Citations 6
Breast and Prostate Cancer Risks for MaleBRCA1andBRCA2Pathogenic Variant Carriers Using Polygenic Risk Scores
Barnes, Daniel R. , Silvestri, Valentina , Leslie, Goska , McGuffog, Lesley, Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A. , Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L. , Arason, Aðalgeir , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barrowdale, Daniel , Belotti, Muriel, Berthet, Pascaline, Boonen, Susanne E. , Borg, Åke , Brady, Angela F., Brewer, Carole, Brunet, Joan , Bucalo, Agostino, Caldés, Trinidad , Cassingham, Hayley , Christensen, Lise Lotte , Cini, Giulia , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Cortesi, Laura , Damante, Giuseppe , Darder, Esther , Davidson, Rosemarie, Leeneer, Kim De , Putter, Robin De , Valle, Jesús Del , Ding, Yuan Chun , Donaldson, Alan , Eason, Jacqueline , Eeles, Rosalind A. , Engel, Christoph , Evans, D. Gareth , Feliubadaló, Lídia , Frone, Megan N. , Frost, Debra, Gehrig, Andrea, Giraud, Sophie , Glendon, Gord , Goldgar, David E. , Greene, Mark H. , Gregory, Helen , Groß, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas van Overeem , Hanson, Helen , Horváth, Judit , Investigators, KConFab, Investigators, HEBON, Izatt, Louise , James, Paul A. , Janavičius, Ramūnas , Jensen, Uffe Birk , Johannsson, Oskar T., John, Esther M. , Kramer, Gero , Kroeldrup, Lone , Kruse, Torben A. , Lautrup, Charlotte Kvist , López‐Fernández, Adrià , Mai, Phuong L, Manoukian, Siranoush , Mátrai, Zoltán , Matricardi, Laura , Mebirouk, Noura, Meindl, Alfons , Montagna, Marco , Monteiro, Álvaro N.A. , Morrison, Patrick J. , Muranen, Taru , Nathanson, Katherine L. , Niederacher, Dieter , Oláh, Edith , Olopade, Olufunmilayo I. , Pedersen, Inge Søkilde , Peissel, Bernard , Peterlongo, Paolo , Petersen, Annabeth Høgh , Pinto, Pedro, Porteous, Mary, Pottinger, Caroline , Pujana, Miquel Angel, Ramser, Juliane, Rantala, Johanna, Rogers, Mark T., Rønlund, Karina, Abajo, A.M. SÁnchez De, Shah, Payal D. , Sharif, Saba , Side, Lucy, Stadler, Zsofia, Steele, Linda , Sutter, Christian , Tan, Yen Y. , Teixeira, Manuel R. , Teulé, Àlex , Thull, Darcy L. , Trainer, Alison H., Tripathi, Vishakha , Valentini, Virginia , Viel, Alessandra , Walker, Lisa, Wang‐Gohrke, Shan , Wappenschmidt, Barbara , Whaite, Anna , Offit, Kenneth, Thomassen, Mads , Schmutzler, Rita K., Simard, Jacques , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Pujana, Miguel Ángel , Dennis, Joe , Yang, Xin , Adlard, Julian , Agnarsson, Bjarni A , Andrulis, Irene L , Arason, Adalgeir , Arnold, Norbert , Auber, Bernd , Azzollini, Jacopo , Barkardottir, Rosa B , Barrowdale, Daniel , Benitez, Javier , Boonen, Susanne E , Bozsik, Aniko , Brennan, Paul , Brunet, Joan , Bucalo, Agostino , Caligo, Maria A , Campbell, Ian G , Cassingham, Hayley , Cini, Giulia , Claes, Kathleen B M , Coppa, Anna , Cortesi, Laura , Darder, Esther , de la Hoya, Miguel , de Putter, Robin , Del Valle, Jesús , Domchek, Susan M , Donaldson, Alan , Eason, Jacqueline , Engel, Christoph , Fostira, Florentia , Frone, Megan , Glendon, Gord , Godwin, Andrew K. , Greene, Mark H , Hahnen, Eric , Hanson, Helen , Izatt, Louise , Izquierdo, Angel , James, Paul , John, Esther M , Kroeldrup, Lone , Kruse, Torben A , Lazaro, Conxi , Lesueur, Fabienne , Matrai, Zoltan , Montagna, Marco , Monteiro, Alvaro N , Morrison, Patrick J , Muranen, Taru A , Nathanson, Katherine L , Neuhausen, Susan L. , Nevanlinna, H , Nguyen-Dumont, Tu , Niederacher, Dieter , Palli, Domenico , Parsons, Michael T , Perez-Segura, Pedro , Peterlongo, Paolo , Pinto, Pedro , Pottinger, Caroline , Radice, Paolo , Robson, Mark , Rump, Andreas , Sharif, Saba , Steele, Linda , Stoppa-Lyonnet, Dominique , Teixeira, Manuel R , Thull, Darcy L , Tischkowitz, Marc D. , Toland, Amanda Ewart , Tommasi, Stefania , Toss, Angela , Tripathi, Vishakha , Valentini, Virginia , van Asperen, Christi J , Venturelli, Marta , Viel, Alessandra , Joseph, Vijai , Whaite, Anna , Simard, Jacques , Easton, Doug , Chenevix-Trench, Georgia , Ottini, Laura , Barnes, Daniel R , Leslie, Goska , Pujana, Miquel Angel , Eeles, Rosalind A , Evans, D Gareth , Matricardi, Laura , Olopade, Olufunmilayo I , Silvestri, Valentina , De Leeneer, Kim , Feliubadaló, Lidia , Hansen, Thomas van Overeem , Manoukian, Siranoush , Arnold, Norbert , Auber, Bernd , Balmañà, Judith , Barwell, Julian , Benı́tez, Javier , Bozsik, Anikó , Brady, Angela F., Buys, Saundra S. , Caligo, Maria A. , Campbell, Ian , Collaborators, GEMO Study, Collaborators, EMBRACE, Cook, Jackie A , Hoya, Miguel de la , Dı́ez, Orland , Domchek, Susan M. , Gallagher, David James , Hentschel, Julia , Investigators, KConFab, Investigators, HEBON, Izquierdo, Á. , Lázaro, Conxi , Lesueur, Fabienne , Mai, Phuong L, Maxwell, Kara N. , Meindl, Alfons , Nevanlinna, Heli , Nguyen‐Dumont, Tú , Palli, Domenico , Parsons, Michael T. , Radice, Paolo , Robson, Mark E. , Rump, Andreas , Singer, Christian F. , Stoppa‐Lyonnet, Dominique , Asperen, Christi J. van , Vijai, Joseph , Zanna, Ines , Couch, Fergus J. , Ottini, Laura
JNCI: Journal of the National Cancer Institute | July 26, 2021 | Volume: 114 | Issue: 1 | Pages: 109-122
AbstractBackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Feng, Helian , Gusev, Alexander , Wu, Lang , Abu-Full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L. , Antoniou, Antonis C. , Arason, Aðalgeir , Arndt, Volker , Aronson, Kristan J. , Asseryanis, Ella, Auer, Paul L. , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barrowdale, Daniel , Beckmann, Matthias W. , Bermisheva, Marina , Białkowska, Katarzyna , Bogdanova, Natalia , Bojesen, Stig E. , Bolla, Manjeet K. , Borg, Åke , Brauch, Hiltrud , Brenner, Hermann , Brüning, Thomas , Burwinkel, Barbara , Caldés, Trinidad , Canisius, Sander , Campa, Daniele , Carter, Brian D., Castelao, Jose E. , Chang‐Claude, Jenny , Christiansen, Hans , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Collaborators, GC‐HBOC study, Cox, Angela , Daly, Mary B., Leeneer, Kim De , Dörk, Thilo , Dwek, Miriam , Eccles, Diana M., Ejlertsen, Bent , Engel, Christoph , Fasching, Peter A. , Flyger, Henrik, Friedman, Eitan , Frost, Debra, Gabrielson, Marike , Ganz, Patricia A. , Gapstur, Susan M. , García‐Closas, Montserrat , Gaudet, Mia M. , Glendon, Gord , Goldberg, Mark S. , Goldgar, David E., González‐Neira, Anna , Greene, Mark H. , Guénel, Pascal , Haiman, Christopher A. , Hamann, Ute, Hake, Christopher R., He, Wei , Heyworth, Jane , Hogervorst, Frans B.L., Hooning, Maartje J. , Hoover, Robert N. , Hopper, John L. , Huang, Guanmengqian, Hulick, Peter J. , Humphreys, Keith , Imyanitov, Evgeny N., Investigators, ABCTB, Investigators, HEBON, Investigators, BCFR, Investigators, OCGN, Jakimovska, Milena , Jakubowska, Anna , James, Paul A. , Janavicius, Ramunas, Jankowitz, Rachel C. , John, Esther M. , Johnson, Nichola , Jung, Audrey , Kiiski, Johanna I. , Konstantopoulou, Irene , Kristensen, Vessela N. , Laitman, Yael , Lambrechts, Diether , Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne , Lindor, Noralane M. , Lindström, Sara, Lo, Wing‐Yee, Loud, Jennifer T. , Makalic, Enes , Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush , Margolin, Sara , Matricardi, Laura , Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons , Menon, Usha , Michailidou, Kyriaki , Kapoor, Pooja M., Montagna, Marco , Moreno, Fernando , Muranen, Taru , Nathanson, Katherine L. , Nevelsteen, Ines, Ņikitina-Zaķe, Liene , Offit, Kenneth, Oláh, Edith , Olopade, Olufunmilayo I. , Olsson, Håkan , Osório, Ana , Papp, J., Park‐Simon, Tjoung‐Won , Pedersen, Inge Søkilde , Peixoto, Ana , Peterlongo, Paolo , Peto, Julian , Phillips, Kelly‐Anne , Plaseska‐Karanfilska, Dijana , Poppe, Bruce , Pradhan, Nisha , Prajzendanc, Karolina , Punie, Kevin , Pylkäs, Katri , Rantala, Johanna, Rashid, Muhammad Usman , Rennert, Gad , Romero, Atocha , Saloustros, Emmanouil , Sandler, Dale P. , Santos, Catarina , Sawyer, Elinor J. , Schmutzler, Rita K., Schoemaker, Minouk J. , Scott, Rodney J. , Simard, Jacques , Skytte, Anne‐Bine , Soucy, Penny, Spinelli, John J. , Stone, Jennifer , Tapper, William , Taylor, Jack A. , Teixeira, Manuel R. , Terry, Mary Beth , Teulé, Àlex , Thomassen, Mads , Thöne, Kathrin , Thull, Darcy L. , Tollenaar, Rob A.�E.�M. , Torres, Diana , Vachon, Celine M. , Ouweland, Ans M.W. van den, Vega, Ana , Viel, Alessandra , Vieiro‐Balo, Paula, Wang, Qin , Wappenschmidt, Barbara , Weinberg, Clarice R. , Weitzel, Jeffrey N. , Wendt, Camilla, Winqvist, Robert , Yang, Xiaohong R., Easton, Douglas F. , Chenevix‐Trench, Georgia , Durocher, Francine , Eccles, Diana , Janavičius, Ramūnas , Khaw, Kay‐Tee , Lambrechts, Diether , Lindor, Noralane, Dörk, Thilo , Lambrechts, Diether , Hulick, Peter J , James, Paul , Lesueur, Fabienne , Peterlongo, Paolo , Rennert, Gad , Sandler, Dale P , Teixeira, Manuel R , Eccles, Diana , Menon, Usha , Vega, Ana , Weitzel, Jeffrey N , Claes, Kathleen B M , Azzollini, Jacopo , John, Esther M , Konstantopoulou, Irene , Matricardi, Laura , Olopade, Olufunmilayo I , Arndt, Volker , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Muranen, Taru A , Romero, Atocha , Saloustros, Emmanouil , Torres, Diana , García-Closas, Montserrat , Makalic, Enes , Michailidou, Kyriaki , Bogdanova, Natalia V , Taylor, Jack A , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Engel, Christoph , Montagna, Marco , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Jung, Audrey Y , Gabrielson, Marike , Stone, Jennifer , Pylkäs, Katri , Rashid, Muhammad U , De Leeneer, Kim , Manoukian, Siranoush , Bojesen, Stig E , Schoemaker, Minouk J , Weinberg, Clarice R , Phillips, Kelly-Anne , Terry, Mary Beth , Brauch, Hiltrud , Plaseska-Karanfilska, Dijana , Sawyer, Elinor J , Paşaniuc, Bogdan , Long, Jirong , Anton‐Culver, Hoda , Arun, Banu , Balmañà, Judith , Barnes, Daniel R. , Behrens, Sabine , Benı́tez, Javier , Blanco, Ana , Blomqvist, Carl , Boeckx, Bram , Bonanni, Bernardo , Borg, Åke , Briceño, Ignacio , Broeks, Annegien , Cai, Qiuyin , Caligo, Maria A. , Campbell, Ian , Carter, Jonathan , Chanock, Stephen Jacob , Chung, Wendy K. , Clarke, Christine L. , Collaborators, GEMO Study, Collaborators, EMBRACE, Collaborators, GC‐HBOC study, Couch, Fergus J. , Cross, Simon S. , Cybulski, Cezary , Czene, Kamila , Hoya, Miguel de la , Dennis, Joe , Devilee, Peter , Dı́ez, Orland , Domchek, Susan M. , dos‐Santos‐Silva, Isabel , Dunning, Alison M. , Ellberg, Carolina , Eriksson, Mikael , Fletcher, Olivia , Fostira, Florentia , Fritschi, Lin , Garber, Judy E. , García-Sáenz, José Á. , Giles, Graham G. , Godwin, Andrew K. , Goldgar, David E., Gronwald, Jacek , Hall, Per N , Hollestelle, Antoinette , Investigators, ABCTB, Investigators, HEBON, Investigators, BCFR, Investigators, OCGN, Isaacs, Claudine , Vijai, Joseph , Karlan, Beth Y. , Хуснутдинова, Э. К. , Lázaro, Conxi , Leslie, Goska , Lubiński, Jan , Mannermaa, Arto, Martens, John W.M. , Martı́nez, Marı́a Elena , Meindl, Alfons , Kapoor, Pooja M., Miller, Austin , Moserle, Lidia , Mulligan, Anna Marie , Neuhausen, Susan L. , Nevanlinna, Heli , Nielsen, Finn Cilius , Parsons, Michael T. , Pharoah, Paul D.P. , Presneau, Nadège , Radice, Paolo , Risch, Harvey A. , Robson, Mark E. , Schmidt, Marjanka K. , Schmidt, Daniel F. , Sharma, Priyanka , Shu, Xiao‐Ou , Singer, Christian F. , Southey, Melissa C. , Spurdle, Amanda B. , Swerdlow, Anthony J. , Tischkowitz, Marc D. , Toland, Amanda Ewart , Truong, Thérèse , Tung, Nadine , Vachon, Celine M. , Asperen, Christi J. van , Rensburg, Elizabeth J. van , Yannoukakos, Drakoulis , Ziogas, Argyrios , Milne, Roger L. , Zheng, Wei , Kraft, Peter , Jiang, Xia
Genetic Epidemiology | March 2, 2020 | Volume: 44 | Issue: 5 | Pages: 442-468
AbstractPrevious transcriptome‐wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome‐wide association studies (GWAS), but analyses of breast cancer subtype‐specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta‐analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case‐only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS‐significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast‐cancer gene in three of six regions harboring multiple TWAS‐significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, Michael T. , Tudini, Emma , Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lídia , Aalfs, Cora M. , Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción , Arnold, Norbert, Auber, Bernd , Austin, Rachel , Azzollini, Jacopo , Balmañà, Judith , Bartram, Claus R., Blümcke, Britta, Bonache, Sandra , Bonanni, Bernardo, Borg, Åke , Bortesi, Beatrice, Brunet, Joan , Bruzzone, Carla, Bucksch, Karolin , Cagnoli, Giulia , Caldés, Trinidad, Caliebe, Almuth , Calvello, Mariarosaria , Capone, Gabriele Lorenzo, Caputo, Sandrine M. , Carrasco, Estela , Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia , Clarke, Edward , Cops, Elisa J., Cortesi, Laura , Couch, Fergus J., Darder, Esther , Debatin, Irmgard, Valle, Jesús Del , Delnatte, Capucine, Derive, Nicolas , Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana , Ehrencrona, Hans , Enders, Ute, Evans, D. Gareth , Farra, Chantal, Faust, Ulrike , Felbor, Ute , Feroce, Irène , Fine, Miriam, Galvão, Henrique C.R. , Gambino, Gaetana , Gehrig, Andrea, Gensini, Francesca , Germani, Aldo , Giesecke, J, Gómez, Carolina, Garcia, Encarna B., González, Sara , Grau, Èlia, Grill, Sabine , Groß, Eva, Guillaud‐Bataille, Marine , Gutiérrez‐Enríquez, Sara , Haaf, Thomas, Hackmann, Karl , Hansen, Thomas van Overeem , Harris, Marion, Hauke, Jan , Heinrich, T., Hellebrand, Heide, Herold, Karen, Honisch, Ellen, Horváth, Judit , Houdayer, Claude , Hübbel, Verena, Iglesias, Sílvia, Izquierdo, Á. , James, Paul A. , Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke , Keupp, Katharina, Kiechle, Marion , Kölbl, Alexandra C., Krieger, Sophie , Kruse, Torben A., Kvist, Anders , Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa , Lautrup, Charlotte Kvist , Ledig, Susanne, Leinert, Elena , Lim, Joanna , Loeffler, Markus, López‐Fernández, Adrià , Lucci‐Cordisco, Emanuela , Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica , Matricardi, Laura , Meindl, Alfons , Michelli, Rodrigo D., Moghadasi, Setareh , Moles‐Fernández, Alejandro , Montagna, Marco , Montalban, Gemma , Monteiro, Álvaro N.A. , Montes, Eva, Mori, Luigi , Müller, Clemens R., Mundhenke, Christoph , Naldi, Nadia, Nathanson, Katherine L. , Navarro, Matilde, Nichols, Cassandra , Niederacher, Dieter , Nielsen, Henriette Roed, Ong, Kai‐Ren , Pachter, Nicholas , Palmero, Edenir Inêz , Pedersen, Inge Søkilde , Peissel, Bernard , Pfeifer, Katharina, Pineda, Marta , Pohl‐Rescigno, Esther, Quante, Anne S. , Ramser, Juliane, Reis, Rui Manuel , Révillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela , Rofes, Paula , Rump, Andreas , Salinas, Mónica, Abajo, A.M. SÁnchez De, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Stiller, Mathias , Sullivan, Kelly J., Susman, Rachel , Sutter, Christian , Tavtigian, Sean V. , Teo, Soo‐Hwang , Thomassen, Mads, Tibiletti, Maria Grazia , Tognazzo, Silvia , Tornero, Eva , Törngren, Therese , Torres‐Esquius, Sara , Trainer, Alison, Tucker, Kathy , Asperen, Christi J. van, Mackelenbergh, Marion van , Varesco, Liliana, Vargas‐Parra, Gardenia , Varon, Raymonda, Vega, Ana , Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra , Vreeswijk, Maaike P.G. , Wagner, Sebastian , Waha, Anke, Walker, Logan C., Walters, Rhiannon, Wang‐Gohrke, Shan , Weber, Bernhard , Weichert, Wilko , Wieland, Kerstin, Wöckel, Achim , Woodward, Emma R. , Zachariae, Silke , Zampiga, Valentina , Zeder-Göß, C, Investigators, KConFab, Lázaro, Conxi, Nicolo, Arcangela De , Radice, Paolo , Engel, Christoph , Schmutzler, Rita K., Goldgar, David E. , Manoukian, Siranoush , Gómez, E. , Houdayer, Claude , de la Hoya, Miguel , Diez, Orland , Eccles, Diana , Gutiérrez-Enríquez, Sara , Susman, Rachel , Tavtigian, Sean V , Toland, Amanda Ewart , Toss, Angela , Vega, Ana , Vreeswijk, Maaike P G , Woodward, Emma R , Radice, Paolo , Spurdle, Amanda B , James, Paul , Parsons, Michael T , Teo, Soo H , Monteiro, Alvaro N , Auber, Bernd , Azzollini, Jacopo , Brunet, Joan , Darder, Esther , Ehrencrona, Hans , Evans, D Gareth , Matricardi, Laura , Palmero, Edenir I , Nathanson, Katherine L , Pineda, Marta , Cini, Giulia , Cortesi, Laura , Del Valle, Jesús , Engel, Christoph , Izquierdo, Angel , Montagna, Marco , Rump, Andreas , Viel, Alessandra , Reis, Rui Manuel , Montalban, Gemma , Calvello, Mariarosaria , Feliubadaló, Lidia , Gómez-García, Encarna B , González, Sara , Hansen, Thomas van Overeem , Hauke, Jan , Zampiga, Valentina , De Nicolo, Arcangela , Manoukian, Siranoush , Li, Hongyan , Hahnen, Eric , Agata, Simona , Barbieri, Elena , Blanco, Ana , Bonanni, Bernardo , Bruzzone, Carla, Caligo, Maria A. , Carnevali, Ileana Wanda , Cavalli, Pietro , Concolino, Paola , Hoya, Miguel de la , Dean, Michael , Dı́ez, Orland , Farra, Chantal, Foulkes, William D. , Gerdes, Anne‐Marie , Gismondi, Viviana , Garcia, Encarna B., Guerrieri‐Gonzaga, Aliana , Guillaud-Bataille, Marine , Jeschke, Udo , Lewis, Alexandra L. , Loeffler, Markus, Meindl, Alfons , Moserle, Lidia , Navarro, Matilde, Nevanlinna, Heli , Papi, Laura , Perez-Segura, Pedro , Pohl‐Rescigno, Esther, Poplawski, Nicola Kazia , Porfirio, Berardino , Révillion, Françoise, Rhiem, Kerstin , Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Sullivan, Kelly J., Teulé, Àlex , Tischkowitz, Marc D. , Asperen, Christi J. van , Varesco, Liliana , Velasco, Àngela , Weber, Bernhard H. F., Wiesmüller, Lisa , Witzel, Isabell , Investigators, kConFab, Lázaro, Conxi, Spurdle, Amanda B. , Balmaña, Judith , Austin, Rachel
Human Mutation | May 27, 2019 | Volume: 40 | Issue: 9 | Pages: 1557-1578
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Colombo, Mara , López‐Perolio, Irene, Caleca, Laura , Li, Hongyan , Vecchi, Giovanna De, Tudini, Emma , Foglia, Claudia , Mondini, P, Manoukian, Siranoush , Behar, Raquel, Gómez, E. , Meindl, Alfons, Montagna, Marco , Niederacher, Dieter , Schmidt, Ane Yde , Varesco, Liliana , Wappenschmidt, Barbara , Bolla, Manjeet K. , Michailidou, Kyriaki , Wang, Qin , Aittomäki, Kristiina, Andrulis, Irene L. , Beckmann, Matthias W. , Beeghly-Fadel, Alicia, Benı́tez, Javier , Bojesen, Stig E. , Bonanni, Bernardo, Brauch, Hiltrud , Brenner, Hermann , Burwinkel, Barbara , Chang‐Claude, Jenny , Conroy, Don, Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Fletcher, Olivia , Flyger, Henrik, Gabrielson, Marike , García‐Closas, Montserrat , González‐Neira, Anna , Guénel, Pascal , Haiman, Christopher A., Hamann, Ute , Hartman, Mikael , Hauke, Jan , Hopper, John L. , Jakubowska, Anna , Kosma, Veli‐Matti , Lambrechts, Diether , Marchand, Loid Le, Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Margolin, Sara , Miao, Hui, Peterlongo, Paolo , Peto, Julian , Pylkäs, Katri , Sawyer, Elinor J. , Schmutzler, Rita K., Schneeweiß, Andreas , Schoemaker, Minouk J. , See, Mee‐Hoong , Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Tomlinson, Ian , Truong, Thérèse , Ouweland, Ans M.W. van den, Kolk, Lizet E. van der, Winqvist, Robert , Zheng, Wei , Investigators, kConFab/AOCS, Easton, Douglas F. , Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy, Rensburg, Elizabeth J. van , EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C. , Chenevix‐Trench, Georgia , Goldgar, David E., Hoya, Miguel de la , Radice, Paolo , Bowtell, David D.L. , Lambrechts, Diether , Lambrechts, Diether , Peterlongo, Paolo , Teo, Soo H , van Rensburg, Elizabeth J , Swerdlow, Anthony J , de la Hoya, Miguel , Radice, Paolo , Southey, Melissa C , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , García-Closas, Montserrat , Michailidou, Kyriaki , Benitez, Javier , Montagna, Marco , Chenevix-Trench, Georgia , Zheng, Wei , Eriksson, Mikael , Figueroa, Jonine D , Gabrielson, Marike , Bowtell, David D , Meeks, Huong , Parsons, Michael T. , Meindl, Alfons, Dennis, Joe , Anton‐Culver, Hoda , Arndt, Volker , Boeckx, Bram , Bogdanova, Natalia , Bonanni, Bernardo , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Devilee, Peter , Dörk, Thilo , Giles, Graham G. , Hall, Per N , Hollestelle, Antoinette , Jung, Audrey , Mannermaa, Arto , Miao, Hui, Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Olson, Janet E. , Schmidt, Marjanka K. , Toland, Amanda Ewart , Asperen, Christi J. van , Yannoukakos, Drakoulis , Investigators, kConFab/AOCS, Dunning, Alison M. , Spurdle, Amanda B. , Goldgar, David E., Pylkäs, Katri , Gómez-García, Encarna B , Hauke, Jan , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J
Human Mutation | February 21, 2018 | Volume: 39 | Issue: 5 | Pages: 729-741
PHIP- a novel candidate breast cancer susceptibility locus on 6q14.1
Jiao, Xiang , Collaborators, NBCS, Investigators, kConFab/AOCS, Aravidis, Christos , Marikkannu, Rajeshwari, Rantala, Johanna, Adamović, Tatjana , Maguire, Paula , Kremeyer, Bárbara , Holst, Susanna von, Kontham, Vinaykumar, Thutkawkorapin, Jessada , Margolin, Sara , Du, Quan , Lundin, Johanna , Michailidou, Kyriaki , Bolla, Manjeet K. , Wang, Qin , Andrulis, Irene L. , Antonenkova, Natalia, Beckmann, Matthias W. , Blomqvist, Carl , Blot, William J. , Bojesen, Stig E. , Brand, Judith S. , Brauch, Hiltrud , Brenner, Hermann , Brüning, Thomas , Burwinkel, Barbara , Chang‐Claude, Jenny , Couch, Fergus J. , Deming-Halverson, Sandra, Dörk, Thilo , Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Flyger, Henrik, Gabrielson, Marike , García‐Closas, Montserrat , González‐Neira, Anna , Guénel, Pascal , Guo, Qi , Gündert, Melanie , Haiman, Christopher A., Hallberg, Emily, Hamann, Ute , Harrington, Patricia, Hooning, Maartje J. , Hopper, John L. , Huang, Guanmengqian, Jakubowska, Anna , Jones, Michael E. , Kerin, Michael J. , Kosma, Veli‐Matti , Kristensen, Vessela N. , Lambrechts, Diether , Lubiński, Jan , Mannermaa, Arto, Meindl, Alfons, Mulligan, Anna Marie , Peto, Julian, Pylkäs, Katri , Radice, Paolo , Rhenius, Valerie , Sawyer, Elinor J. , Schmutzler, Rita K., Seynaeve, Caroline, Shah, Mitul , Simard, Jacques , Southey, Melissa C. , Swerdlow, Anthony J. , Truong, Thérèse , Wendt, Camilla, Winqvist, Robert , Easton, Douglas F. , Lindblom, Annika , Durocher, Francine , Bowtell, David D.L. , Lambrechts, Diether , Dörk, Thilo , Lambrechts, Diether , Swerdlow, Anthony J , Radice, Paolo , Southey, Melissa C , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , García-Closas, Montserrat , Michailidou, Kyriaki , Simard, Jacques , Eriksson, Mikael , Figueroa, Jonine D , Gabrielson, Marike , Bowtell, David D , Collaborators, NBCS, Investigators, kConFab/AOCS, Picelli, Simone , Liu, Tao , Luo, Liping , Dennis, Joe , Lush, Michael J. , Ambrosone, Christine B. , Anton‐Culver, Hoda , Arndt, Volker , Boeckx, Bram , Bonanni, Bernardo , Broeks, Annegien , Cai, Qiuyin , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Devilee, Peter , dos‐Santos‐Silva, Isabel , Giles, Graham G. , Hooning, Maartje J. , Marchand, Loı̈c Le , Mannermaa, Arto, Martens, John W.M. , Meindl, Alfons, Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Schmidt, Marjanka K. , Zheng, Wei , Benı́tez, Javier , Dunning, Alison M. , Pharoah, Paul D.P. , Czene, Kamila , Hall, Per N , Pylkäs, Katri , Lubinski, Jan , Bojesen, Stig E , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J
Oncotarget | December 7, 2017 | Volume: 8 | Issue: 61 | Pages: 102769-102782
Fine‐scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Shi, Jiajun , Zhang, Yanfeng , Zheng, Wei , Michailidou, Kyriaki , Ghoussaini, Maya , Bolla, Manjeet K. , Wang, Qin, Beesley, Jonathan, Kar, Siddhartha , Andrulis, Irene L. , Beckmann, Matthias W. , Zhao, Zhiguo , Benı́tez, Javier , Beeghly‐Fadiel, Alicia, Blot, William J. , Bogdanova, Natalia , Bojesen, Stig E. , Brauch, Hiltrud , Brenner, Hermann , Brinton, Louise A. , Brüning, Thomas , Burwinkel, Barbara , Cai, Hui , Canisius, Sander , Chang‐Claude, Jenny , Choi, Ji‐Yeob , Couch, Fergus J. , Darabi, Hatef, Devilee, Peter , Droit, Arnaud , Dörk, Thilo , Fasching, Peter A. , Fletcher, Olivia , Flyger, Henrik, Fostira, Florentia, Gaborieau, Valérie , García‐Closas, Montserrat , Giles, Graham G. , Grip, Mervi, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute, Hartman, Mikael , Miao, Hui , Hopper, John L. , Hsiung, Chia‐Ni , Investigators, kConFab, Jakubowska, Anna , Johnson, Nichola , Torres, Diana , Kabisch, Maria, Kang, Daehee , Khan, Sofia , Knight, Julia A. , Kosma, Veli‐Matti, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Manoukian, Siranoush , Margolin, Sara , Matsuo, Keitaro , McLean, Catriona , Meindl, Alfons, Børresen‐Dale, Anne‐Lise , Orr, Nick , Ouweland, Ans M.W. van den, Peterlongo, Paolo , Putti, Thomas Choudary , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schmutzler, Rita K., Shen, Chen‐Yang , Hou, Ming‐Feng , Shrubsole, Matha J., Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Thienpont, Bernard , Tollenaar, Robert A.E.M., Tomlinson, Ian , Truong, Thérèse , Tseng, Chiu-Chen , Wen, Wanqing , Winqvist, Robert , Wu, Anna H. , Yip, Cheng Har , Zheng, Ying , Floris, Giuseppe , Cheng, Ching‐Yu , Hooning, Maartje J. , Seynaeve, Caroline, Kristensen, Vessela N., Simard, Jacques , Chenevix‐Trench, Georgia , Dunning, Alison M. , Antoniou, Antonis C. , Easton, Douglas F. , Long, Jirong , Durocher, Francine , Thorne, Heather , Shrubsole, Martha J. , Lambrechts, Diether , Wang, Qin, Dennis, Joe , Lush, Michael J. , Milne, Roger L. , Shu, Xiao‐Ou , Anton‐Culver, Hoda , Arndt, Volker , Guo, Xingyi , Beeghly‐Fadiel, Alicia , Broeks, Annegien , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Hollestelle, Antoinette , Investigators, kConFab, Ito, Hidemi , Lophatananon, Artitaya , Mannermaa, Arto , Marchand, Loı̈c Le , Marmé, Frederik , Meindl, Alfons, Muir, Kenneth , Neuhausen, Susan L. , Nevanlinna, Heli , Nord, Silje , Olson, Janet E. , Rudolph, Anja , Toland, Amanda Ewart , Zamora, Pilar M. , Hooning, Maartje J. , Martens, John W.M. , Kristensen, Vessela N. , Hall, Per N , Pharoah, Paul D.P. , Cai, Qiuyin , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Southey, Melissa C , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Kar, Siddhartha , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Kang, Daehee , Droit, Arnaud
International Journal of Cancer | April 18, 2016 | Volume: 139 | Issue: 6 | Pages: 1303-1317
Previous genome‐wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine‐mapping study across 2.06 Mb (chr8:127,561,724–129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93–0.97, conditional p = 5.8 × 10−6), rs7815245 (OR = 0.94, 95% CI = 0.91–0.96, conditional p = 1.1 × 10−6) and rs2033101 (OR = 1.05, 95% CI = 1.02–1.07, conditional p = 1.1 × 10−4) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r2 = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.