for maximal stimulation. Transcriptional activation was reduced by co-expression of adenovirus 12S E1A, that inhibits binding of CREB-binding protein (CBP) to CREB. Moreover GAL4-CREB-DIEDML, which mediates the phosphorylation-independent binding of CBP, and the C-terminal domain of CBP was synergistically activated by forskolin and KCl. Taken together the results imply that neuronal CCK gene transcription is regulated by the cumulative action of calcium and cAMP via stimulation of the PKA and ERK signalling pathways and that synergy is accomplished by the coordinate activation of CREB and CBP. [ABSTRACT FROM AUTHOR]
Published: 2004
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50. IMP3 RNP Safe Houses Prevent miRNA-Directed HMGA2mRNA Decay in Cancer and Development

Author: Jønson, Lars, Christiansen, Jan, Hansen, Thomas V.O., Vikeså, Jonas, Yamamoto, Yohei, and Nielsen, Finn C.
Abstract: The IMP3 RNA-binding protein is associated with metastasis and poor outcome in human cancer. Using solid cancer transcriptome data, we found that IMP3correlates with HMGA2mRNA expression. Cytoplasmic IMP3 granules contain HMGA2, and IMP3 dose-dependently increases HMGA2mRNA. HMGA2is regulated by let-7, and let-7antagomiRs make HMGA2refractory to IMP3. Removal of let-7target sites eliminates IMP3-dependent stabilization, and IMP3-containing bodies are depleted of Ago1-4 and miRNAs. The relationship between Hmga2mRNA and IMPs also exists in the developing limb bud, where IMP1-deficient embryos show dose-dependent Hmga2mRNA downregulation. Finally, IMP3 ribonucleoproteins (RNPs) contain other let-7target mRNAs, including LIN28B, and a global gene set enrichment analysis demonstrates that miRNA-regulated transcripts in general are upregulated following IMP3 induction. We conclude that IMP3 RNPs may function as cytoplasmic safe houses and prevent miRNA-directed mRNA decay of oncogenes during tumor progression.
Published: 2014
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