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1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, and Montagna, Marco

Subjects
Human Genome, Prevention, Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators
Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

5. An expanded universe of cancer targets

Author

Hahn, William C, Bader, Joel S, Braun, Theodore P, Califano, Andrea, Clemons, Paul A, Druker, Brian J, Ewald, Andrew J, Fu, Haian, Jagu, Subhashini, Kemp, Christopher J, Kim, William, Kuo, Calvin J, McManus, Michael T, B. Mills, Gordon, Mo, Xiulei, Sahni, Nidhi, Schreiber, Stuart L, Talamas, Jessica A, Tamayo, Pablo, Tyner, Jeffrey W, Wagner, Bridget K, Weiss, William A, Gerhard, Daniela S, Dancik, Vlado, Gill, Shubhroz, Hua, Bruce, Sharifnia, Tanaz, Viswanathan, Vasanthi, Zou, Yilong, Dela Cruz, Filemon, Kung, Andrew, Stockwell, Brent, Boehm, Jesse, Dempster, Josh, Manguso, Robert, Vazquez, Francisca, Cooper, Lee AD, Du, Yuhong, Ivanov, Andrey, Lonial, Sagar, Moreno, Carlos S, Niu, Qiankun, Owonikoko, Taofeek, Ramalingam, Suresh, Reyna, Matthew, Zhou, Wei, Grandori, Carla, Shmulevich, Ilya, Swisher, Elizabeth, Cai, Jitong, Chan, Issac S, Dunworth, Matthew, Ge, Yuchen, Georgess, Dan, Grasset, Eloïse M, Henriet, Elodie, Knútsdóttir, Hildur, Lerner, Michael G, Padmanaban, Veena, Perrone, Matthew C, Suhail, Yasir, Tsehay, Yohannes, Warrier, Manisha, Morrow, Quin, Nechiporuk, Tamilla, Long, Nicola, Saultz, Jennifer, Kaempf, Andy, Minnier, Jessica, Tognon, Cristina E, Kurtz, Stephen E, Agarwal, Anupriya, Brown, Jordana, Watanabe-Smith, Kevin, Vu, Tania Q, Jacob, Thomas, Yan, Yunqi, Robinson, Bridget, Lind, Evan F, Kosaka, Yoko, Demir, Emek, Estabrook, Joseph, Grzadkowski, Michael, Nikolova, Olga, Chen, Ken, Deneen, Ben, Liang, Han, Bassik, Michael C, Bhattacharya, Asmita, Brennan, Kevin, Curtis, Christina, Gevaert, Olivier, Ji, Hanlee P, Karlsson, Kasper AJ, Karagyozova, Kremena, Lo, Yuan-Hung, Liu, Katherine, Nakano, Michitaka, Sathe, Anuja, and Smith, Amber R

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Rare Diseases, Cancer Genomics, Cancer, Orphan Drug, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Animals, Clinical Trials as Topic, Disease Models, Animal, Drug Delivery Systems, Genomics, Humans, Neoplasms, Tumor Escape, Tumor Microenvironment, Cancer Target Discovery and Development Network, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

The characterization of cancer genomes has provided insight into somatically altered genes across tumors, transformed our understanding of cancer biology, and enabled tailoring of therapeutic strategies. However, the function of most cancer alleles remains mysterious, and many cancer features transcend their genomes. Consequently, tumor genomic characterization does not influence therapy for most patients. Approaches to understand the function and circuitry of cancer genes provide complementary approaches to elucidate both oncogene and non-oncogene dependencies. Emerging work indicates that the diversity of therapeutic targets engendered by non-oncogene dependencies is much larger than the list of recurrently mutated genes. Here we describe a framework for this expanded list of cancer targets, providing novel opportunities for clinical translation.

Published
2021

8. Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum

Author

Fortuno, Cristina, Feng, Bing-Jian, Carroll, Courtney, Innella, Giovanni, Kohlmann, Wendy, Lázaro, Conxi, Brunet, Joan, Feliubadaló, Lidia, Iglesias, Silvia, Menéndez, Mireia, Teulé, Alex, Ballinger, Mandy L., Thomas, David M., Campbell, Ainsley, Field, Mike, Harris, Marion, Kirk, Judy, Pachter, Nicholas, Poplawski, Nicola, Susman, Rachel, Tucker, Kathy, Wallis, Mathew, Williams, Rachel, Cops, Elisa, Goldgar, David, James, Paul A., Spurdle, Amanda B., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Bodek, Simon, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lippey, Jocelyn, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, OʼConnell, Shona, OʼSullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Savas, Peter, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shaw, Joanne, Shelling, Andrew, Srinivasa, Shweta, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, and Zaheed, Milita

Published
2024
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9. The impact of coding germline variants on contralateral breast cancer risk and survival

Author

Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Morra, Anna, Mavaddat, Nasim, Muranen, Taru A., Ahearn, Thomas U., Allen, Jamie, Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Behrens, Sabine, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Camp, Nicola J., Carvalho, Sara, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Czene, Kamila, Decker, Brennan, Dennis, Joe, Dörk, Thilo, Dorling, Leila, Dunning, Alison M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Geurts-Giele, Willemina R.R., Giles, Graham G., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A., He, Wei, Heikkilä, Päivi, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jakubowska, Anna, Jung, Audrey Y., Keeman, Renske, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mulligan, Anna Marie, Newman, William G., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul D.P., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Spurdle, Amanda B., Tomlinson, Ian, Truong, Thérèse, van Veen, Elke M., Vreeswijk, Maaike P.G., Wang, Qin, Wendt, Camilla, Yang, Xiaohong R., Nevanlinna, Heli, Devilee, Peter, Easton, Douglas F., and Schmidt, Marjanka K.

Published
2023
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12. Rindopepimut with temozolomide for patients with newly diagnosed, EGFRvIII-expressing glioblastoma (ACT IV): a randomised, double-blind, international phase 3 trial

Author

Weller, Michael, Butowski, Nicholas, Tran, David D, Recht, Lawrence D, Lim, Michael, Hirte, Hal, Ashby, Lynn, Mechtler, Laszlo, Goldlust, Samuel A, Iwamoto, Fabio, Drappatz, Jan, O'Rourke, Donald M, Wong, Mark, Hamilton, Mark G, Finocchiaro, Gaetano, Perry, James, Wick, Wolfgang, Green, Jennifer, He, Yi, Turner, Christopher D, Yellin, Michael J, Keler, Tibor, Davis, Thomas A, Stupp, Roger, Sampson, John H, investigators, ACT IV trial, Campian, Jian, Recht, Lawrence, Goldlust, Samuel, Becker, Kevin, Barnett, Gene, Nicholas, Garth, Desjardins, Annick, Benkers, Tara, Wagle, Naveed, Groves, Morris, Kesari, Santosh, Horvath, Zsolt, Merrell, Ryan, Curry, Richard, O'Rourke, James, Schuster, David, Mrugala, Maciej, Jensen, Randy, Trusheim, John, Lesser, Glenn, Belanger, Karl, Sloan, Andrew, Purow, Benjamin, Fink, Karen, Raizer, Jeffrey, Schulder, Michael, Nair, Suresh, Peak, Scott, Brandes, Alba, Mohile, Nimish, Landolfi, Joseph, Olson, Jon, Jennens, Ross, DeSouza, Paul, Robinson, Bridget, Crittenden, Marka, Shih, Kent, Flowers, Alexandra, Ong, Shirley, Connelly, Jennifer, Hadjipanayis, Costas, Giglio, Pierre, Mott, Frank, Mathieu, David, Lessard, Nathalie, Sepulveda, Sanchez Juan, Lövey, József, Wheeler, Helen, Inglis, Po-Ling, Hardie, Claire, Bota, Daniela, Lesniak, Maciej, Portnow, Jana, Frankel, Bruce, Junck, Larry, Thompson, Reid, Berk, Lawrence, McGhie, John, Macdonald, David, Saran, Frank, Soffietti, Riccardo, Blumenthal, Deborah, and de, Sá Barreto Costa Marcos André

Subjects
Brain Disorders, Rare Diseases, Clinical Research, Cancer, Clinical Trials and Supportive Activities, Neurosciences, Brain Cancer, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Aged, Antineoplastic Combined Chemotherapy Protocols, Brain Neoplasms, Cancer Vaccines, Dacarbazine, Disease-Free Survival, Dose-Response Relationship, Drug, Double-Blind Method, Drug Administration Schedule, ErbB Receptors, Female, Follow-Up Studies, Gene Expression Regulation, Neoplastic, Glioblastoma, Humans, Internationality, Kaplan-Meier Estimate, Male, Middle Aged, Patient Selection, Proportional Hazards Models, Survival Analysis, Temozolomide, Time Factors, Treatment Outcome, Vaccines, Subunit, Young Adult, ACT IV trial investigators, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundRindopepimut (also known as CDX-110), a vaccine targeting the EGFR deletion mutation EGFRvIII, consists of an EGFRvIII-specific peptide conjugated to keyhole limpet haemocyanin. In the ACT IV study, we aimed to assess whether or not the addition of rindopepimut to standard chemotherapy is able to improve survival in patients with EGFRvIII-positive glioblastoma.MethodsIn this randomised, double-blind, phase 3 trial, we recruited patients aged 18 years and older with glioblastoma from 165 hospitals in 22 countries. Eligible patients had newly diagnosed glioblastoma confirmed to express EGFRvIII by central analysis, and had undergone maximal surgical resection and completion of standard chemoradiation without progression. Patients were stratified by European Organisation for Research and Treatment of Cancer recursive partitioning analysis class, MGMT promoter methylation, and geographical region, and randomly assigned (1:1) with a prespecified randomisation sequence (block size of four) to receive rindopepimut (500 μg admixed with 150 μg GM-CSF) or control (100 μg keyhole limpet haemocyanin) via monthly intradermal injection until progression or intolerance, concurrent with standard oral temozolomide (150-200 mg/m2 for 5 of 28 days) for 6-12 cycles or longer. Patients, investigators, and the trial funder were masked to treatment allocation. The primary endpoint was overall survival in patients with minimal residual disease (MRD; enhancing tumour

Published
2017

13. An expanded universe of cancer targets

Author

Dancik, Vlado, Gill, Shubhroz, Hua, Bruce, Sharifnia, Tanaz, Viswanathan, Vasanthi, Zou, Yilong, Dela Cruz, Filemon, Kung, Andrew, Stockwell, Brent, Boehm, Jesse, Dempster, Josh, Manguso, Robert, Vazquez, Francisca, Cooper, Lee A.D., Du, Yuhong, Ivanov, Andrey, Lonial, Sagar, Moreno, Carlos S., Niu, Qiankun, Owonikoko, Taofeek, Ramalingam, Suresh, Reyna, Matthew, Zhou, Wei, Grandori, Carla, Shmulevich, Ilya, Swisher, Elizabeth, Cai, Jitong, Chan, Issac S., Dunworth, Matthew, Ge, Yuchen, Georgess, Dan, Grasset, Eloïse M., Henriet, Elodie, Knútsdóttir, Hildur, Lerner, Michael G., Padmanaban, Veena, Perrone, Matthew C., Suhail, Yasir, Tsehay, Yohannes, Warrier, Manisha, Morrow, Quin, Nechiporuk, Tamilla, Long, Nicola, Saultz, Jennifer, Kaempf, Andy, Minnier, Jessica, Tognon, Cristina E., Kurtz, Stephen E., Agarwal, Anupriya, Brown, Jordana, Watanabe-Smith, Kevin, Vu, Tania Q., Jacob, Thomas, Yan, Yunqi, Robinson, Bridget, Lind, Evan F., Kosaka, Yoko, Demir, Emek, Estabrook, Joseph, Grzadkowski, Michael, Nikolova, Olga, Chen, Ken, Deneen, Ben, Liang, Han, Bassik, Michael C., Bhattacharya, Asmita, Brennan, Kevin, Curtis, Christina, Gevaert, Olivier, Ji, Hanlee P., Karlsson, Kasper A.J., Karagyozova, Kremena, Lo, Yuan-Hung, Liu, Katherine, Nakano, Michitaka, Sathe, Anuja, Smith, Amber R., Spees, Kaitlyn, Wong, Wing Hing, Yuki, Kanako, Hangauer, Matt, Kaufman, Dan S., Balmain, Allan, Bollam, Saumya R., Chen, Wei-Ching, Fan, QiWen, Kersten, Kelly, Krummel, Matthew, Li, Yun Rose, Menard, Marie, Nasholm, Nicole, Schmidt, Christin, Serwas, Nina K., Yoda, Hiroyuki, Ashworth, Alan, Bandyopadhyay, Sourav, Bivona, Trevor, Eades, Gabriel, Oberlin, Stefan, Tay, Neil, Wang, Yuhao, Weissman, Jonathan, Hahn, William C., Bader, Joel S., Braun, Theodore P., Califano, Andrea, Clemons, Paul A., Druker, Brian J., Ewald, Andrew J., Fu, Haian, Jagu, Subhashini, Kemp, Christopher J., Kim, William, Kuo, Calvin J., McManus, Michael T., B. Mills, Gordon, Mo, Xiulei, Sahni, Nidhi, Schreiber, Stuart L., Talamas, Jessica A., Tamayo, Pablo, Tyner, Jeffrey W., Wagner, Bridget K., Weiss, William A., and Gerhard, Daniela S.

Published
2021
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14. Effect of Primary Tumor Side on Survival Outcomes in Untreated Patients With Metastatic Colorectal Cancer When Selective Internal Radiation Therapy Is Added to Chemotherapy: Combined Analysis of Two Randomized Controlled Studies

Author

Brown, Michael, Burge, Matthew, Cardaci, Giuseppe, Clarke, Stephen, Eliadis, Paul, Ferguson, Tom, Ganju, Vinod, Gibbs, Peter, van Hazel, Guy, James, Philip, Karapetis, Chris, Liauw, Winston, Marx, Gavin, Matos, Marco, Nott, Louise, Pavlakis, Nick, Powell, Alex, Price, Timothy, Ransom, David, Segelov, Eva, Shannon, Jenny, Singhal, Nimit, Strickland, Andrew, Walpole, Euan, Craninx, Michel, Delaunoit, Thierry, Deleporte, Amélie, Ferrante, Michel, Geboes, Karen, Hendlisz, Alain, Hendrickx, Koen, De Man, Marc, Monsaert, Els, Moons, Veerle, Peeters, Marc, Polus, Marc, Boucher, Eveline, Balosso, Jacques, Chevallier, Patrick, Louafi, Samy, Pracht, Marc, Rebischung, Christine, Smith, Denis, Taieb, Julien, Terrebonne, Eric, Bruch, Harald-Robert, Gehbauer, Gerald, Heinemann, Volker, Helmberger, Thomas, Ko, Yon-Dschun, Kröning, Hendrik, Lammert, Frank, Nusch, Arnd, Pluntke, Stefan, Ridwelski, Karsten, Riera-Knorrenschild, Jorge, Riess, Hanno, Riera, Jorge Ramon, Ricke, Jens, Sauerbruch, Tilmann, Scheidhauer, Klemens, Stötzer, Oliver, Tatsch, Klaus, Vehling-Kaiser, Ursula, Vogl, Thomas, Beny, Alex, Geva, Ravit, Shacham-Shmueli, Einat, Stemmer, Salomon, Tichler, Thomas, Wolf, Ido, Angelelli, Bruna, Martoni, Andrea, Findlay, Michael P.N., Isaacs, Richard, O’Donnell, Anne, Perez, David, Robinson, Bridget A., Rodríguez, Javier, Vera-Garcia, Ruth, Amin, Pradip, Bloomgarden, Daniel, Bui, James, Carlisle, James, Chai, Seungjean, Chen, Yi-Jen, Chuong, Michael, Coveler, Andrew, Facchini, Francis, Frenette, Gary, Frick, Jacob, Garofalo, Michael, George, Benjamin, Gordon, Michael, Gulec, Seza, Hannigan, James, Holtzman, Matthew, Kaubisch, Andreas, Kaiser, Adeel, Kooy, Todd, Limentani, Steven, Margolis, Jeffrey, Martin, Robert, Ozer, Howard, Padia, Siddarth, Rilling, William, Savin, Michael, Schneiderman, Elyse, Seeger, Grant, Sharma, Navesh, Shibata, Stephen, Smith, Randall, Wang, Eric, Whiting, Samuel, Aghmesheh, Morteza, Burge, Mathew, Cooray, Prasad, Feeney, Kynan, Lim, Lionel, Singh, Madhu, Underhill, Craig, Deleporte, Amelie, Durand, Aurelie, Faivre, Sandrine, Ferru, Aurelie, Hammel, Pascal, Bremer, Christoph, De Wit, Maike, Ayala, Hubert, Heching, Norman, Shani, Adi, Granetto, Cristina, Masi, Gianluca, Mosconi, Stefania, Numico, Gianmauro, Trogu, Antonio, Kim, Yeul Hong, Sae-Won, Han, Jackson, Chris, O'Donnell, Anne, Fragoso, Maria, Tan, Iain, Casado, Ana Ruiz, Liang, Jin Tung, Liu, Jin Hwang, Ades, Steven, Auber, Miklos, Boland, Patrick, Bowers, Charles, Crain, Martin, Dowling, Kyran, Iyer, Renuka, Ratner, Lynn, Sanchez, Federico, Stoltzfus, Patricia, Westcott, Mark, Sharma, Navesh K., Findlay, Michael, Robinson, Bridget, Jackson, Christopher, Gebski, Val, Van Buskirk, Mark, and Zhao, Huaqing

Published
2018
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15. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Author

Børresen-Dale, Anne-Lise, Sahlberg, Kristine, Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile, Reinertsen, Kristin, Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Alnæs, Grethe Grenaker, Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Cummings, Margaret, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Kramer, Iris, Hooning, Maartje J., Mavaddat, Nasim, Hauptmann, Michael, Keeman, Renske, Steyerberg, Ewout W., Giardiello, Daniele, Antoniou, Antonis C., Pharoah, Paul D.P., Canisius, Sander, Abu-Ful, Zumuruda, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Bremer, Michael, Brucker, Sara Y., Burwinkel, Barbara, Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Choi, Ji-Yeob, Clarke, Christine L., Collée, J. Margriet, Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Giles, Graham G., Goldgar, David E., González-Neira, Anna, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, Hopper, John L., Hou, Ming-Feng, Howell, Anthony, Ito, Hidemi, Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kang, Daehee, Kets, C. Marleen, Khusnutdinova, Elza, Ko, Yon-Dschun, Kristensen, Vessela N., Kurian, Allison W., Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie, Muranen, Taru A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Park-Simon, Tjoung-Won, Peto, Julian, Petridis, Christos, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Siesling, Sabine, Slager, Susan, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tapper, William J., Tengström, Maria, Teo, Soo Hwang, Terry, Mary Beth, Tollenaar, Rob A.E.M., Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., van Ongeval, Chantal, van Veen, Elke M., Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Easton, Douglas F., Hall, Per, and Schmidt, Marjanka K.

Published
2020
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16. Blood Vitamin C Levels of Patients Receiving Immunotherapy and Relationship to Monocyte Subtype and Epigenetic Modification

Author

Topham, Ben, primary, de Vries, Millie, additional, Nonis, Maria, additional, van Berkel, Rebecca, additional, Pullar, Juliet M., additional, Magon, Nicholas J., additional, Vissers, Margreet C. M., additional, Currie, Margaret J., additional, Robinson, Bridget A., additional, Gibbs, David, additional, Ang, Abel, additional, and Dachs, Gabi U., additional

Published
2024
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20. Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

Author

Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Bodek, Simon, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, deFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Harraka, Philip, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lippey, Jocelyn, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Ragunathan, Abi, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Savas, Peter, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shaw, Joanne, Shelling, Andrew, Srinivasa, Shweta, Simpson, Peter, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, González-Neira, Anna, Grassmann, Felix, Gronwald, Jacek, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hall, Per, Hamann, Ute, Hartman, Mikael, Ho, Peh Joo, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Joanna, Lindblom, Annika, Liu, Jenny, Lophatananon, Artitaya, Mannermaa, Arto, Mavroudis, Dimitrios A., Mensenkamp, Arjen R., Milne, Roger L., Muir, Kenneth R., Newman, William G., Obi, Nadia, Panayiotidis, Mihalis I., Park, Sue K., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmidt, Marjanka K., Seibold, Petra, Shah, Mitul, Southey, Melissa C., Teo, Soo Hwang, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van de Beek, Irma, van der Hout, Annemieke H., Wendt, Camilla C., Dunning, Alison M., Pharoah, Paul D.P., Devilee, Peter, Easton, Douglas F., James, Paul A., and Spurdle, Amanda B.

Published
2024
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24. Rindopepimut with temozolomide for patients with newly diagnosed, EGFRvIII-expressing glioblastoma (ACT IV): a randomised, double-blind, international phase 3 trial

Author

Butowski, Nicholas, Campian, Jian, Recht, Lawrence, Lim, Michael, Ashby, Lynn, Drappatz, Jan, Hirte, Hal, Iwamoto, Fabio, Mechtler, Laszlo, Goldlust, Samuel, Becker, Kevin, Barnett, Gene, Nicholas, Garth, Desjardins, Annick, Benkers, Tara, Wagle, Naveed, Groves, Morris, Kesari, Santosh, Horvath, Zsolt, Merrell, Ryan, Curry, Richard, O'Rourke, James, Schuster, David, Wong, Mark, Mrugala, Maciej, Jensen, Randy, Trusheim, John, Lesser, Glenn, Belanger, Karl, Sloan, Andrew, Purow, Benjamin, Fink, Karen, Raizer, Jeffrey, Schulder, Michael, Nair, Suresh, Peak, Scott, Perry, James, Brandes, Alba, Weller, Michael, Mohile, Nimish, Landolfi, Joseph, Olson, Jon, Finocchiaro, Gaetano, Jennens, Ross, DeSouza, Paul, Robinson, Bridget, Crittenden, Marka, Shih, Kent, Flowers, Alexandra, Ong, Shirley, Connelly, Jennifer, Hadjipanayis, Costas, Giglio, Pierre, Mott, Frank, Mathieu, David, Lessard, Nathalie, Sepulveda, Sanchez Juan, Lövey, József, Wheeler, Helen, Inglis, Po-Ling, Hardie, Claire, Bota, Daniela, Lesniak, Maciej, Portnow, Jana, Frankel, Bruce, Junck, Larry, Thompson, Reid, Berk, Lawrence, McGhie, John, Macdonald, David, Saran, Frank, Soffietti, Riccardo, Blumenthal, Deborah, André de, Sá Barreto Costa Marcos, Nowak, Anna, Singhal, Nimit, Hottinger, Andreas, Schmid, Andrea, Srkalovic, Gordan, Baskin, David, Fadul, Camilo, Nabors, Louis, LaRocca, Renato, Villano, John, Paleologos, Nina, Kavan, Petr, Pitz, Marshall, Thiessen, Brian, Idbaih, Ahmed, Frenel, Jean Sébastien, Domont, Julien, Grauer, Oliver, Hau, Peter, Marosi, Christine, Sroubek, Jan, Hovey, Elizabeth, Sridhar, P.S., Cher, Lawrence, Dunbar, Erin, Coyle, Thomas, Raymond, Jane, Barton, Kevin, Guarino, Michael, Raval, Sumul, Stea, Baldassarre, Dietrich, Jorge, Hopkins, Kirsten, Erridge, Sara, Steinbach, Joachim-Peter, Pineda, Losada Estela, Balana, Quintero Carmen, Sonia del, Barco Berron, Wenczl, Miklós, Molnár, Katalin, Hideghéty, Katalin, Lossos, Alexander, Myra van, Linde, Levy, Ana, Harrup, Rosemary, Patterson, William, Lwin, Zarnie, Sathornsumetee, Sith, Lee, E-Jian, Ho, Jih-Tsun, Emmons, Steven, Duic, J. Paul, Shao, Spencer, Ashamalla, Hani, Weaver, Michael, Lutzky, Jose, Avgeropoulos, Nicholas, Hanna, Wahid, Nadipuram, Mukund, Cecchi, Gary, O'Donnell, Robert, Pannullo, Susan, Carney, Jennifer, Hamilton, Mark, MacNeil, Mary, Beaney, Ronald, Fabbro, Michel, Schnell, Oliver, Fietkau, Rainer, Stockhammer, Guenther, Malinova, Bela, Odrazka, Karel, Sames, Martin, Miguel Gil, Gil, Razis, Evangelia, Lavrenkov, Konstantin, Castro, Guillermo, Ramirez, Francisco, Baldotto, Clarissa, Viola, Fabiana, Malheiros, Suzana, Lickliter, Jason, Gauden, Stanislaw, Dechaphunkul, Arunee, Thaipisuttikul, Iyavut, Thotathil, Ziad, Ma, Hsin-I, Cheng, Wen-Yu, Chang, Chin-Hong, Salas, Fernando, Dietrich, Pierre-Yves, Mamot, Christoph, Nayak, Lakshmi, Nag, Shona, Tran, David D, Recht, Lawrence D, Goldlust, Samuel A, O'Rourke, Donald M, Hamilton, Mark G, Wick, Wolfgang, Green, Jennifer, He, Yi, Turner, Christopher D, Yellin, Michael J, Keler, Tibor, Davis, Thomas A, Stupp, Roger, and Sampson, John H

Published
2017
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25. First-line selective internal radiotherapy plus chemotherapy versus chemotherapy alone in patients with liver metastases from colorectal cancer (FOXFIRE, SIRFLOX, and FOXFIRE-Global): a combined analysis of three multicentre, randomised, phase 3 trials

Author

Adams, Richard, Bateman, Andrew, Blesing, Claire, Brown, Ewan, Chau, Ian, Cummins, Sebastian, Cunningham, David, Falk, Stephen, Hadaki, Maher, Hall, Marcia, Hickish, Tamas, Hornbuckle, Joanne, Lofts, Fiona, Lowndes, Sarah, Mayer, Astrid, Metcalfe, Matthew, Middleton, Gary, Mills, Jamie, Montazeri, Amir, Muirhead, Rebecca, Polychronis, Andreas, Purcell, Colin, Ross, Paul, Sharma, Ricky A, Sherwin, Liz, Smith, David, Soomal, Rubin, Swinson, Daniel, Walther, Axel, Wasan, Harpreet, Weaver, Andrew, Wilson, Charles, Wilson, Greg, Amin, Pradip, Angelelli, Bruna, Balosso, Jacques, Beny, Alex, Bloomgarden, Daniel, Boucher, Evelyn, Brown, Michael, Bruch, Harald-Robert, Bui, James, Burge, Matthew, Cardaci, Giuseppe, Carlisle, James, Chai, Seungjean, Chen, Yi-Jen, Chevallier, Patrick, Chuong, Michael, Clarke, Stephen, Coveler, Andrew, Craninx, Michael, Delanoit, Thierry, Deleporte, Amélie, Eliadis, Paul, Facchini, Francis, Ferguson, Thomas, Ferrante, Michel, Findlay, Michael, Frenette, Gary, Frick, Jacob, Ganju, Vinod, Garofalo, Michael, Geboes, Karen, Gehbauer, Gerald, George, Benjamin, Geva, Ravit, Gibbs, Peter, Gordon, Michael, Gregory, Kate, Gulec, Seza, Hannigan, James, van Hazel, Guy, Heching, Norman, Heinemann, Volker, Helmberger, Thomas, Hendlisz, Alain, Hendrickx, Koen, Holtzman, Matthew, Isaacs, Richard, Jackson, Christopher, James, Philip, Kaiser, Adeel, Karapetis, Chris, Kaubisch, Andreas, Ko, Yon-Dschun, Kröning, Hendrik, Lammert, Frank, Liauw, Winston, Limentani, Steven, Louafi, Samy, de Man, Marc, Margolis, Jeffrey, Martin, Robert, Martoni, Andrea, Marx, Gavin, Matos, Marco, Monsaert, Els, Moons, Veerle, Nott, Louise, Nusch, Arnd, O'Donnell, Anne, Ozer, Howard, Padia, Siddarth, Pavlakis, Nick, Peeters, Marc, Perez, David, Pluntke, Stefan, Polus, Marc, Powell, Alex, Pracht, Marc, Price, Timothy, Ransom, David, Rebischung, Christine, Ricke, Jens, Ridwelski, Karsten, Riera-Knorrenschild, Jorge, Riess, Hanno, Rilling, William, Robinson, Bridget, Rodríguez, Javier, Sanchez, Federico, Sauerbruch, Tilmann, Savin, Michael, Scheidhauer, Klemens, Schneiderman, Elyse, Seeger, Grant, Segelov, Eva, Schmueli, Einat Shaham, Shani, Adi, Shannon, Jenny, Sharma, Navesh, Shibata, Stephen, Singhal, Nimit, Smith, Denis, Smith, Randall, Stemmer, Salomon, Stötzer, Oliver, Strickland, Andrew, Taieb, Julien, Tatsch, Klaus, Terrebonne, Eric, Tichler, Thomas, Vehling-Kaiser, Ursula, Vera-Garcia, Ruth, Vogl, Thomas, Walpole, Euan, Wang, Eric, Whiting, Samuel, Wolf, Ido, Ades, Steven, Aghmesheh, Morteza, Auber, Miklos, Ayala, Hubert, Boland, Patrick, Bouche, Eveline, Bowers, Charles, Bremer, Christoph, Burge, Mathew, Casado, Ana Ruiz, Cooray, Prasad, Crain, Martin, De Wit, Maike, Dowling, Kyran, Durand, Aurelie, Faivre, Sandrine, Feeney, Kynan, Ferguson, Tom, Ferru, Aurelie, Fragoso, Maria, Granetto, Cristina, Hammel, Pascal, Issacs, Richard, Iyer, Renuka, Kim, Yeul Hong, Liang, Jin Tung, Lim, Lionel, Liu, Jin Hwang, Masi, Gianluca, Mosconi, Stefania, Numico, Gianmauro, Ratner, Lynn, Sae-Won, Han, Singh, Madhu, Stoltzfus, Patricia, Tan, Iain, Trogu, Antonio, Underhill, Craig, Westcott, Mark, Wasan, Harpreet S, Sharma, Navesh K, Francis, Anne, Moschandreas, Joanna, Virdee, Pradeep S, Dutton, Peter, Love, Sharon, Gebski, Val, and Gray, Alastair

Published
2017
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32. Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

Author

Lawrence, Ben, Blenkiron, Cherie, Parker, Kate, Tsai, Peter, Fitzgerald, Sandra, Shields, Paula, Robb, Tamsin, Yeong, Mee Ling, Kramer, Nicole, James, Sarah, Black, Mik, Fan, Vicky, Poonawala, Nooriyah, Yap, Patrick, Coats, Esther, Woodhouse, Braden, Ramsaroop, Reena, Yozu, Masato, Robinson, Bridget, Henare, Kimiora, Koea, Jonathan, Johnston, Peter, Carroll, Richard, Connor, Saxon, Morrin, Helen, Elston, Marianne, Jackson, Christopher, Reid, Papaarangi, Windsor, John, MacCormick, Andrew, Babor, Richard, Bartlett, Adam, Damianovich, Dragan, Knowlton, Nicholas, Grimmond, Sean, Findlay, Michael, and Print, Cristin

Published
2018
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38. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Pearson, John F., Hakkaart, Christopher, Marquart, Louise, Dennis, Joe, Wiggins, George A.R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B.M., Collonge-Rame, Marie Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Martens, John W.M., Pearson, John F., Hakkaart, Christopher, Marquart, Louise, Dennis, Joe, Wiggins, George A.R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B.M., Collonge-Rame, Marie Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, and Martens, John W.M.

Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

39. Increased Ascorbate Content of Glioblastoma Is Associated With a Suppressed Hypoxic Response and Improved Patient Survival

Author

Burgess, Eleanor R., primary, Crake, Rebekah L. I., additional, Phillips, Elisabeth, additional, Morrin, Helen R., additional, Royds, Janice A., additional, Slatter, Tania L., additional, Wiggins, George A. R., additional, Vissers, Margreet C. M., additional, Robinson, Bridget A., additional, and Dachs, Gabi U., additional

Published
2022
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49. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Author

Johnson, Nichola, Maguire, Sarah, Morra, Anna, Kapoor, Pooja Middha, Tomczyk, Katarzyna, Jones, Michael E., Schoemaker, Minouk J., Gilham, Clare, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Baynes, Caroline, Freeman, Laura E. Beane, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Dörk, Thilo, Eliassen, A. Heather, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Floris, Giuseppe, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., Hooning, Maartje J., Hopper, John L., Howell, Anthony, Hunter, David J., Jager, Agnes, Jakubowska, Anna, John, Esther M., Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Kosma, Veli-Matti, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mavroudis, Dimitrios, Mayes, Rebecca, Meindl, Alfons, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Nielsen, Sune F., Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olson, Janet E., Olsson, Håkan, Orban, Ester, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Pylkäs, Katri, Rennert, Gad, Rennert, Hedy S., Ruddy, Kathryn J., Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmutzler, Rita K., Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tamimi, Rulla M., Taylor, Jack A., Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Truong, Thérèse, Vachon, Celine M., van Veen, Elke M., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M., Pharoah, Paul D. P., Easton, Douglas F., Howie, A. Forbes, Peto, Julian, dos-Santos-Silva, Isabel, Swerdlow, Anthony J., Chang-Claude, Jenny, Schmidt, Marjanka K., Orr, Nick, Fletcher, Olivia, Børresen-Dale, Anne-Lise, Alnæs, Grethe I. Grenaker, Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Fosså, Alexander, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, Åslaug, Riis, Margit, Geisler, Jürgen, Bowtell, David D. 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[0000-0003-4885-8471], Hart, Steven N. [0000-0001-7714-2734], Jakubowska, Anna [0000-0002-5650-0501], Kurian, Allison W. [0000-0002-6175-9470], Peterlongo, Paolo [0000-0001-6951-6855], Sawyer, Elinor J. [0000-0001-8285-4111], Tomlinson, Ian [0000-0003-3037-1470], Truong, Thérèse [0000-0002-2943-6786], Pharoah, Paul D. P. [0000-0001-8494-732X], Peto, Julian [0000-0002-1685-8912], Apollo - University of Cambridge Repository, Medical Oncology, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Helsinki University Hospital Area, University of Helsinki, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Fasching, Peter A [0000-0003-4885-8471], Hart, Steven N [0000-0001-7714-2734], Kurian, Allison W [0000-0002-6175-9470], Sawyer, Elinor J [0000-0001-8285-4111], and Pharoah, Paul DP [0000-0001-8494-732X]

Subjects
Cancer Research, CYP3A5, Physiology, Genome-wide association study, Breast cancer, 0302 clinical medicine, Epidemiology, Receptors, IMPUTATION, Medicine, Cytochrome P-450 CYP3A, Cancer genetics, Progesterone, 0303 health sciences, article, 1112 Oncology and Carcinogenesis, 1117 Public Health and Health Services, AOCS Group, Single Nucleotide, humanities, 3. Good health, Receptors, Estrogen, Oncology, Hormone receptor, 030220 oncology & carcinogenesis, kConFab Investigators, Pregnanediol, Female, Receptors, Progesterone, Medical Genetics, medicine.medical_specialty, Estrone, Urinary system, 3122 Cancers, ABCTB Investigators, 631/67/2324, Breast Neoplasms, Polymorphism, Single Nucleotide, NBCS Collaborators, 03 medical and health sciences, Cancer epidemiology, SDG 3 - Good Health and Well-being, 631/67/68, Humans, Oncology & Carcinogenesis, Allele, GENOME-WIDE ASSOCIATION, Polymorphism, CYP3A7, Alleles, 030304 developmental biology, Medicinsk genetik, business.industry, 631/67/1347, medicine.disease, Case-Control Studies, Genome-Wide Association Study, Premenopause, Estrogen, business, Hormone
Abstract

Background Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Methods We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Results For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (−49.2%, 95% CI −56.1% to −41.1%, P = 3.1 × 10–18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (−26.7%, 95% CI −39.4% to −11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82–0.91, P = 6.9 × 10–8). Conclusions The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.

Published
2021
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