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

Author

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

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Cancer, Breast Cancer, Genetics, Ovarian Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Female, Virulence, BRCA1 Protein, BRCA2 Protein, Ovarian Neoplasms, Genetic Predisposition to Disease, Breast Neoplasms, HEBON Investigators, GEMO Study Collaborators, AOCS Group, CZECANCA Consortium, Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

Published
2023

3. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Author

Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, and De Luca, Alessandro

Published
2024
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4. A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome

Author

Bottillo, Irene, Valiante, Michele, Menale, Lucia, Paiardini, Alessandro, Papi, Laura, Janson, Giacomo, Sestini, Roberta, Iorio, Alessandra, De Simone, Paola, Frascione, Pasquale, and Grammatico, Paola

Subjects
PCMS, cutaneous melanoma, p16, pancreatic cancer, germline mutation
Abstract

Pancreatic cancer-melanoma syndrome (PCMS) is an inherited condition in which mutation carriers have an increased risk of malignant melanoma and/or pancreatic cancer. About 30% of PCMS cases carry mutations in CDKN2A. This gene encodes several protein isoforms, one of which, known as p16, regulates the cell-cycle by interacting with CDK4/CDK6 kinases and with several non-CDK proteins. Herein, we report on a novel CDKN2A germline in-frame deletion (c.52_57delACGGCC) found in an Italian family with PCMS. By segregation analysis, the c.52_57delACGGCC was proven to segregate in kindred with cutaneous melanoma (CM), in kindred with CM and pancreatic cancer, and in a single case presenting only with pancreatic cancer. In the literature, duplication mapping in the same genic region has been already reported at the germline level in several unrelated CM cases as a variant of unknown clinical significance. A computational approach for studying the effect of mutational changes over p16 protein structure showed that both the deletion and the duplication of the c.52_57 nucleotides result in protein misfolding and loss of interactors' binding. In conclusion, the present results argue that the quantitative alteration of nucleotides c.52_57 has a pathogenic role in p16 function and that the c.52_57delACGGCC is associated with PCMS.

Published
2020

5. ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

Author

Evans, D. Gareth, Mostaccioli, Stefania, Pang, David, Fadzil O Connor, Mary, Pittara, Melpo, Champollion, Nicolas, Wolkenstein, Pierre, Thomas, Nick, Ferner, Rosalie E., Kalamarides, Michel, Peyre, Matthieu, Papi, Laura, Legius, Eric, Becerra, Juan Luis, King, Andrew, Duff, Chris, Stivaros, Stavros, and Blanco, Ignacio

Published
2022
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6. A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases

Author

Becherucci, Francesca, Landini, Samuela, Palazzo, Viviana, Cirillo, Luigi, Raglianti, Valentina, Lugli, Gianmarco, Tiberi, Lucia, Dirupo, Elia, Bellelli, Stefania, Mazzierli, Tommaso, Lomi, Jacopo, Ravaglia, Fiammetta, Sansavini, Giulia, Allinovi, Marco, Giannese, Domenico, Somma, Chiara, Spatoliatore, Giuseppe, Vergani, Debora, Artuso, Rosangela, Rosati, Alberto, Cirami, Calogero, Dattolo, Pietro Claudio, Campolo, Gesualdo, De Chiara, Letizia, Papi, Laura, Vaglio, Augusto, Lazzeri, Elena, Anders, Hans-Joachim, Mazzinghi, Benedetta, and Romagnani, Paola

Published
2023
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7. 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, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.

Published
2022
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9. When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Author

Scott, Alexandra, Di Giosaffatte, Niccolò, Pinna, Valentina, Daniele, Paola, Corno, Sara, D’Ambrosio, Valentina, Andreucci, Elena, Marozza, Annabella, Sirchia, Fabio, Tortora, Giada, Mangiameli, Daniela, Di Marco, Chiara, Romagnoli, Maria, Donati, Ilaria, Zonta, Andrea, Grosso, Enrico, Naretto, Valeria Giorgia, Mastromoro, Gioia, Versacci, Paolo, Pantaleoni, Francesca, Radio, Francesca Clementina, Mazza, Tommaso, Damante, Giuseppe, Papi, Laura, Mattina, Teresa, Giancotti, Antonella, Pizzuti, Antonio, Laberge, Anne-Marie, Tartaglia, Marco, Delrue, Marie-Ange, and De Luca, Alessandro

Published
2021
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10. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author

Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Antoniou, Antonis, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Daly, Mary B., de la Hoya, Miguel, de Putter, Robin, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Ejlertsen, Bent, Engel, Christoph, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Noguès, Catherine, Isaacs, Claudine, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., and Antoniou, Antonis C.

Published
2020
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11. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

Author

Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, and Zadeh, Gelareh

Published
2021
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12. Correction: 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, Cook, Linda S., Couch, Fergus J., Daly, Mary B., Dao, Fanny, Davies, Eleanor, de la Hoya, Miguel, de Putter, Robin, Dennis, Joe, DePersia, Allison, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Eliassen, Heather A., Engel, Christoph, Evans, Gareth D., Fasching, Peter A., Flanagan, James M., Fortner, Renée T., Machackova, Eva, Friedman, Eitan, Ganz, Patricia A., Garber, Judy, Gensini, Francesca, Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V. O., Harris, Holly R., Hartman, Mikael, Heitz, Florian, Hildebrandt, Michelle A. T., Høgdall, Estrid, Høgdall, Claus K., Hopper, John L., Huang, Ruea-Yea, Huff, Chad, Hulick, Peter J., Huntsman, David G., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allan, Johannsson, Oskar Th., John, Esther M., Jones, Michael E., Kang, Daehee, Karlan, Beth Y., Karnezis, Anthony, Kelemen, Linda E., Khusnutdinova, Elza, Kiemeney, Lambertus A., Kim, Byoung-Gie, Kjaer, Susanne K., Komenaka, Ian, Kupryjanczyk, Jolanta, Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Larson, Melissa C., Lazaro, Conxi, Le, Nhu D., Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A., Li, Lian, Li, Jingmei, Loud, Jennifer T., Lu, Karen H., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Marks, Jeffrey R., Matsuno, Rayna Kim, Matsuo, Keitaro, May, Taymaa, McGuffog, Lesley, McLaughlin, John R., McNeish, Iain A., Mebirouk, Noura, Menon, Usha, Miller, Austin, Milne, Roger L., Minlikeeva, Albina, Modugno, Francesmary, Montagna, Marco, Moysich, Kirsten B., Munro, Elizabeth, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nielsen, Henriette Roed, Nielsen, Finn C., Nikitina-Zake, Liene, Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olbrecht, Siel, Olopade, Olufunmilayo I., Olson, Sara H., Olsson, Håkan, Osorio, Ana, Papi, Laura, Park, Sue K., Parsons, Michael T., Pathak, Harsha, Pedersen, Inge Sokilde, Peixoto, Ana, Pejovic, Tanja, Perez-Segura, Pedro, Permuth, Jennifer B., Peshkin, Beth, Peterlongo, Paolo, Piskorz, Anna, Prokofyeva, Darya, Radice, Paolo, Rantala, Johanna, Riggan, Marjorie J., Risch, Harvey A., Rodriguez-Antona, Cristina, Ross, Eric, Rossing, Mary Anne, Runnebaum, Ingo, Sandler, Dale P., Santamariña, Marta, Soucy, Penny, Schmutzler, Rita K., Setiawan, V. Wendy, Shan, Kang, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sokolenko, Anna P., Song, Honglin, Southey, Melissa C., Steed, Helen, Stoppa-Lyonnet, Dominique, Sutphen, Rebecca, Swerdlow, Anthony J., Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L., Tischkowitz, Marc, Titus, Linda, Toland, Amanda E., Torres, Diana, Trabert, Britton, Travis, Ruth, Tung, Nadine, Tworoger, Shelley S., Valen, Ellen, van Altena, Anne M., van der Hout, Annemieke H., Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J., Vega, Ana, Edwards, Digna Velez, Vierkant, Robert A., Wang, Frances, Wappenschmidt, Barbara, Webb, Penelope M., Weinberg, Clarice R., Weitzel, Jeffrey N., Wentzensen, Nicolas, White, Emily, Whittemore, Alice S., Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Wu, Anna H., Yan, Li, Yannoukakos, Drakoulis, Zavaglia, Katia M., Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Kleibl, Zdenek, Easton, Douglas, Lawrenson, Kate, DeFazio, Anna, Sellers, Thomas A., Ramus, Susan J., Pearce, Celeste L., Monteiro, Alvaro N., Cunningham, Julie, Goode, Ellen L., Schildkraut, Joellen M., Berchuck, Andrew, Chenevix-Trench, Georgia, Gayther, Simon A., Antoniou, Antonis C., and Pharoah, Paul D. P.

Published
2022
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13. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author

Blein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B, Soucy, Penny, Terry, Mary Beth, Chung, Wendy K, Goldgar, David E, Buys, Saundra S, Breast Cancer Family Registry, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C, Hansen, Thomas VO, Osorio, Ana, Benitez, Javier, Conejero, Raquel Andrés, Segota, Ena, Weitzel, Jeffrey N, Thelander, Margo, Peterlongo, Paolo, Radice, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Bonanni, Bernardo, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Manoukian, Siranoush, Varesco, Liliana, Capone, Gabriele L, Papi, Laura, Ottini, Laura, Yannoukakos, Drakoulis, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brady, Angela, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, EMBRACE, Douglas, Fiona, Cook, Jackie, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Cole, Trevor, Godwin, Andrew K, Isaacs, Claudine, Claes, Kathleen, De Leeneer, Kim, Meindl, Alfons, Gehrig, Andrea, Wappenschmidt, Barbara, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert, Varon-Mateeva, Raymonda, Schmutzler, Rita K, Preisler-Adams, Sabine, Markov, Nadja Bogdanova, Wang-Gohrke, Shan, de Pauw, Antoine, Lefol, Cédrick, Lasset, Christine, Leroux, Dominique, and Rouleau, Etienne

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, BRCA1 Protein, Breast Neoplasms, Female, Genes, BRCA2, Genes, Mitochondrial, Genetic Predisposition to Disease, Haplotypes, Heterozygote, Humans, Mutation, Phylogeny, Risk, Breast Cancer Family Registry, EMBRACE, GEMO Study Collaborators, HEBON, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

IntroductionIndividuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.MethodsWe genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals.ResultsWe discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk.ConclusionsThis study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.

Published
2015

14. Expanding the mutational spectrum of LZTR1 in schwannomatosis

Author

Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, and Papi, Laura

Subjects
Rare Diseases, Clinical Research, Genetics, Pediatric, Cancer, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Amino Acid Sequence, Exome, Family Health, Female, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Male, Middle Aged, Molecular Sequence Data, Mutation, Neurilemmoma, Neurofibromatoses, Pedigree, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Skin Neoplasms, Transcription Factors, Young Adult, Clinical Sciences, Genetics & Heredity
Abstract

Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported. We performed exome sequencing of 13 schwannomatosis patients from 11 families without SMARCB1 deleterious variants. We identified four individuals with heterozygous loss-of-function variants in LZTR1. Sequencing of the germline of 60 additional patients identified 18 additional heterozygous variants in LZTR1. We identified LZTR1 variants in 43% and 30% of familial (three of the seven families) and sporadic patients, respectively. In addition, we tested LZTR1 protein immunostaining in 22 tumors from nine unrelated patients with and without LZTR1 deleterious variants. Tumors from individuals with LZTR1 variants lost the protein expression in at least a subset of tumor cells, consistent with a tumor suppressor mechanism. In conclusion, our study demonstrates that molecular analysis of LZTR1 may contribute to the molecular characterization of schwannomatosis patients, in addition to NF2 mutational analysis and the detection of chromosome 22 losses in tumor tissue. It will be especially useful in differentiating schwannomatosis from mosaic Neurofibromatosis type 2 (NF2). However, the role of LZTR1 in the pathogenesis of schwannomatosis needs further elucidation.

Published
2015

15. Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Author

Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas VO, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Weitzel, Jeffrey N, Ganschow, Pamela, Peterlongo, Paolo, Bernard, Loris, Viel, Alessandra, Bonanni, Bernardo, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo, Papi, Laura, Ottini, Laura, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Frost, Debra, Perkins, Jo, Platte, Radka, Ellis, Steve, EMBRACE, Godwin, Andrew K, Schmutzler, Rita Katharina, Meindl, Alfons, Engel, Christoph, Sutter, Christian, Sinilnikova, Olga M, GEMO Study Collaborators, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Claes, Kathleen, De Leeneer, Kim, Kirk, Judy, Rodriguez, Gustavo C, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Caldes, Trinidad, Aittomäki, Kristiina, Nevanlinna, Heli, Collée, J Margriet, Rookus, Matti A, Oosterwijk, Jan C, Breast Cancer Family Registry, Tihomirova, Laima, Tung, Nadine, Hamann, Ute, Isaccs, Claudine, Tischkowitz, Marc, Imyanitov, Evgeny N, Caligo, Maria A, Campbell, Ian G, Hogervorst, Frans BL, HEBON, Olah, Edith, Diez, Orland, Blanco, Ignacio, Brunet, Joan, Lazaro, Conxi, Pujana, Miquel Angel, Jakubowska, Anna, Gronwald, Jacek, Lubinski, Jan, and Sukiennicki, Grzegorz

Subjects
EMBRACE, GEMO Study Collaborators, Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study, Australian Ovarian Cancer Study Group, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Risk, Genotype, Heterozygote, Mutation, Polymorphism, Single Nucleotide, Alleles, Genes, Reporter, Quantitative Trait Loci, Adolescent, Adult, Female, Genome-Wide Association Study, Young Adult, Carcinoma, Ovarian Epithelial, Human Genome, Rare Diseases, Genetics, Cancer, Prevention, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.

Published
2015

16. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Peterlongo, Paolo, Chang-Claude, Jenny, Moysich, Kirsten B, Rudolph, Anja, Schmutzler, Rita K, Simard, Jacques, Soucy, Penny, Eeles, Rosalind A, Easton, Douglas F, Hamann, Ute, Wilkening, Stefan, Chen, Bowang, Rookus, Matti A, Schmidt, Marjanka K, van der Baan, Frederieke H, Spurdle, Amanda B, Walker, Logan C, Lose, Felicity, Maia, Ana-Teresa, Montagna, Marco, Matricardi, Laura, Lubinski, Jan, Jakubowska, Anna, Garcia, Encarna B Gómez, Olopade, Olufunmilayo I, Nussbaum, Robert L, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Orsulic, Sandra, Lester, Jenny, Chung, Wendy K, Miron, Alex, Southey, Melissa C, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Ding, Yuan Chun, Neuhausen, Susan L, Hansen, Thomas VO, Gerdes, Anne-Marie, Ejlertsen, Bent, Jønson, Lars, Osorio, Ana, Martínez-Bouzas, Cristina, Benitez, Javier, Conway, Edye E, Blazer, Kathleen R, Weitzel, Jeffrey N, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Giannini, Giuseppe, Papi, Laura, Martayan, Aline, Tibiletti, Maria Grazia, Radice, Paolo, Vratimos, Athanassios, Fostira, Florentia, Garber, Judy E, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth R, Frost, Debra, Eccles, Diana, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V, Ellis, Steve, Cole, Trevor, behalf of EMBRACE, on, Godwin, Andrew K, Claes, Kathleen, Van Maerken, Tom, Meindl, Alfons, Gehrig, Andrea, and Sutter, Christian

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Cancer, Women's Health, Rare Diseases, Human Genome, Breast Cancer, Genetic Testing, Prevention, Genetics, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Breast Neoplasms, Cohort Studies, Female, Genes, BRCA1, Genes, BRCA2, Humans, Mutation, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Retrospective Studies, Young Adult, EMBRACE, GEMO Study Collaborators, HEBON, KConFab Investigators, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundBRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes.MethodsGenotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach.ResultsThe observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments.ConclusionThere is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers.ImpactGenome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.

Published
2015

17. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Author

Kuchenbaecker, Karoline B, Neuhausen, Susan L, Robson, Mark, Barrowdale, Daniel, McGuffog, Lesley, Mulligan, Anna Marie, Andrulis, Irene L, Spurdle, Amanda B, Schmidt, Marjanka K, Schmutzler, Rita K, Engel, Christoph, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa, Radice, Paolo, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Lee, Andrew, Healey, Sue, Nussbaum, Robert L, Rebbeck, Timothy R, Arun, Banu K, James, Paul, Karlan, Beth Y, Lester, Jenny, Cass, Ilana, Breast Cancer Family Registry, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, v O Hansen, Thomas, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Dennis, Joe, Cunningham, Julie, Hart, Steven, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Tafur, Isaac, Hander, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo, Varesco, Liliana, Papi, Laura, Tibiletti, Maria Grazia, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, EMBRACE Study, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K, Rhiem, Kerstin, Meindl, Alfons, and Ditsch, Nina

Subjects
Breast Cancer Family Registry, EMBRACE Study, GEMO Study Collaborators, HEBON, KConFab Investigators, CIMBA, Humans, Carcinoma, Carcinoma, Ductal, Breast, Carcinoma, Lobular, Breast Neoplasms, Genetic Predisposition to Disease, Receptor, erbB-2, Receptors, Estrogen, Receptors, Progesterone, Neoplasm Staging, Heterozygote, Alleles, Genes, BRCA1, Genes, BRCA2, Adult, Aged, Middle Aged, Female, Neoplasm Grading, Receptor, ErbB-2, Ductal, Breast, Lobular, Receptor, erbB-2, Receptors, Estrogen, Progesterone, Genes, BRCA1, BRCA2, ErbB-2, Prevention, Breast Cancer, Clinical Research, Genetics, Cancer, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

IntroductionMore than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers.MethodsWe used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement.ResultsThe estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive associations in the general population (intraclass correlation (ICC) = 0.61, 95% confidence interval (CI): 0.45 to 0.74), and the same was true when considering ER-negative associations in both groups (ICC = 0.59, 95% CI: 0.42 to 0.72). Similarly, there was strong correlation between the ER-positive associations for BRCA1 and BRCA2 carriers (ICC = 0.67, 95% CI: 0.52 to 0.78), whereas ER-positive associations in any one of the groups were generally inconsistent with ER-negative associations in any of the others. After stratifying by ER status in mutation carriers, additional significant associations were observed. Several previously unreported variants exhibited associations at P

Published
2014

18. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Author

Spurdle, Amanda B, Couch, Fergus J, Parsons, Michael T, McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K, Wang, Qin, Healey, Sue, Schmutzler, Rita, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L, Domchek, Susan M, Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Åke, Andrulis, Irene L, Miron, Alexander, Hansen, Thomas VO, Caldes, Trinidad, Neuhausen, Susan L, Toland, Amanda E, Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K, Osorio, Ana, Factor, Rachel E, Terry, Mary B, Rebbeck, Timothy R, Karlan, Beth Y, Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul DP, Blows, Fiona M, Dunning, Alison M, Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K, Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Slamon, Dennis J, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A, Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J, and Brinton, Louise

Subjects
ABCTB Investigators, EMBRACE Group, GENICA Network, HEBON Group, kConFab Investigators, Humans, Carcinoma, Breast Neoplasms, Receptor, erbB-2, Receptors, Estrogen, Receptors, Progesterone, Neoplasm Staging, Likelihood Functions, Age Factors, Mutation, Genes, BRCA1, Genes, BRCA2, Adult, Aged, Middle Aged, Female, Neoplasm Grading, Triple Negative Breast Neoplasms, Receptor, ErbB-2, Receptor, erbB-2, Receptors, Estrogen, Progesterone, Genes, BRCA1, BRCA2, ErbB-2, Prevention, Breast Cancer, Cancer, Genetics, 4.2 Evaluation of markers and technologies, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

IntroductionThe distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling.MethodsSelection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach.ResultsER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)).ConclusionsThese results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.

Published
2014

19. Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author

Spurdle, Amanda B, Couch, Fergus J, Parsons, Michael T, McGuffog, Lesley, Barrowdale, Daniel, Bolla, Manjeet K, Wang, Qin, Healey, Sue, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Hahnen, Eric, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D Gareth, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L, Domchek, Susan M, Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Jensen, Uffe Birk, Rantala, Johanna, Borg, Åke, Andrulis, Irene L, Miron, Alexander, Hansen, Thomas VO, Caldes, Trinidad, Neuhausen, Susan L, Toland, Amanda E, Nevanlinna, Heli, Montagna, Marco, Garber, Judy, Godwin, Andrew K, Osorio, Ana, Factor, Rachel E, Terry, Mary B, Rebbeck, Timothy R, Karlan, Beth Y, Southey, Melissa, Rashid, Muhammad Usman, Tung, Nadine, Pharoah, Paul DP, Blows, Fiona M, Dunning, Alison M, Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K, Broeks, Annegien, Cornelissen, Sten, Verhoef, Senno, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Slamon, Dennis J, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A, Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J, and Brinton, Louise

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, Prevention, Genetics, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Adult, Age Factors, Aged, Breast Neoplasms, Carcinoma, Female, Genes, BRCA1, Genes, BRCA2, Humans, Likelihood Functions, Middle Aged, Mutation, Neoplasm Grading, Neoplasm Staging, Receptor, ErbB-2, Receptors, Estrogen, Receptors, Progesterone, Triple Negative Breast Neoplasms, ABCTB Investigators, EMBRACE Group, GENICA Network, HEBON Group, kConFab Investigators, Receptor, erbB-2, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)). These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.

Published
2014

20. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Author

Osorio, Ana, Milne, Roger L, Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón Y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, SWE-BRCA, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I, Beattie, Mary S, Domchek, Susan M, Nathanson, Katherine, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, John, Esther M, Whittemore, Alice S, Daly, Mary B, Southey, Melissa, Hopper, John, Terry, Mary B, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas VO, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N, Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, and Engel, Christoph

Subjects
SWE-BRCA, HEBON, KConFab Investigators, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, DNA Glycosylases, BRCA1 Protein, BRCA2 Protein, Risk, DNA Repair, Genotype, Polymorphism, Single Nucleotide, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Polymorphism, Single Nucleotide, and over, Developmental Biology, Genetics
Abstract

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p

Published
2014

21. Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Author

Mulligan, Anna, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, and Pujol, Pascal

Abstract

Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. Results The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. Conclusions The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.

Published
2011

22. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Author

Anderson, Carl A, Boucher, Gabrielle, Lees, Charlie W, Franke, Andre, D'Amato, Mauro, Taylor, Kent D, Lee, James C, Goyette, Philippe, Imielinski, Marcin, Latiano, Anna, Lagacé, Caroline, Scott, Regan, Amininejad, Leila, Bumpstead, Suzannah, Baidoo, Leonard, Baldassano, Robert N, Barclay, Murray, Bayless, Theodore M, Brand, Stephan, Büning, Carsten, Colombel, Jean-Frédéric, Denson, Lee A, De Vos, Martine, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Fehrmann, Rudolf SN, Floyd, James AB, Florin, Timothy, Franchimont, Denis, Franke, Lude, Georges, Michel, Glas, Jürgen, Glazer, Nicole L, Guthery, Stephen L, Haritunians, Talin, Hayward, Nicholas K, Hugot, Jean-Pierre, Jobin, Gilles, Laukens, Debby, Lawrance, Ian, Lémann, Marc, Levine, Arie, Libioulle, Cecile, Louis, Edouard, McGovern, Dermot P, Milla, Monica, Montgomery, Grant W, Morley, Katherine I, Mowat, Craig, Ng, Aylwin, Newman, William, Ophoff, Roel A, Papi, Laura, Palmieri, Orazio, Peyrin-Biroulet, Laurent, Panés, Julián, Phillips, Anne, Prescott, Natalie J, Proctor, Deborah D, Roberts, Rebecca, Russell, Richard, Rutgeerts, Paul, Sanderson, Jeremy, Sans, Miquel, Schumm, Philip, Seibold, Frank, Sharma, Yashoda, Simms, Lisa A, Seielstad, Mark, Steinhart, A Hillary, Targan, Stephan R, van den Berg, Leonard H, Vatn, Morten, Verspaget, Hein, Walters, Thomas, Wijmenga, Cisca, Wilson, David C, Westra, Harm-Jan, Xavier, Ramnik J, Zhao, Zhen Z, Ponsioen, Cyriel Y, Andersen, Vibeke, Torkvist, Leif, Gazouli, Maria, Anagnou, Nicholas P, Karlsen, Tom H, Kupcinskas, Limas, Sventoraityte, Jurgita, Mansfield, John C, Kugathasan, Subra, Silverberg, Mark S, Halfvarson, Jonas, Rotter, Jerome I, Mathew, Christopher G, Griffiths, Anne M, Gearry, Richard, Ahmad, Tariq, Brant, Steven R, and Chamaillard, Mathias

Subjects
Biological Sciences, Genetics, Autoimmune Disease, Human Genome, Crohn's Disease, Digestive Diseases, Nutrition, Inflammatory Bowel Disease, Prevention, Oral and gastrointestinal, Colitis, Ulcerative, Crohn Disease, Genome-Wide Association Study, Humans, Risk, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10(-8)), increasing the number of ulcerative colitis-associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis.

Published
2011

24. Supplementary Tables S1-S3 from LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL

Author

Ko, Aram, primary, Hasanain, Mohammad, primary, Oh, Young Taek, primary, D'Angelo, Fulvio, primary, Sommer, Danika, primary, Frangaj, Brulinda, primary, Tran, Suzanne, primary, Bielle, Franck, primary, Pollo, Bianca, primary, Paterra, Rosina, primary, Mokhtari, Karima, primary, Soni, Rajesh Kumar, primary, Peyre, Matthieu, primary, Eoli, Marica, primary, Papi, Laura, primary, Kalamarides, Michel, primary, Sanson, Marc, primary, Iavarone, Antonio, primary, and Lasorella, Anna, primary

Published
2023
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25. Supplementary Figure S1. from LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL

Author

Ko, Aram, primary, Hasanain, Mohammad, primary, Oh, Young Taek, primary, D'Angelo, Fulvio, primary, Sommer, Danika, primary, Frangaj, Brulinda, primary, Tran, Suzanne, primary, Bielle, Franck, primary, Pollo, Bianca, primary, Paterra, Rosina, primary, Mokhtari, Karima, primary, Soni, Rajesh Kumar, primary, Peyre, Matthieu, primary, Eoli, Marica, primary, Papi, Laura, primary, Kalamarides, Michel, primary, Sanson, Marc, primary, Iavarone, Antonio, primary, and Lasorella, Anna, primary

Published
2023
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26. Data from LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL

Author

Ko, Aram, primary, Hasanain, Mohammad, primary, Oh, Young Taek, primary, D'Angelo, Fulvio, primary, Sommer, Danika, primary, Frangaj, Brulinda, primary, Tran, Suzanne, primary, Bielle, Franck, primary, Pollo, Bianca, primary, Paterra, Rosina, primary, Mokhtari, Karima, primary, Soni, Rajesh Kumar, primary, Peyre, Matthieu, primary, Eoli, Marica, primary, Papi, Laura, primary, Kalamarides, Michel, primary, Sanson, Marc, primary, Iavarone, Antonio, primary, and Lasorella, Anna, primary

Published
2023
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27. Central, Eastern, and Southeastern European Countries' Convergence: A Look at the Past and Considerations for the Future

Author

Papi, Laura, Stavrev, Emil, and Tulin, Volodymyr

Subjects
Permanent income -- Comparative analysis, Convergence (Social sciences) -- Comparative analysis, Economic recovery -- Comparative analysis, Business, general, Business, Economics
Abstract

CESEE countries have achieved substantial progress and their income and living standards have improved significantly since the beginning of transition. Nevertheless, convergence to high-income status is not assured. Strong demographic headwinds ahead and a subdued outlook for capital accumulation reinforce the need for productivity growth to converge to the income levels of advanced European countries. Better governance and institutions hold high promise to deliver the needed productivity growth, by spurring innovation, fostering competition, and retaining and attracting skilled workers. Keywords Convergence * Central and eastern Europe * Total factor productivity * Demographics * Innovation * Institutions JEL Classification E0 * E02 * E1, Introduction After a period of rapid income convergence across Central, Eastern, and Southeastern Europe (CESEE)' from the mid-1990s until the global financial crisis (GFC), convergence has slowed significantly. Now, with [...]

Published
2018
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29. 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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30. 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
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31. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Author

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

Abstract

Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system. Methods: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong). Results: No histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis. Conclusions: We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

Published
2023

32. Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

Author

Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, and Zadeh, Gelareh

Published
2021
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33. Essays on optimal government policy

Author

Papi, Laura

Subjects
330, HD Industries. Land use. Labor, HG Finance
Abstract

The aim of the thesis is to advance our understanding of the behaviour of, and interactions between, policymakers and the public. The government’s actions result from its objectives and the constraints it faces, hence policy decisions are endogenous. Similarly, private operators are considered to be rational and forward-looking. Thus, the strategic interaction between the policy authorities and the public constitutes the core of the thesis. What emerges from the analysis is how the government chooses the optimal policy and how the public forms its expectations. Although the entire thesis deals with optimal policy decisions, Part I studies the government/public interaction in the context of exchange rate management, and focuses on the comparison between the time-consistent and time-inconsistent strategies, while Parts II and III explore the policymakers’ and private sector’s behaviour in an environment with uncertainty and incomplete information. In such a realistic and complex framework. Part II attempts to explain actual and expected inflation in a closed economy, while Part III attempts to do this in an open economy after a change in the exchange rate regime. Part I analyses optimal exchange rate management. In particular, it examines the government’s optimal policy when a country aims at stabilizing the exchange rate, but wants to retain some degree of monetary independence. The attention is focused on the time-consistency issues that arise in this framework and the purpose of Chapter 1 is to build a bridge between the time-consistency literature and optimal exchange rate management studies, which seem to have neglected this important issue. Chapter 1 stems from the observation that countries participating in quasi-fixed exchange rate arrangements want to retain some monetary independence and sometimes have conflicting objectives. Therefore, the questions to be addressed here are: what is the optimal government policy? And how does the optimal time-inconsistent strategy compare with the incentive-compatible one? The analysis is carried out using a deterministic continuous-time model. Part II builds on the well known Barro-Gordon monetary policy model in order to examine how the presence of uncertainty and asymmetric information impinges on the policy formation process. Uncertainty is a crucial element of reality and it is introduced in the form of the government’s imperfect command of inflation. The introduction of information asymmetry renders the study of the strategic interactions between the policymakers and the public more interesting and complex, because the scope for manipulating the less-informed player’s expectations is enhanced. Asymmetric information enters the model as lack of information on the part of the private sector about the government’s preferences. The private sector’s behaviour is not assumed to be gullible and naive, and their learning process reflects this. The government’s optimal policy is also the optimal signalling strategy, since the policymakers take into account the information content of their actions. The analysis is carried out using a continuous-time stochastic model and the techniques used involve the Bellman principle of optimality and the Kalman-Bucy filter. Part III, which comprises Chapters 3 and 4, is concerned with an open economy model in which asymmetric information is present. Chapter 3 analyses the government's optimal policy, with respect to the choice of planned inflation, when a country changes exchange rate regime. The regime switch examined is that from free floating, where purchasing power parity always holds, to a pegged regime. This is a situation in which information asymmetries are particularly relevant, since the public has never before been able to observe the policymakers’ preferences about competitiveness. After the regime shift, the government can affect the real exchange rate, and hence the public can gather information about the government’s preferences from its actions. Such a change in the exchange rate regime is often advocated as a way of implementing a disinflation. However, some have argued that, in the presence of information asymmetries, and hence when the public has to learn about the characteristics of the new environment, the effectiveness of this anti-inflationary device could he impaired. This chapter challenges this view and aims at analysing the optimal policy and the public’s evolution of inflationary expectations in such a scenario, taking fully into account the strategic interactions between the two players. The model used is stochastic and the techniques employed are the same as in Part II. Chapter 4 explores the role of the information structure using the model developed in Chapter 3. Its purpose is to examine whether simple changes in the information structure can alter the solution to the government’s optimization and, if so, to highlight the differences.

Published
1993

34. LZTR1 mutation mediates oncogenesis through stabilization of EGFR and AXL

Author

Ko, Aram, primary, Hasanain, Mohammad, additional, Oh, Young Taek, additional, D'Angelo, Fulvio, additional, Sommer, Danika, additional, Frangaj, Brulinda, additional, Tran, Suzanne, additional, Bielle, Franck, additional, Pollo, Bianca, additional, Paterra, Rosina, additional, Mokhtari, Karima, additional, Soni, Rajesh Kumar., additional, Peyre, Matthieu, additional, Eoli, Marica, additional, Papi, Laura, additional, Kalamarides, Michel, additional, Sanson, Marc, additional, Iavarone, Antonio, additional, and Lasorella, Anna, additional

Published
2022
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35. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

Author

Caltabiano, Rosario, Magro, Gaetano, Polizzi, Agata, Praticò, Andrea Domenico, Ortensi, Andrea, D’Orazi, Valerio, Panunzi, Andrea, Milone, Pietro, Maiolino, Luigi, Nicita, Francesco, Capone, Gabriele Lorenzo, Sestini, Roberta, Paganini, Irene, Muglia, Mariella, Cavallaro, Sebastiano, Lanzafame, Salvatore, Papi, Laura, and Ruggieri, Martino

Published
2017
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36. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author

Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P

Published
2017
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37. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Author

Hamdi, Yosr, Soucy, Penny, Kuchenbaeker, Karoline B., Pastinen, Tomi, Droit, Arnaud, Lemaçon, Audrey, Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Bane, Anita, Barjhoux, Laure, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Blok, Marinus J., Bobolis, Kristie, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caligo, Maria A., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Daly, Mary B., Damiola, Francesca, Davidson, Rosemarie, De la Hoya, Miguel, De Leeneer, Kim, Diez, Orland, Ding, Yuan Chun, Dolcetti, Riccardo, Domchek, Susan M., Dorfling, Cecilia M., Eccles, Diana, Eeles, Ros, Einbeigi, Zakaria, Ejlertsen, Bent, Engel, Christoph, Gareth Evans, D., Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fountzilas, George, Friedman, Eitan, Frost, Debra, Ganschow, Pamela, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven, Hays, John L., Hogervorst, Frans B. L., Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Joseph, Vijai, Just, Walter, Kaczmarek, Katarzyna, Karlan, Beth Y., Kets, Carolien M., Kirk, Judy, Kriege, Mieke, Laitman, Yael, Laurent, Maïté, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loman, Niklas, Loud, Jennifer T., Manoukian, Siranoush, Mariani, Milena, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Miller, Austin, Montagna, Marco, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nussbaum, Robert L., Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Oosterwijk, Jan C., Osorio, Ana, Papi, Laura, Park, Sue Kyung, Pedersen, Inge Sokilde, Peissel, Bernard, Segura, Pedro Perez, Peterlongo, Paolo, Phelan, Catherine M., Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C., Rookus, Matti A., Schmutzler, Rita Katharina, Sevenet, Nicolas, Shah, Payal D., Singer, Christian F., Slavin, Thomas P., Snape, Katie, Sokolowska, Johanna, Sønderstrup, Ida Marie Heeholm, Southey, Melissa, Spurdle, Amanda B., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Tan, Yen, Tea, Muy-Kheng, Teixeira, Manuel R., Teulé, Alex, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tung, Nadine, van den Ouweland, Ans M. W., van der Luijt, Rob B., van Engelen, Klaartje, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wijnen, Juul T., Rebbeck, Timothy, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J., Nord, Silje, Easton, Douglas F., Antoniou, Antonis C., Simard, Jacques, EMBRACE, GEMO Study Collaborators, HEBON, and KConFab Investigators

Published
2017
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38. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Author

Plotkin, Scott R., primary, Messiaen, Ludwine, additional, Legius, Eric, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Blakeley, Jaishri O., additional, Babovic-Vuksanovic, Dusica, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Giovannini, Marco, additional, Gutmann, David H., additional, Hanemann, Clemens Oliver, additional, Kalamarides, Michel, additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, MacCollin, Mia, additional, Papi, Laura, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Smith, Miriam J., additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Huson, Susan M., additional, Wolkenstein, Pierre, additional, Evans, D. Gareth, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Gomes, Alicia, additional, Halliday, Dorothy, additional, Helen Hanson Arvid Heiberg, Chris Hammond, additional, Joly, Pascal, additional, Jordan, Justin T., additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, Mallucci, Conor, additional, Merker, Vanessa L., additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, and Zadeh, Gelareh, additional

Published
2022
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39. Turcot Syndrome

Author

Papi, Laura, Ruggieri, Martino, editor, Pascual-Castroviejo, Ignacio, editor, and Di Rocco, Concezio, editor

Published
2008
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41. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Author

Tricarico, Rossella, Kasela, Mariann, Mareni, Cristina, Thompson, Bryony A., Drouet, Aurélie, Staderini, Lucia, Gorelli, Greta, Crucianelli, Francesca, Ingrosso, Valentina, Kantelinen, Jukka, Papi, Laura, De Angioletti, Maria, Berardi, Margherita, Gaildrat, Pascaline, Soukarieh, Omar, Turchetti, Daniela, Martins, Alexandra, Spurdle, Amanda B., Nyström, Minna, and Genuardi, Maurizio

Published
2017
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42. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Author

Legius, Eric, primary, Messiaen, Ludwine, additional, Wolkenstein, Pierre, additional, Pancza, Patrice, additional, Avery, Robert A., additional, Berman, Yemima, additional, Blakeley, Jaishri, additional, Babovic-Vuksanovic, Dusica, additional, Cunha, Karin Soares, additional, Ferner, Rosalie, additional, Fisher, Michael J., additional, Friedman, Jan M., additional, Gutmann, David H., additional, Kehrer-Sawatzki, Hildegard, additional, Korf, Bruce R., additional, Mautner, Victor-Felix, additional, Peltonen, Sirkku, additional, Rauen, Katherine A., additional, Riccardi, Vincent, additional, Schorry, Elizabeth, additional, Stemmer-Rachamimov, Anat, additional, Stevenson, David A., additional, Tadini, Gianluca, additional, Ullrich, Nicole J., additional, Viskochil, David, additional, Wimmer, Katharina, additional, Yohay, Kaleb, additional, Gomes, Alicia, additional, Jordan, Justin T., additional, Mautner, Victor, additional, Merker, Vanessa L., additional, Smith, Miriam J., additional, Stevenson, David, additional, Anten, Monique, additional, Aylsworth, Arthur, additional, Baralle, Diana, additional, Barbarot, Sebastien, additional, Barker, Fred, additional, Ben-Shachar, Shay, additional, Bergner, Amanda, additional, Bessis, Didier, additional, Blanco, Ignacio, additional, Cassiman, Catherine, additional, Ciavarelli, Patricia, additional, Clementi, Maurizio, additional, Frébourg, Thierry, additional, Giovannini, Marco, additional, Halliday, Dorothy, additional, Hammond, Chris, additional, Hanemann, C.O., additional, Hanson, Helen, additional, Heiberg, Arvid, additional, Joly, Pascal, additional, Kalamarides, Michel, additional, Karajannis, Matthias, additional, Kroshinsky, Daniela, additional, Larralde, Margarita, additional, Lázaro, Conxi, additional, Le, Lu, additional, Link, Michael, additional, Listernick, Robert, additional, MacCollin, Mia, additional, Mallucci, Conor, additional, Moertel, Christopher, additional, Mueller, Amy, additional, Ngeow, Joanne, additional, Oostenbrink, Rianne, additional, Packer, Roger, additional, Papi, Laura, additional, Parry, Allyson, additional, Peltonen, Juha, additional, Pichard, Dominique, additional, Poppe, Bruce, additional, Rezende, Nilton, additional, Rodrigues, Luiz Oswaldo, additional, Rosser, Tena, additional, Ruggieri, Martino, additional, Serra, Eduard, additional, Steinke-Lange, Verena, additional, Stivaros, Stavros Michael, additional, Taylor, Amy, additional, Toelen, Jaan, additional, Tonsgard, James, additional, Trevisson, Eva, additional, Upadhyaya, Meena, additional, Varan, Ali, additional, Wilson, Meredith, additional, Wu, Hao, additional, Zadeh, Gelareh, additional, Huson, Susan M., additional, Evans, D. Gareth, additional, and Plotkin, Scott R., additional

Published
2021
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43. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Author

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

Published
2015
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44. Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors.

Author

Gasperoni, Silvia, primary, Papi, Laura, additional, Castiglione, Francesca, additional, Gensini, Francesca, additional, Sestini, Roberta, additional, Messerini, Luca, additional, Bartoli, Caterina, additional, Nozzoli, Filippo, additional, Dimarino, Michele, additional, Cianchi, Fabio, additional, Taddei, Antonio, additional, Ferrara, Angelo, additional, Calistri, Massimo, additional, Bencini, Lapo, additional, Perna, Federico, additional, Catalano, Martina, additional, Giorgione, Roberta, additional, Winchler, Costanza, additional, Venturi, Giulia, additional, and Mini, Enrico, additional

Published
2021
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49. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Silvestri, Valentina, Leslie, Goska, Barnes, Daniel R, CIMBA Group, Agnarsson, Bjarni A, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Barkardottir, Rosa B, Barroso, Alicia, Barrowdale, Daniel, Benitez, Javier, Bonanni, Bernardo, Borg, Ake, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Capalbo, Carlo, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Colonna, Sarah V, Cortesi, Laura, Couch, Fergus J, De La Hoya, Miguel, Diez, Orland, Ding, Yuan Chun, Domchek, Susan, Easton, Douglas F, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Feliubadalò, Lidia, Foretova, Lenka, Fostira, Florentia, Géczi, Lajos, Gerdes, Anne-Marie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Hahnen, Eric, Hogervorst, Frans BL, Hopper, John L, Hulick, Peter J, Isaacs, Claudine, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Joseph, Vijai, Konstantopoulou, Irene, Kurian, Allison W, Kwong, Ava, Landucci, Elisabetta, Lesueur, Fabienne, Loud, Jennifer T, Machackova, Eva, Mai, Phuong L, Majidzadeh-A, Keivan, Manoukian, Siranoush, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nathanson, Katherine L, Nevanlinna, Heli, Ngeow, Joanne, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Osorio, Ana, Papi, Laura, Park, Sue K, Pedersen, Inge Sokilde, Perez-Segura, Pedro, Petersen, Annabeth H, Pinto, Pedro, Porfirio, Berardino, Pujana, Miquel Angel, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U, Rosenzweig, Barak, Rossing, Maria, Santamariña, Marta, Schmutzler, Rita K, Senter, Leigha, Simard, Jacques, Singer, Christian F, Solano, Angela R, Southey, Melissa C, Steele, Linda, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo H, Terry, Mary Beth, Thomassen, Mads, Toland, Amanda E, Torres-Esquius, Sara, Tung, Nadine, Van Asperen, Christi J, Vega, Ana, Viel, Alessandra, Vierstraete, Jeroen, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yoon, Sook-Yee, Zorn, Kristin K, McGuffog, Lesley, Parsons, Michael T, Hamann, Ute, Greene, Mark H, Kirk, Judy A, Neuhausen, Susan L, Rebbeck, Timothy R, Tischkowitz, Marc, Chenevix-Trench, Georgia, Antoniou, Antonis C, Friedman, Eitan, Ottini, Laura, Leslie, Goska [0000-0001-5756-6222], Barnes, Daniel [0000-0002-3781-7570], Easton, Douglas [0000-0003-2444-3247], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository

Subjects
Adult, Aged, 80 and over, BRCA2 Protein, Male, endocrine system diseases, Adolescent, BRCA1 Protein, Middle Aged, Young Adult, Phenotype, Neoplasms, Humans, skin and connective tissue diseases, Germ-Line Mutation, Aged, Retrospective Studies
Abstract

IMPORTANCE: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. OBJECTIVE: To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected. MAIN OUTCOMES AND MEASURES: BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. All odds ratios (ORs) were adjusted for age, country of origin, and calendar year of the first interview. RESULTS: Among the 6902 men in the study (median [range] age, 51.6 [18-100] years), 1634 cancers were diagnosed in 1376 men (19.9%), the majority (922 of 1,376 [67%]) being BRCA2 PV carriers. Being affected by any cancer was associated with a higher probability of being a BRCA2, rather than a BRCA1, PV carrier (OR, 3.23; 95% CI, 2.81-3.70; P < .001), as well as developing 2 (OR, 7.97; 95% CI, 5.47-11.60; P < .001) and 3 (OR, 19.60; 95% CI, 4.64-82.89; P < .001) primary tumors. A higher frequency of breast (OR, 5.47; 95% CI, 4.06-7.37; P < .001) and prostate (OR, 1.39; 95% CI, 1.09-1.78; P = .008) cancers was associated with a higher probability of being a BRCA2 PV carrier. Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR, 3.00; 95% CI, 1.55-5.81; P = .001) and colorectal cancer with a lower probability (OR, 0.47; 95% CI, 0.29-0.78; P = .003) of being a BRCA2 PV carrier. CONCLUSIONS AND RELEVANCE: Significant differences in the cancer spectrum were observed in male BRCA2, compared with BRCA1, PV carriers. These data may inform future recommendations for surveillance of BRCA1/2-associated cancers and guide future prospective studies for estimating cancer risks in men with BRCA1/2 PVs.

Published
2020
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50. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author

Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni, Bolla, Manjeet K, Dunning, Alison M, Dennis, Joe, Wang, Qin, Ful, Zumuruda Abu, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auer, Paul L, Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byers, Helen, Caldés, Trinidad, Caligo, Maria A, Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Häberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hake, Christopher R, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huebner, Hanna, Hulick, Peter J, Imyanitov, Evgeny N, kConFab Investigators, ABCTB Investigators, Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C, Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T, Lubinski, Jan, Lukomska, Alicja, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Newman, William G, Nielsen, Finn C, Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Risch, Harvey A, Romero, Atocha, Rookus, Matti A, Rübner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Scheuner, Maren T, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schöttker, Ben, Schürmann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E, Shu, Xiao-Ou, Singer, Christian F, Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Stoppa-Lyonnet, Dominique, EMBRACE Study, GEMO Study Collaborators, Swerdlow, Anthony J, Szabo, Csilla I, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans MW, van der Kolk, Lizet E, van Veen, Elke M, vanRensburg, Elizabeth J, Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K, Milne, Roger L, Kraft, Peter, Simard, Jacques, Pharoah, Paul DP, Michailidou, Kyriaki, Antoniou, Antonis C, Schmidt, Marjanka K, Chenevix-Trench, Georgia, Easton, Douglas F, Chatterjee, Nilanjan, García-Closas, Montserrat, Barnes, Daniel [0000-0002-3781-7570], O'Mara, Tracy A [0000-0002-5436-3232], Dunning, Alison M [0000-0001-6651-7166], Dennis, Joe [0000-0003-4591-1214], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Calvello, Mariarosaria [0000-0003-2113-8503], Chanock, Stephen J [0000-0002-2324-3393], Claes, Kathleen BM [0000-0003-0841-7372], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Ekici, Arif B [0000-0001-6099-7066], Fasching, Peter A [0000-0003-4885-8471], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Harkness, Elaine F [0000-0001-6625-7739], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Huebner, Hanna [0000-0001-6889-1493], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Larsson, Susanna C [0000-0003-0118-0341], Laurent-Puig, Pierre [0000-0001-8475-5459], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Lissowska, Jolanta [0000-0003-2695-5799], Matricardi, Laura [0000-0002-0241-1810], McLean, Catriona [0000-0002-0302-5727], Menon, Usha [0000-0003-3708-1732], Miller, Austin [0000-0001-9739-8462], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Newman, William G [0000-0002-6382-4678], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Parsons, Michael T [0000-0003-3242-8477], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Stone, Jennifer [0000-0001-5077-0124], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], van Veen, Elke M [0000-0001-8618-2332], vanRensburg, Elizabeth J [0000-0003-2077-230X], Weitzel, Jeffrey N [0000-0001-6714-092X], Winqvist, Robert [0000-0003-0932-9104], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Zheng, Wei [0000-0003-1226-070X], Milne, Roger L [0000-0001-5764-7268], Kraft, Peter [0000-0002-4472-8103], Simard, Jacques [0000-0001-6906-3390], Pharoah, Paul DP [0000-0001-8494-732X], Michailidou, Kyriaki [0000-0001-7065-1237], Schmidt, Marjanka K [0000-0002-2228-429X], Easton, Douglas F [0000-0003-2444-3247], Chatterjee, Nilanjan [0000-0002-9060-008X], García-Closas, Montserrat [0000-0003-1033-2650], and Apollo - University of Cambridge Repository

Subjects
BRCA1 Protein, Case-Control Studies, Mutation, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Triple Negative Breast Neoplasms, Linkage Disequilibrium, Genome-Wide Association Study
Abstract

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P

Published
2020

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