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51. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Mavaddat, Nasim, primary, Barrowdale, Daniel, primary, Andrulis, Irene L., primary, Domchek, Susan M., primary, Eccles, Diana, primary, Nevanlinna, Heli, primary, Ramus, Susan J., primary, Spurdle, Amanda, primary, Robson, Mark, primary, Sherman, Mark, primary, Mulligan, Anna Marie, primary, Couch, Fergus J., primary, Engel, Christoph, primary, McGuffog, Lesley, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Southey, Melissa C., primary, Terry, Mary Beth, primary, Goldgar, David, primary, O'Malley, Frances, primary, John, Esther M., primary, Janavicius, Ramunas, primary, Tihomirova, Laima, primary, Hansen, Thomas V. O., primary, Nielsen, Finn C., primary, Osorio, Ana, primary, Stavropoulou, Alexandra, primary, Benítez, Javier, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Barile, Monica, primary, Volorio, Sara, primary, Pasini, Barbara, primary, Dolcetti, Riccardo, primary, Putignano, Anna Laura, primary, Ottini, Laura, primary, Radice, Paolo, primary, Hamann, Ute, primary, Rashid, Muhammad U., primary, Hogervorst, Frans B., primary, Kriege, Mieke, primary, van der Luijt, Rob B., primary, Peock, Susan, primary, Frost, Debra, primary, Evans, D. Gareth, primary, Brewer, Carole, primary, Walker, Lisa, primary, Rogers, Mark T., primary, Side, Lucy E., primary, Houghton, Catherine, primary, Weaver, JoEllen, primary, Godwin, Andrew K., primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Meindl, Alfons, primary, Kast, Karin, primary, Arnold, Norbert, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Doroteha, primary, Preisler-Adams, Sabine, primary, Varon-Mateeva, Raymonda, primary, Schönbuchner, Ines, primary, Gevensleben, Heidrun, primary, Stoppa-Lyonnet, Dominique, primary, Belotti, Muriel, primary, Barjhoux, Laure, primary, Isaacs, Claudine, primary, Peshkin, Beth N., primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Cañadas, Carmen, primary, Heikkinen, Tuomas, primary, Heikkilä, Päivi, primary, Aittomäki, Kristiina, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Brunet, Joan, primary, Agnarsson, Bjarni A., primary, Arason, Adalgeir, primary, Barkardottir, Rosa B., primary, Dumont, Martine, primary, Simard, Jacques, primary, Montagna, Marco, primary, Agata, Simona, primary, D'Andrea, Emma, primary, Yan, Max, primary, Fox, Stephen, primary, Rebbeck, Timothy R., primary, Rubinstein, Wendy, primary, Tung, Nadine, primary, Garber, Judy E., primary, Wang, Xianshu, primary, Fredericksen, Zachary, primary, Pankratz, Vernon S., primary, Lindor, Noralane M., primary, Szabo, Csilla, primary, Offit, Kenneth, primary, Sakr, Rita, primary, Gaudet, Mia M., primary, Singer, Christian F., primary, Tea, Muy-Kheng, primary, Rappaport, Christine, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Sokolenko, Anna, primary, Imyanitov, Evgeny, primary, Toland, Amanda Ewart, primary, Senter, Leigha, primary, Sweet, Kevin, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Kruse, Torben, primary, Caligo, Maria, primary, Aretini, Paolo, primary, Rantala, Johanna, primary, von Wachenfeld, Anna, primary, Henriksson, Karin, primary, Steele, Linda, primary, Neuhausen, Susan L., primary, Nussbaum, Robert, primary, Beattie, Mary, primary, Odunsi, Kunle, primary, Sucheston, Lara, primary, Gayther, Simon A., primary, Nathanson, Kate, primary, Gross, Jenny, primary, Walsh, Christine, primary, Karlan, Beth, primary, Chenevix-Trench, Georgia, primary, Easton, Douglas F., primary, and Antoniou, Antonis C., primary

Published
2023
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52. Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

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

Published
2023
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53. Supplementary Figure 1 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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55. Data from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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60. Supplementary Figure Legends 1-2 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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63. Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

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

Published
2023
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65. Supplementary Figure 2 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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66. Supplementary Table 2 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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67. Supplementary Table 1 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Guidugli, Lucia, primary, Pankratz, Vernon S., primary, Singh, Namit, primary, Thompson, James, primary, Erding, Catherine A., primary, Engel, Christoph, primary, Schmutzler, Rita, primary, Domchek, Susan, primary, Nathanson, Katherine, primary, Radice, Paolo, primary, Singer, Christian, primary, Tonin, Patricia N., primary, Lindor, Noralane M., primary, Goldgar, David E., primary, and Couch, Fergus J., primary

Published
2023
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71. Data from Humanized Patient-derived Xenograft Models of Disseminated Ovarian Cancer Recapitulate Key Aspects of the Tumor Immune Environment within the Peritoneal Cavity

Author

Angela Wandinger-Ness, Scott A. Ness, Laurie G. Hudson, Sarah F. Adams, Vernon S. Pankratz, Danielle Burke, Fred Schultz, Kathryn J. Brayer, Irina Lagutina, and Mara P. Steinkamp

Abstract

The importance of the immune microenvironment in ovarian cancer progression, metastasis, and response to therapies has become increasingly clear, especially with the new emphasis on immunotherapies. To leverage the power of patient-derived xenograft (PDX) models within a humanized immune microenvironment, three ovarian cancer PDXs were grown in humanized NBSGW (huNBSGW) mice engrafted with human CD34+ cord blood–derived hematopoietic stem cells. Analysis of cytokine levels in the ascites fluid and identification of infiltrating immune cells in the tumors demonstrated that these humanized PDX (huPDX) established an immune tumor microenvironment similar to what has been reported for patients with ovarian cancer. The lack of human myeloid cell differentiation has been a major setback for humanized mouse models, but our analysis shows that PDX engraftment increases the human myeloid population in the peripheral blood. Analysis of cytokines within the ascites fluid of huPDX revealed high levels of human M-CSF, a key myeloid differentiation factor as well as other elevated cytokines that have previously been identified in ovarian cancer patient ascites fluid including those involved in immune cell differentiation and recruitment. Human tumor-associated macrophages and tumor-infiltrating lymphocytes were detected within the tumors of humanized mice, demonstrating immune cell recruitment to tumors. Comparison of the three huPDX revealed certain differences in cytokine signatures and in the extent of immune cell recruitment. Our studies show that huNBSGW PDX models reconstitute important aspects of the ovarian cancer immune tumor microenvironment, which may recommend these models for preclinical therapeutic trials.Significance:huPDX models are ideal preclinical models for testing novel therapies. They reflect the genetic heterogeneity of the patient population, enhance human myeloid differentiation, and recruit immune cells to the tumor microenvironment.

Published
2023

73. Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench, Beth Karlan, Christine Walsh, Jenny Gross, Kate Nathanson, Simon A. Gayther, Lara Sucheston, Kunle Odunsi, Mary Beattie, Robert Nussbaum, Susan L. Neuhausen, Linda Steele, Karin Henriksson, Anna von Wachenfeld, Johanna Rantala, Paolo Aretini, Maria Caligo, Torben Kruse, Anne-Marie Gerdes, Mads Thomassen, Kevin Sweet, Leigha Senter, Amanda Ewart Toland, Evgeny Imyanitov, Anna Sokolenko, Mark H. Greene, Phuong L. Mai, Christine Rappaport, Muy-Kheng Tea, Christian F. Singer, Mia M. Gaudet, Rita Sakr, Kenneth Offit, Csilla Szabo, Noralane M. Lindor, Vernon S. Pankratz, Zachary Fredericksen, Xianshu Wang, Judy E. Garber, Nadine Tung, Wendy Rubinstein, Timothy R. Rebbeck, Stephen Fox, Max Yan, Emma D'Andrea, Simona Agata, Marco Montagna, Jacques Simard, Martine Dumont, Rosa B. Barkardottir, Adalgeir Arason, Bjarni A. Agnarsson, Joan Brunet, Conxi Lazaro, Ignacio Blanco, Kristiina Aittomäki, Päivi Heikkilä, Tuomas Heikkinen, Carmen Cañadas, Miguel de la Hoya, Trinidad Caldes, Beth N. Peshkin, Claudine Isaacs, Laure Barjhoux, Muriel Belotti, Dominique Stoppa-Lyonnet, Heidrun Gevensleben, Ines Schönbuchner, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Doroteha Gadzicki, Helmut Deissler, Christian Sutter, Dieter Niederacher, Norbert Arnold, Karin Kast, Alfons Meindl, Barbara Wappenschmidt, Rita K. Schmutzler, Andrew K. Godwin, JoEllen Weaver, Catherine Houghton, Lucy E. Side, Mark T. Rogers, Lisa Walker, Carole Brewer, D. Gareth Evans, Debra Frost, Susan Peock, Rob B. van der Luijt, Mieke Kriege, Frans B. Hogervorst, Muhammad U. Rashid, Ute Hamann, Paolo Radice, Laura Ottini, Anna Laura Putignano, Riccardo Dolcetti, Barbara Pasini, Sara Volorio, Monica Barile, Bernard Peissel, Siranoush Manoukian, Javier Benítez, Alexandra Stavropoulou, Ana Osorio, Finn C. Nielsen, Thomas V. O. Hansen, Laima Tihomirova, Ramunas Janavicius, Esther M. John, Frances O'Malley, David Goldgar, Mary Beth Terry, Melissa C. Southey, Olga M. Sinilnikova, Sue Healey, Lesley McGuffog, Christoph Engel, Fergus J. Couch, Anna Marie Mulligan, Mark Sherman, Mark Robson, Amanda Spurdle, Susan J. Ramus, Heli Nevanlinna, Diana Eccles, Susan M. Domchek, Irene L. Andrulis, Daniel Barrowdale, and Nasim Mavaddat

Abstract

PDF file - 127K

Published
2023

74. Data from Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Author

Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench, Beth Karlan, Christine Walsh, Jenny Gross, Kate Nathanson, Simon A. Gayther, Lara Sucheston, Kunle Odunsi, Mary Beattie, Robert Nussbaum, Susan L. Neuhausen, Linda Steele, Karin Henriksson, Anna von Wachenfeld, Johanna Rantala, Paolo Aretini, Maria Caligo, Torben Kruse, Anne-Marie Gerdes, Mads Thomassen, Kevin Sweet, Leigha Senter, Amanda Ewart Toland, Evgeny Imyanitov, Anna Sokolenko, Mark H. Greene, Phuong L. Mai, Christine Rappaport, Muy-Kheng Tea, Christian F. Singer, Mia M. Gaudet, Rita Sakr, Kenneth Offit, Csilla Szabo, Noralane M. Lindor, Vernon S. Pankratz, Zachary Fredericksen, Xianshu Wang, Judy E. Garber, Nadine Tung, Wendy Rubinstein, Timothy R. Rebbeck, Stephen Fox, Max Yan, Emma D'Andrea, Simona Agata, Marco Montagna, Jacques Simard, Martine Dumont, Rosa B. Barkardottir, Adalgeir Arason, Bjarni A. Agnarsson, Joan Brunet, Conxi Lazaro, Ignacio Blanco, Kristiina Aittomäki, Päivi Heikkilä, Tuomas Heikkinen, Carmen Cañadas, Miguel de la Hoya, Trinidad Caldes, Beth N. Peshkin, Claudine Isaacs, Laure Barjhoux, Muriel Belotti, Dominique Stoppa-Lyonnet, Heidrun Gevensleben, Ines Schönbuchner, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Doroteha Gadzicki, Helmut Deissler, Christian Sutter, Dieter Niederacher, Norbert Arnold, Karin Kast, Alfons Meindl, Barbara Wappenschmidt, Rita K. Schmutzler, Andrew K. Godwin, JoEllen Weaver, Catherine Houghton, Lucy E. Side, Mark T. Rogers, Lisa Walker, Carole Brewer, D. Gareth Evans, Debra Frost, Susan Peock, Rob B. van der Luijt, Mieke Kriege, Frans B. Hogervorst, Muhammad U. Rashid, Ute Hamann, Paolo Radice, Laura Ottini, Anna Laura Putignano, Riccardo Dolcetti, Barbara Pasini, Sara Volorio, Monica Barile, Bernard Peissel, Siranoush Manoukian, Javier Benítez, Alexandra Stavropoulou, Ana Osorio, Finn C. Nielsen, Thomas V. O. Hansen, Laima Tihomirova, Ramunas Janavicius, Esther M. John, Frances O'Malley, David Goldgar, Mary Beth Terry, Melissa C. Southey, Olga M. Sinilnikova, Sue Healey, Lesley McGuffog, Christoph Engel, Fergus J. Couch, Anna Marie Mulligan, Mark Sherman, Mark Robson, Amanda Spurdle, Susan J. Ramus, Heli Nevanlinna, Diana Eccles, Susan M. Domchek, Irene L. Andrulis, Daniel Barrowdale, and Nasim Mavaddat

Abstract

Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers.Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 × 10−5), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 10−6). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-positive tumors (grade 3 vs. grade 1; P = 1.2 × 10−13 for BRCA1 and P = 0.001 for BRCA2). ER and progesterone receptor (PR) expression were independently associated with mutation carrier status [ER-positive odds ratio (OR) for BRCA2 = 9.4, 95% CI: 7.0–12.6 and PR-positive OR = 1.7, 95% CI: 1.3–2.3, under joint analysis]. Lobular tumors were more likely to be BRCA2-related (OR for BRCA2 = 3.3, 95% CI: 2.4–4.4; P = 4.4 × 10−14), and medullary tumors BRCA1-related (OR for BRCA2 = 0.25, 95% CI: 0.18–0.35; P = 2.3 × 10−15). ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (P = 0.0004 for BRCA1; P = 0.002 for BRCA2). There were no significant differences in ovarian cancer morphology between BRCA1 and BRCA2 carriers (serous: 67%; mucinous: 1%; endometrioid: 12%; clear-cell: 2%).Conclusions/Impact: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Cancer Epidemiol Biomarkers Prev; 21(1); 134–47. ©2011 AACR.

Published
2023

75. Supplementary Figure 1 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Fergus J. Couch, David E. Goldgar, Noralane M. Lindor, Patricia N. Tonin, Christian Singer, Paolo Radice, Katherine Nathanson, Susan Domchek, Rita Schmutzler, Christoph Engel, Catherine A. Erding, James Thompson, Namit Singh, Vernon S. Pankratz, and Lucia Guidugli

Abstract

PDF file - 863K, Western blots of ectopically expressed BRCA2 wildtype and VUS containing proteins

Published
2023

77. Supplementary Table 2 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Fergus J. Couch, David E. Goldgar, Noralane M. Lindor, Patricia N. Tonin, Christian Singer, Paolo Radice, Katherine Nathanson, Susan Domchek, Rita Schmutzler, Christoph Engel, Catherine A. Erding, James Thompson, Namit Singh, Vernon S. Pankratz, and Lucia Guidugli

Abstract

PDF file - 58K, Table showing model-based estimates of conditional probabilities in favor or against pathogenicity for VUS based on HDR activity calculated with equal prior probabilities or AGVGD-based prior probabilities for each variant

Published
2023

78. Supplementary Table 1 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Fergus J. Couch, David E. Goldgar, Noralane M. Lindor, Patricia N. Tonin, Christian Singer, Paolo Radice, Katherine Nathanson, Susan Domchek, Rita Schmutzler, Christoph Engel, Catherine A. Erding, James Thompson, Namit Singh, Vernon S. Pankratz, and Lucia Guidugli

Abstract

PDF file - 66K, Table showing the normalized mean HDR assay fold-change and log transformed values for each VUS

Published
2023

82. Supplementary Figure 2 from A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

Author

Fergus J. Couch, David E. Goldgar, Noralane M. Lindor, Patricia N. Tonin, Christian Singer, Paolo Radice, Katherine Nathanson, Susan Domchek, Rita Schmutzler, Christoph Engel, Catherine A. Erding, James Thompson, Namit Singh, Vernon S. Pankratz, and Lucia Guidugli

Abstract

PDF file - 3.9MB, Location of the non-pathogenic and intermediate variants in the mouse BRCA2-DSS1-ssDNA complex

Published
2023

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

Author

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

Abstract

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

Published
2023

88. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author

Chauhan, Ganesh, Adams, Hieab H.H., Satizabal, Claudia L., Bis, Joshua C., Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W., Montine, Thomas J., Schellenberg, Gerard D., Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S., Griswold, Michael E., Windham, B. Gwen, Gottesman, Rebecca F., Mosley, Thomas H., Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B., Aggarwal, Neelum T., De Jager, Philip L., Evans, Denis A., Psaty, Bruce M., Rotter, Jerome I., Rice, Kenneth, Lopez, Oscar L., Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y., Ikram, Mohammad K., van der Lee, Sven J., Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L., Aparicio, Hugo J., Romero, Jose R., Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M., Hernández, Maria del C. Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J., Starr, John M., Bastin, Mark E., Muñoz Maniega, Susana, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J., Ames, David, Boncoraglio, Giorgio B., Hopewell, Jemma C., Beecham, Ashley H., Blanton, Susan H., Wright, Clinton B., Sacco, Ralph L., Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J., Chong, Elizabeth, Schofield, Peter R., Kwok, John B., van der Grond, Jeroen, Stott, David J., Ford, Ian, Jukema, J. Wouter, Vernooij, Meike W., Hofman, Albert, Uitterlinden, André G., van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J., Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie L.M., Rosand, Jonathan, Woo, Daniel, Cole, John W., Meschia, James F., Slowik, Agnieszka, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Rundek, Tatjana, Rexrode, Kathy, Rothwell, Peter M., Arnett, Donna K., Jern, Christina, Johnson, Julie A., Benavente, Oscar R., Wasssertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Mitchell, Braxton D., Rich, Stephen S., McArdle, Patrick F., Geerlings, Mirjam I., van der Graaf, Yolanda, de Bakker, Paul I.W., Asselbergs, Folkert W., Srikanth, Velandai, Thomson, Russell, McWhirter, Rebekah, Moran, Chris, Callisaya, Michele, Phan, Thanh, Rutten-Jacobs, Loes C.A., Bevan, Steve, Tzourio, Christophe, Mather, Karen A., Sachdev, Perminder S., van Duijn, Cornelia M., Worrall, Bradford B., Dichgans, Martin, Kittner, Steven J., Markus, Hugh S., Ikram, Mohammad A., Fornage, Myriam, Launer, Lenore J., Seshadri, Sudha, Longstreth, W.T., Jr, Debette, Stéphanie, Almgren, Peter, Anderson, Christopher D., Arnett, Donna K., Attia, John, Ay, Hakan, Benavente, Oscar R., Bevan, Steve, Brown, Robert D., Bustamante, Mariana, Cheng, Yu-Ching, Cole, John W., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul IW., Delavaran, Hossein, Dichgans, Martin, Engström, Gunnar, Fornage, Myriam, Grewal, Raji P., Heitsch, Laura, Holliday, Elizabeth, Ibanez, Laure, Ilinca, Andreea, Irvin, Marguerite R., Jackson, Rebecca D., Jern, Christina, Jimenez-Conde, Jordi, Johnson, Julie A., Jood, Katarina, Kissela, Brett M., Kittner, Steven J., Kleindorfer, Dawn O., Labovitz, Daniel, Laurie, Cathy C., Lee, Jin-Moo, Lemmens, Robin, Levi, Christopher, Li, Linxin, Lindgren, Arne G., Maguire, Jane, Markus, Hugh S., McArdle, Patrick F., Melander, Olle, Meschia, James F., Mitchell, Braxton D., Müller-Nurasyid, Martina, Norrving, Bo, Peddareddygari, Leema Reddy, Pera, Joanna, Pulit, Sara L., Rexrode, Kathryn, Ribasés, Marta, Roquer, Jaume, Rost, Natalia S., Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Soriano-Tárraga, Carolina, Stanne, Tara, Stauch, Konstantin, Stine, O C., Sudlow, Cathie LM., Thijs, Vincent N.S., Wasssertheil-Smoller, Sylvia, Weir, David, Williams, Stephen R., Wong, Quenna, Woo, Daniel, Worrall, Bradford B., Xu, Huichun, Seshadri, Sudha, Hyacinth, Hyacinth I, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Hansen, Bjorn, Norrving, Bo, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Sacco, Ralph, Sharma, Pankaj, Chung, Jong-Won, Kim, Gyeong-Moon, Lubitz, Steven, Bourcier, Romain, Howson, Joanna, Granata, Alessandra, Drazyk, Anna, Markus, Hugh, Wardlaw, Joanna, Mitchell, Braxton, Cole, John, Hopewell, Jemma, Walters, Robin, Turnbull, Iain, Worrall, Bradford, Bis, Josh, Reiner, Alex, Dhar, Raj, Heitsch, Laura, Lee, Jin-Moo, Prasad, Kameshwar, Sarnowski, Chloé, Aparicio, Hugo Javier, Yang, Qiong, Chasman, Daniel, Rexrode, Kathryn, Phuah, Chia-Ling, Liu, Guiyou, Elkind, Mitchell, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Vojinovic, Dina, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Grond-Ginsbach, Caspar, Strbian, Daniel, Tomppo, Liisa, Sallinen, Hanne, Pfeiffer, Dorothea, Torres, Nuria, Barboza, Miguel, Laarman, Melanie, Carriero, Roberta, Holliday, Elizabeth, Jimenez-Conde, Jordi, Soriano, Carolina, Gill, Dipender, Debette, Stephanie, Mishra, Aniket, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Holmegaard, Lukas, Yue, Suo, bersano, Anna, Pera, Joanna, Slowik, Agnieszka, Levi, Christopher, Schlicht, Kristina, Lemmens, Robin, Ninomiya, Toshiharu, Oberstein, Saskia Lesnik, Lee, Tsong-Hai, Malik, Rainer, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Melander, Olle, Stenman, Martin, Ilinca, Andreea, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Cramer, Steve, Golland, Polina, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, Rundek, Tatjana, Gwinn, Katrina, Chen, Christopher, Koenig, Jim, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Kamatani, Yoichiro, Kubo, Michiaki, Okada, Yukinori, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Xu, Huichun, Tan, Eng King, Frid, Petrea, Lee, Chaeyoung, Tregouet, David, Leung, Thomas, Choy, Richard, Jern, Christina, Loo, Keat Wei, Rinkel, Gabriel, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Montaner, Joan, Kim, Helen, Owolabi, Mayowa, Sofat, Reecha, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., van der Laan, Sander W., Irvin, Ryan, Sargurupremraj, Murali, Pezzini, Alessandro, Abd-Allah, Foad, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Rutten-Jacobs, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Sudlow, Cathie, Rannikmae, Kristiina, McDonough, Caitrin Wheeler, van Agtmael, Tom, Walters, Matthew, Söderholm, Martin, Lorentzen, Erik, Olsson, Sandra, Stanne, Tara, Olsson, Martina, Akinyemi, Rufus, Cotlatciuc, Ioana, McArdle, Patrick, Dave, Tushar, Kittner, Steven, Attia, John, Faber, James E, Millwood, Iona, Márquez, Elsa Valdés, Mancuso, Michelangelo, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Majersik, Jennifer, DeHavenon, Adam, Alexander, Matthew, Sale, Michele, Southerland, Andrew, Owens, Debra, Psaty, Bruce, Longstreth, W. T., Jr, Wolfe, Stacey Quintero, Langefeld, Carl, Cruchaga, Carlos, Konrad, Jan, Sheth, Kevin, Falcone, Guido, Donahue, Kathleen, Simpkins, Alexis N, Liang Byorn, Tan Wei, Chan, Bernard, Clatworthy, Phil, Florez, Jose, Harshfield, Eric, Hozawa, Atsushi, Hsu, Chung, Hu, Chaur-Jong, Ibanez, Laure, Ihara, Masafumi, Lange, Marcos, Lee, Soo Ji, Lee, I-Hui, Musolino, Patricia, Nakatomi, Hirofumi, Park, Kwang-Yeol, Rich, Stephen S, Riley, Chris, Sung, Joohon, Suzuki, Hideaki, Vo, Katie, Washida, Kazuo, Ibenez, Laura Garcia, Slowik, Agnieszka, Hofman, Albert, Algra, Ale, Reiner, Alex P, Doney, Alexander S F, Gschwendtner, Andreas, Ilinca, Andreea, Giese, Anne-Katrin, Lindgren, Arne, Vicente, Astrid M, Norrving, Bo, Nordestgaard, Børge G, Mitchell, Braxton D, Worrall, Bradford B, Psaty, Bruce M, Carty, Cara L, Sudlow, Cathie, Anderson, Christopher D, Levi, Christopher, Satizabal, Claudia L, Palmer, Colin N A, Gamble, Dale M, Woo, Daniel, Saleheen, Danish, Ringelstein, E Bernd, Valdimarsson, Einar, Holliday, Elizabeth, Davies, Gail, Chauhan, Ganesh, Pasterkamp, Gerard, Boncoraglio, Giorgio, Kuhlenbäumer, Gregor, Thorleifsson, Gudmar, Falcone, Guido J, Pare, Guillame, Schmidt, Helena, Delavaran, Hossein, Markus, Hugh S, Aparicio, Hugo J, Deary, Ian, Cotlarciuc, Ioana, Fernandez-Cadenas, Israel, Meschia, James, Hopewell, Jemma C, Liu, Jingmin, Montaner, Joan, Pera, Joanna, Cole, John, Attia, John R, Rosand, Jonathan, Ferro, Jose M, Bis, Joshua, Furie, Karen, Stefansson, Kari, Berger, Klaus, Kostulas, Konstantinos, Rannikmae, Kristina, Ikram, M Arfan, Benn, Marianne, Dichgans, Martin, Farrall, Martin, Pandolfo, Massimo, Traylor, Matthew, Walters, Matthew, Sale, Michele, Nalls, Mike, Fornage, Myriam, van Zuydam, Natalie R, Sharma, Pankaj, Abrantes, Patricia, de Bakker, Paul IW, Higgins, Peter, Lichtner, Peter, Rothwell, Peter M, Amouyel, Philippe, Yang, Qiong, Malik, Rainer, Schmidt, Reinhold, Clarke, Robert, Lemmens, Robin, van der Laan, Sander W, Pulit, Sara L, Abboud, Sherine, Oliveira, Sofia A, Gretarsdottir, Solveig, Debette, Stephanie, Williams, Stephen R, Bevan, Steve, Kittner, Steven J, Seshadri, Sudha, Mosley, Thomas, Battey, Thomas WK, Tatlisumak, Turgut, Thorsteinsdottir, Unnur, Thijs, Vincent NS, Longstreth, W T, Zhao, Wei, Chen, Wei-Min, Cheng, Yu-Ching, Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barmada, M. Michael, Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Byrd, Goldie S., Cai, Guiqing, Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fallin, M. Daniele, Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Farrer, Lindsay A., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Go, Rodney C.P., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Griffith, Patrick, Growdon, John H., Haines, Jonathan L., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Haroutunian, Vahram, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Hulette, Christine M., Hyman, Bradley T., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Lang-Walker, Rosalyn, Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Logue, Mark W., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Manly, Jennifer J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, Mayeux, Richard, McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Murrell, Jill R., Naj, Adam C., Obisesan, Thomas O., Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Pericak-Vance, Margaret A., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raj, Towfique, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schellenberg, Gerard D., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wingo, Thomas S., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, Yu, Lei, Chauhan, Ganesh, Chu, Audrey Y., Fornage, Myriam, Bis, Joshua C., Havulinna, Aki S., Sargurupremraj, Muralidharan, Smith, Albert Vernon, Adams, Hieab H.H., Choi, Seung Hoan, Trompet, Stella, Garcia, Melissa E., Manichaikul, Ani, Teumer, Alexander, Gustafsson, Stefan, Bartz, Traci M., Bellenguez, Céline, Vidal, Jean Sebastien, Jian, Xueqiu, Kjartansson, Olafur, Wiggins, Kerri L., Satizabal, Claudia L., Xue, Flora, Ripatti, Samuli, Liu, Yongmei, Deelen, Joris, Hoed, Marcel den, Heckbert, Susan R., Rice, Kenneth, Smith, Nicholas L., Wong, Quenna, Aparicio, Hugo J., Buring, Julie E., Ridker, Paul M, Berr, Claudine, Dartigues, Jean-François, Hamsten, Anders, Magnusson, Patrik K., Pedersen, Nancy L., Lannfelt, Lars, Lind, Lars, Lindgren, Cecilia M., Morris, Andrew P., Hofman, Albert, Koudstaal, Peter J., Portegies, Marileen LP., Uitterlinden, André G., de Craen, Anton JM, Ford, Ian, Jukema, J. Wouter, Stott, David J, Allen, Norrina B., Sale, Michele M., Johnson, Andrew D, Bennett, David A., De Jager, Philip L., White, Charles C., Grabe, Hans Jörgen, Paulista Markus, Marcello Ricardo, Lopez, Oscar L, Rotter, Jerome I., Nalls, Michael A., Gottesman, Rebecca F., Griswold, Michael E., Knopman, David S., Windham, B. Gwen, Beiser, Alexa, Vartiainen, Erkki, French, Curtis R., Kurth, Tobias, Psaty, Bruce M., Harris, Tamara B., Rich, Stephen S, deStefano, Anita L., Schmidt, Carsten Oliver, Salomaa, Veikko, Mosley, Thomas H., Ingelsson, Erik, van Duijn, Cornelia M., Tzourio, Christophe, Launer, Lenore J, Ikram, M. Arfan, Chasman, Daniel I., Longstreth, W. T., Jr, Seshadri, Sudha, Debette, Stéphanie, Verhaaren, Benjamin F.J., Debette, Stéphanie, Bis, Joshua C., Smith, Jennifer A., Ikram, M. Kamran, Adams, Hieab H., Beecham, Ashley H., Rajan, Kumar B., Lopez, Lorna M., Barral, Sandra, van Buchem, Mark A., van der Grond, Jeroen, Smith, Albert V., Hegenscheid, Katrin, Aggarwal, Neelum T., de Andrade, Mariza, Atkinson, Elizabeth J., Beekman, Marian, Beiser, Alexa S., Blanton, Susan H., Boerwinkle, Eric, Brickman, Adam M., Bryan, R. Nick, Chauhan, Ganesh, Chen, Christopher P.L.H., Chouraki, Vincent, de Craen, Anton J.M., Crivello, Fabrice, Deary, Ian J., Deelen, Joris, De Jager, Philip L., Dufouil, Carole, Elkind, Mitchell S.V., Evans, Denis A., Freudenberger, Paul, Gottesman, Rebecca F., Guðnason, Vilmundur, Habes, Mohamad, Heckbert, Susan R., Heiss, Gerardo, Hilal, Saima, Hofer, Edith, Hofman, Albert, Ibrahim-Verbaas, Carla A., Knopman, David S., Lewis, Cora E., Liao, Jiemin, Liewald, David C.M., Luciano, Michelle, van der Lugt, Aad, Martinez, Oliver O., Mayeux, Richard, Mazoyer, Bernard, Nalls, Mike, Nauck, Matthias, Niessen, Wiro J., Oostra, Ben A., Psaty, Bruce M., Rice, Kenneth M., Rotter, Jerome I., von Sarnowski, Bettina, Schmidt, Helena, Schreiner, Pamela J., Schuur, Maaike, Sidney, Stephen S., Sigurdsson, Sigurdur, Slagboom, P. Eline, Stott, David J.M., van Swieten, John C., Teumer, Alexander, Töglhofer, Anna Maria, Traylor, Matthew, Trompet, Stella, Turner, Stephen T., Tzourio, Christophe, Uh, Hae-Won, Uitterlinden, André G., Vernooij, Meike W., Wang, Jing J., Wong, Tien Y., Wardlaw, Joanna M., Windham, B. Gwen, Wittfeld, Katharina, Wolf, Christiane, Wright, Clinton B., Yang, Qiong, Zhao, Wei, Zijdenbos, Alex, Jukema, J. Wouter, Sacco, Ralph L., Kardia, Sharon L.R., Amouyel, Philippe, Mosley, Thomas H., Longstreth, W. T., Jr, DeCarli, Charles C., van Duijn, Cornelia M., Schmidt, Reinhold, Launer, Lenore J., Grabe, Hans J., Seshadri, Sudha S., Ikram, M. Arfan, Fornage, Myriam, Bis, Joshua C., Kavousi, Maryam, Franceschini, Nora, Isaacs, Aaron, Abecasis, Gonçalo R, Schminke, Ulf, Post, Wendy, Smith, Albert V., Cupples, L. Adrienne, Markus, Hugh S, Schmidt, Reinhold, Huffman, Jennifer E., Lehtimäki, Terho, Baumert, Jens, Münzel, Thomas, Heckbert, Susan R., Dehghan, Abbas, North, Kari, Oostra, Ben, Bevan, Steve, Stoegerer, Eva-Maria, Hayward, Caroline, Raitakari, Olli, Meisinger, Christa, Schillert, Arne, Sanna, Serena, Völzke, Henry, Cheng, Yu-Ching, Thorsson, Bolli, Fox, Caroline S., Rice, Kenneth, Rivadeneira, Fernando, Nambi, Vijay, Halperin, Eran, Petrovic, Katja E., Peltonen, Leena, Wichmann, H. Erich, Schnabel, Renate B., Dörr, Marcus, Parsa, Afshin, Aspelund, Thor, Demissie, Serkalem, Kathiresan, Sekar, Reilly, Muredach P., Taylor, Kent, Uitterlinden, Andre, Couper, David J., Sitzer, Matthias, Kähönen, Mika, Illig, Thomas, Wild, Philipp S., Orru, Marco, Lüdemann, Jan, Shuldiner, Alan R., Eiriksdottir, Gudny, White, Charles C., Rotter, Jerome I., Hofman, Albert, Seissler, Jochen, Zeller, Tanja, Usala, Gianluca, Ernst, Florian, Launer, Lenore J., DʼAgostino, Ralph B., Sr, OʼLeary, Daniel H., Ballantyne, Christie, Thiery, Joachim, Ziegler, Andreas, Lakatta, Edward G., Chilukoti, Ravi Kumar, Harris, Tamara B., Wolf, Philip A., Psaty, Bruce M., Polak, Joseph F, Li, Xia, Rathmann, Wolfgang, Uda, Manuela, Boerwinkle, Eric, Klopp, Norman, Schmidt, Helena, Wilson, James F, Viikari, Jorma, Koenig, Wolfgang, Blankenberg, Stefan, Newman, Anne B., Witteman, Jacqueline, Heiss, Gerardo, van Duijn, Cornelia, Scuteri, Angelo, Homuth, Georg, Mitchell, Braxton D., Gudnason, Vilmundur, and O’Donnell, Christopher J.

Published
2019
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89. Humanized Patient-derived Xenograft Models of Disseminated Ovarian Cancer Recapitulate Key Aspects of the Tumor Immune Environment within the Peritoneal Cavity

Author

Steinkamp, Mara P., primary, Lagutina, Irina, additional, Brayer, Kathryn J., additional, Schultz, Fred, additional, Burke, Danielle, additional, Pankratz, Vernon S., additional, Adams, Sarah F., additional, Hudson, Laurie G., additional, Ness, Scott A., additional, and Wandinger-Ness, Angela, additional

Published
2023
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91. Second primary cancer risks for female and male breast cancer survivors in England

Author

Allen, I., primary, Rahman, T., additional, Bacon, A., additional, Knott, C., additional, Jose, S., additional, Vernon, S., additional, Hassan, H., additional, Huntley, C., additional, Loong, L., additional, Walburga, Y., additional, Lavelle, K., additional, Morris, E., additional, Hardy, S., additional, Torr, B., additional, Eccles, D., additional, Turnbull, C., additional, Tischkowitz, M., additional, Pharoah, P., additional, and Antoniou, A.C., additional

Published
2022
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93. Mammographic Variation Measures, Breast Density, and Breast Cancer Risk

Author

Aaron D. Norman, Matthew R. Jensen, Kathleen R. Brandt, John J. Heine, Diana L. Miglioretti, Vernon S. Pankratz, John A. Shepherd, Fang F. Wu, Karla Kerlikowske, Carrie B. Hruska, Erin E.E. Fowler, Christopher G. Scott, Stacey J. Winham, and Celine M. Vachon

Subjects
Adult, Oncology, medicine.medical_specialty, Population, Breast Neoplasms, Article, 030218 nuclear medicine & medical imaging, Correlation, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Humans, Mammography, Radiology, Nuclear Medicine and imaging, Volumetric density, Breast, Breast density, education, Breast Density, education.field_of_study, medicine.diagnostic_test, business.industry, Reproducibility of Results, General Medicine, Odds ratio, medicine.disease, Case-Control Studies, 030220 oncology & carcinogenesis, Female, business, Body mass index
Abstract

OBJECTIVE. Our previous work showed that variation measures, which represent breast architecture derived from mammograms, were significantly associated with breast cancer. For replication purposes, we examined the association of three variation measures (variation [V], which is measured in the image domain, and P1 and p1 [a normalized version of P1], which are derived from restricted regions in the Fourier domain) with breast cancer risk in an independent population. We also compared these measures to volumetric density measures (volumetric percent density [VPD] and dense volume [DV]) from a commercial product. MATERIALS AND METHODS. We examined 514 patients with breast cancer and 1377 control patients from a screening practice who were matched for age, date of examination, mammography unit, facility, and state of residence. Spearman rank-order correlation was used to evaluate the monotonic association between measures. Breast cancer associations were estimated using conditional logistic regression, after adjustment for age and body mass index. Odds ratios were calculated per SD increment in mammographic measure. RESULTS. These variation measures were strongly correlated with VPD (correlation, 0.68-0.80) but not with DV (correlation, 0.31-0.48). Similar to previous findings, all variation measures were significantly associated with breast cancer (odds ratio per SD: 1.30 [95% CI, 1.16-1.46] for V, 1.55 [95% CI, 1.35-1.77] for P1, and 1.51 [95% CI, 1.33-1.72] for p1). Associations of volumetric density measures with breast cancer were similar (odds ratio per SD: 1.54 [95% CI, 1.33-1.78] for VPD and 1.34 [95% CI, 1.20-1.50] for DV). When DV was included with each variation measure in the same model, all measures retained significance. CONCLUSION. Variation measures were significantly associated with breast cancer risk (comparable to the volumetric density measures) but were independent of the DV.

Published
2021

95. Humanized NBSGW PDX Models of Disseminated Ovarian Cancer Recapitulate Key Aspects of the Tumor Immune Environment within the Peritoneal Cavity

Author

Mara P. Steinkamp, Irina Lagutina, Kathryn J. Brayer, Fred Schultz, Danielle Burke, Vernon S. Pankratz, Sarah F. Adams, Laurie G. Hudson, Scott A. Ness, and Angela Wandinger-Ness

Abstract

The importance of the immune microenvironment in ovarian cancer progression, metastasis, and response to therapies has become increasingly clear, especially with the new emphasis on immunotherapies. In order to leverage the power of patient-derived xenograft (PDX) models within a humanized immune microenvironment, three ovarian cancer PDX were grown in humanized NBSGW mice engrafted with human CD34+ cord blood-derived hematopoietic stem cells. Analysis of cytokine levels in the ascites fluid and infiltrating immune cells in the tumors demonstrated that these humanized PDX (huPDX) established an immune tumor microenvironment similar to what has been reported for ovarian cancer patients. The lack of human myeloid cell differentiation has been a major setback for humanized mouse models, but our analysis shows that PDX engraftment increases the human myeloid population in the peripheral blood. Analysis of cytokines within the ascites fluid of huPDX revealed high levels of human M-CSF, a key myeloid differentiation factor as well as other elevated cytokines that have previously been identified in ovarian cancer patient ascites fluid including those involved in immune cell differentiation and recruitment. Human tumor-associated macrophages and tumor-infiltrating lymphocytes were detected within the tumors of humanized mice, demonstrating immune cell recruitment to tumors. Comparison of the three huPDX revealed certain differences in cytokine signatures and in the extent of immune cell recruitment. Our studies show that huNBSGW PDX models reconstitute important aspects of the ovarian cancer immune tumor microenvironment making this a superior approach for therapeutic trials.

Published
2022

97. Humanized NBSGW PDX Models of Disseminated Ovarian Cancer Recapitulate Key Aspects of the Tumor Immune Environment within the Peritoneal Cavity

Author

Steinkamp, Mara P., primary, Lagutina, Irina, additional, Brayer, Kathryn J., additional, Schultz, Fred, additional, Burke, Danielle, additional, Pankratz, Vernon S., additional, Adams, Sarah F., additional, Hudson, Laurie G., additional, Ness, Scott A., additional, and Wandinger-Ness, Angela, additional

Published
2022
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99. Abstract 6492: Body mass index characterization of patients undergoing neoadjuvant chemotherapy for breast cancer: Correlation with survival

Author

Sangeetha Prabhakaran, Vernon S. Pankratz, Christopher F. McNicoll, Jacklyn M. Nemunaitis, Nadja Falk, and Jain Zhou

Subjects
Cancer Research, Oncology
Abstract

Background: The significance of body mass index (BMI) on treatment outcomes of neoadjuvant chemotherapy for breast cancer and impact on overall survival is not well understood. We reviewed our single institution data on BMI of patients who underwent curative intent neoadjuvant chemotherapy for breast cancer. Methods: An IRB-approved retrospective review identified demographics (including BMI), disease presentation, response to treatment, and outcomes. ER and PR status were categorized as low positive (1-9%), positive (≥ 10%) and negative. Treatment response was noted as percent residual cellularity(complete 0%, almost complete < 10%, good 10-30%, moderate >30-80% and poor >80%) in the surgical specimen. Cox proportional hazards models were used to assess relationships with overall survival. Results: 372 patients underwent curative-intent from 2005-2020; mean age was 51.0 years (SD=11.8); mean BMI was 28.6 (SD=6.3). Median follow-up was 4.3 years. There are significant differences in BMI among racial groups: American Indian (mean 31, SD 6.35), black (mean 30.1, SD 6.89), white (mean 28.3, SD 6.11) (p=0.001). There are significant differences in BMI between Hispanic and non-Hispanic patients: Hispanic (mean 29.6, SD 6.07), non-Hispanic (mean 27.5, SD 6.44), (p=0.001). Hormone receptor status (ER, PR, HER2 status) was not significantly associated with BMI, nor was treatment response either as complete pathologic response (p=0.52) or percent residual cellularity (p=0.98). BMI was not significantly associated in tumor shrinkage noted by changes in T stage or N stage categorizations from pre- to post-NAC. BMI was significantly associated with overall survival through interactions with ER status (p=0.01), and residual percent cellularity (p=0.02). ER- vs. ER+ risk was higher for those with low (HR, 95% CI=7.87, 2.60-23.8 at BMI=20) and moderate (HR, 95% CI=3.25, 1.68-6.33 at BMI=27.5). A five-point higher BMI was associated with a 1.6-fold higher mortality risk for those with complete percent residual cellularity (95% CI: 1.1-2.4), but this risk differential was not observed for those with good, moderate, or poor residual percent residual cellularity. Conclusions: In our study, BMI was significantly associated with race and Hispanic ethnicity. Although there were no significant association of BMI with treatment response to neoadjuvant chemotherapy, there appears to be a significant relationship between BMI and overall patient survival, through its interactions with other prognostic factors. Future research efforts should focus on exploring reductions in BMI through modifications of diet and exercise in improving survival of breast cancer patients, particularly those with higher risk tumors. Citation Format: Sangeetha Prabhakaran, Vernon S. Pankratz, Christopher F. McNicoll, Jacklyn M. Nemunaitis, Nadja Falk, Jain Zhou. Body mass index characterization of patients undergoing neoadjuvant chemotherapy for breast cancer: Correlation with survival. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 6492.

Published
2023

100. Abstract 1899: Breast density comparison of Hispanic versus Non-Hispanic patients undergoing screening mammograms: Influence of age, parity and breast-feeding

Author

Sangeetha Prabhakaran, Vernon S. Pankratz, Jennifer L. Saline, and Emily J. Reese

Subjects
Cancer Research, Oncology
Abstract

Background: Higher mammographic breast density is associated with a 4 to 6-fold increased risk of breast cancer. Some single institution retrospective studies show higher breast densities in Hispanic patients (Oppong et al. Breast J. 2018). The prevalence of breast density based on Hispanic ethnicity has not been studied in large database studies. Methods: We performed a retrospective review of women > 40 years undergoing screening mammograms from 2016-2022. Patients with prior history of breast cancer were excluded. We reviewed demographic variables such as race, self-reported ethnicity, body mass index (BMI), parity, breastfeeding and menopausal status. Breast density was characterized as predominantly fatty (PF), scattered fibroglandular (SF), heterogeneously dense (HD) and extremely dense (ED). We used Chi-square and Kruskal-Wallace tests to compare breast density across measured variables, and Ordinal Logistic Regression to compare breast density levels between self-declared ethnicity while adjusting for other variables. Results: 15946 patients were studied; 7317 (46%) identified as Hispanic, the rest non-Hispanic (NH). 6131 (83%) of Hispanics identified as white. Mean age on 1st screening mammogram was 57.64 (SD 7.21). Compared to NH, Hispanics had mean earlier age of 1st mammogram (56.8 vs. 58.3 years), higher BMI (30.5 vs. 28.6) and higher parity (2.53 vs. 1.71). There were significant differences in BI-RADS density categories by Hispanic vs. NH (p Conclusions: Hispanics were observed to have a lower age of first screening mammogram, higher BMI, higher parity, and breast-fed children compared to non-Hispanics. On univariate analysis, Hispanics were noted to have lower breast density compared to non-Hispanics, these differences do not persist on multivariate analysis. This suggests that BMI likely plays a predominant role in driving the ethnicity-related differences in breast density noted here. Further research efforts should focus on the influence of BMI and other individual-level factors on mammographic density, with a view towards understanding their potential roles in describing differential ethnicity-specific breast cancer risk. Citation Format: Sangeetha Prabhakaran, Vernon S. Pankratz, Jennifer L. Saline, Emily J. Reese. Breast density comparison of Hispanic versus Non-Hispanic patients undergoing screening mammograms: Influence of age, parity and breast-feeding [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1899.

Published
2023

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